P. Harris

S. Somlo, V. Torres, P. Harris, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Therapeutic mTOR Inhibition in Autosomal Dominant Polycystic Kidney Disease: What Is the Appropriate Serum Level?

E. Letavernier, G. Canaud, P. Harris, 2010, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease.

James Glockner, Eric J Bergstralh, Bernard F King, 2010, Journal of the American Society of Nephrology : JASN.

Kidney volume and functional outcomes in autosomal dominant polycystic kidney disease.

Douglas Landsittel, Kyongtae Ty Bae, Diego R. Martín, 2012, Clinical journal of the American Society of Nephrology : CJASN.

Polycystic Kidney Disease, Autosomal Dominant

V. Torres, P. Harris, 2015 .

The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease.

Gregory R Pond, Klaus Zerres, G. Pond, 2002, Journal of the American Society of Nephrology : JASN.

Molecular pathogenesis of ADPKD: the polycystin complex gets complex.

Albert C M Ong, P. Harris, A. Ong, 2005, Kidney international.

Polycystic kidney disease.

V. Torres, P. Harris, 2009, Annual review of medicine.

Autosomal dominant polycystic kidney disease: the last 3 years.

V. Torres, P. Harris, Peter C Harris, 2009, Kidney international.

MicroRNA501‐5p induces p53 proteasome degradation through the activation of the mTOR/MDM2 pathway in ADPKD cells

G. Aguiari, P. Pinton, P. Harris, 2018, Journal of cellular physiology.

Blood pressure in early autosomal dominant polycystic kidney disease.

Kaleab Z. Abebe, Charity G Moore, K. Bae, 2014, The New England journal of medicine.

Autosomal dominant polycystic kidney disease

Yves Pirson, V. Torres, P. Harris, 1992, The Lancet.

Long-Term Administration of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease.

Marie E. Edwards, T. Kline, M. Irazabal, 2018, Clinical journal of the American Society of Nephrology : CJASN.

Transcriptome analysis reveals manifold mechanisms of cyst development in ADPKD

W. Richards, J. Glazier, A. Wandinger-Ness, 2016, Human Genomics.

Tolvaptan plus pasireotide shows enhanced efficacy in a PKD1 model.

P. Harris, K. Hopp, Xiaofang Wang, 2015, Journal of the American Society of Nephrology : JASN.

Effects of hydration in rats and mice with polycystic kidney disease.

M. Irazabal, V. Torres, P. Harris, 2015, American journal of physiology. Renal physiology.

Phosphodiesterase 1A modulates cystogenesis in zebrafish.

V. Torres, P. Harris, C. Ward, 2014, Journal of the American Society of Nephrology : JASN.

Cyclic nucleotide signaling in polycystic kidney disease.

V. Torres, P. Harris, Xiaofang Wang, 2010, Kidney international.

Disease Stage Characterization of Hepatorenal Fibrocystic Pathology in the PCK Rat Model of ARPKD

Yun Liang, P. Harris, V. Gattone, 2010, Anatomical record.

Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases

V. Torres, P. Harris, Peter C Harris, 2006, Nature Clinical Practice Nephrology.

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

Vicente E. Torres, Dawn S. Milliner, Peter C. Harris, 2002, Nature Genetics.

Follow-up of intracranial aneurysms in autosomal-dominant polycystic kidney disease.

Robert D. Brown, V. Torres, P. Harris, 2004, Kidney international.

Parallel microarray profiling identifies ErbB4 as a determinant of cyst growth in ADPKD and a prognostic biomarker for disease progression.

P. Harris, D. Peters, S. Rossetti, 2017, American journal of physiology. Renal physiology.

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

Vladimir G. Gainullin, V. Torres, P. Harris, 2012, The Journal of clinical investigation.

Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials.

Bradley J Erickson, Laureano J Rangel, Eric J Bergstralh, 2015, Journal of the American Society of Nephrology : JASN.

Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.

Kaleab Z. Abebe, D. Landsittel, K. Bae, 2016, Journal of the American Society of Nephrology : JASN.

A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan.

A. Chapman, M. Mrug, R. Mustafa, 2018, Journal of the American Society of Nephrology : JASN.

Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy.

Shiaulou Yuan, V. Torres, P. Harris, 2013, Journal of molecular and cellular cardiology.

Autosomal dominant polycystic kidney disease.

V. Torres, P. Harris, V E Torres, 2003, Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia.

Modulation of Polycystic Kidney Disease Severity by Phosphodiesterase 1 and 3 Subfamilies.

C. Vorhees, J. V. van Deursen, M. Irazabal, 2016, Journal of the American Society of Nephrology : JASN.

Genomics Integration Into Nephrology Practice

J. Lieske, P. Harris, M. Hogan, 2021, Kidney medicine.

Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.

M. Adams, E. Eichler, J. Venter, 1999, Genomics.

Quantitative assessment of hepatic fibrosis in an animal model with magnetic resonance elastography

Armando Manduca, Richard L Ehman, Meng Yin, 2007, Magnetic resonance in medicine.

Quantitative MRI of kidneys in renal disease

Bradley J Erickson, Panagiotis Korfiatis, Sudhakar K Venkatesh, 2018, Abdominal Radiology.

Image texture features predict renal function decline in patients with autosomal dominant polycystic kidney disease.

Bradley J Erickson, Panagiotis Korfiatis, Douglas Landsittel, 2017, Kidney international.

Molecular Pathogenesis of Genetic and Inherited Diseases Biliary Dysgenesis in the PCK Rat , an Orthologous Model of Autosomal Recessive Polycystic Kidney Disease

E. Ritman, N. LaRusso, V. Torres, 2004 .

Molecular genetics of autosomal recessive polycystic kidney disease.

P. Harris, S. Rossetti, 2004, Molecular genetics and metabolism.

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated

E. Ars, P. Harris, J. Ballarín, 2015, BMC Medical Genetics.

The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees.

G. Germino, S. Somlo, C. Antignac, 2015, Journal of the American Society of Nephrology : JASN.

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.

J. Kere, L. Pelletier, N. Sebire, 2015, American journal of human genetics.

Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel

H. Cantiello, M. Arnaout, P. Harris, 2001 .

EGF receptor tyrosine kinase inhibition attenuates the development of PKD in Han:SPRD rats.

E. Avner, P. Frost, V. Torres, 2003, Kidney international.

Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene.

G. Landes, O. Ibraghimov-Beskrovnaya, C. Walker, 2001, Molecular cell.

Neonatal presentation of autosomal dominant polycystic kidney disease with a maternal history of tuberous sclerosis.

V. Torres, P. Harris, D. Milliner, 1997, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Generation and phenotypic characterization of Pde1a mutant mice

A. Behfar, J. V. van Deursen, M. Irazabal, 2017, PloS one.

B-type natriuretic peptide overexpression ameliorates hepatorenal fibrocystic disease in a rat model of polycystic kidney disease.

N. LaRusso, Y. Ikeda, M. Ramirez-Alvarado, 2017, Kidney international.

Cyclic nucleotide signaling in polycystic kidney

V. Torres, P. Harris, C. Ward, 2010 .

Deficiency of polycystic kidney disease-1 gene (PKD1) expression increases A(3) adenosine receptors in human renal cells: implications for cAMP-dependent signalling and proliferation of PKD1-mutated cystic cells.

G. Aguiari, L. del Senno, R. Rizzuto, 2009, Biochimica et biophysica acta.

Hyperproliferation of PKD1 cystic cells is induced by insulin-like growth factor-1 activation of the Ras/Raf signalling system.

M. O'hare, P. Harris, S. Rossetti, 2007, Kidney international.

Successful disease-specific induced pluripotent stem cell generation from patients with kidney transplantation

Y. Kudva, Y. Ikeda, P. Harris, 2011, Stem Cell Research & Therapy.

Impaired Hedgehog-Gli1 Pathway Activity Underlies the Vascular Phenotype of Polycystic Kidney Disease

T. Kline, V. Torres, P. Harris, 2020, Hypertension.

Endothelial Dysfunction Occurs prior to Clinical Evidence of Polycystic Kidney Disease

L. Lerman, P. Harris, M. Rodriguez-Porcel, 2013, American Journal of Nephrology.

Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

P. Harris, C. Ward, J. L. San Millán, 1996, American journal of human genetics.

Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene

S. Somlo, X. Lens, F. Moreno, 1997, Human Genetics.

Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue.

P. Harris, C. Ward, Y. Pei, 1999, The American journal of pathology.

Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

N. LaRusso, V. Torres, P. Harris, 2003, Human molecular genetics.

Identification and characterization of the tuberous sclerosis gene on chromosome 16

S. Thomas, S. Verhoef, B. Janssen, 1993, Cell.

Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1

P. Harris, 2002, Current opinion in nephrology and hypertension.

The TSC2/PKD1 contiguous gene syndrome.

P. Harris, 1997, Contributions to nephrology.

Polycystic kidney disease. 1: Identification and analysis of the primary defect.

J. Hughes, P. Harris, C. Ward, 1995, Journal of the American Society of Nephrology : JASN.

Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.

J. Lamb, Y. Nakamura, G. Germino, 1990, American journal of human genetics.

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

J. Lamb, A. Wilkie, P. Harris, 1990, American journal of human genetics.

Characterization of three de novo derivative chromosomes 16 by "reverse chromosome painting" and molecular analysis.

J. Armour, P. Harris, P. Rudd, 1993, American journal of human genetics.

Closeout of the HALT-PKD trials.

Kaleab Z. Abebe, K. Bae, C. Moore, 2015, Contemporary clinical trials.

Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.

Marie E. Edwards, K. Bae, A. Chapman, 2019, Kidney international.

Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease

P. Harris, A. Ong, M. Durkie, 2020, Genetics in Medicine.

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease

M. Abu-Farha, J. Abubaker, F. Al-Mulla, 2019, Scientific Reports.

Haplotype analysis in autosomal dominant polycystic kidney disease.

A. Wright, P. Harris, P. Pignatelli, 1995, Journal of medical genetics.

Results ANALYSIS OF PKD 1 RECOMBINANTS One hundred and ninety two informative

A. Wright, P. Harris, P. Pignatelli, 2022 .

The genetics of kidney stone disease and nephrocalcinosis

J. Lieske, P. Harris, David J Sas, 2021, Nature Reviews Nephrology.

The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project

G. Cavalleri, F. Hildebrandt, P. Harris, 2022, Journal of Nephrology.

Establishing a nephrology genetic clinic.

J. Lieske, P. Harris, M. Hogan, 2021, Kidney international.

Growth Pattern of Kidney Cyst Number and Volume in Autosomal Dominant Polycystic Kidney Disease.

D. Landsittel, K. Bae, C. Tao, 2019, Clinical journal of the American Society of Nephrology : CJASN.

Classical Polycystic Kidney Disease: Gene Structures and Mutations and Protein Structures and Functions

Emilie Cornec-Le Gall, P. Harris, E. Gall, 2018 .

Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease.

M. Irazabal, V. Torres, P. Harris, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

The mutation, a key determinant of phenotype in ADPKD.

P. Harris, K. Hopp, 2013, Journal of the American Society of Nephrology : JASN.

The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1.

V. Torres, P. Harris, S. Rossetti, 2003, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Clinical characterization of primary hyperoxaluria type 3 in comparison to types 1 and 2: a retrospective cohort study.

J. Lieske, P. Harris, D. Milliner, 2021, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Prognostic Value of Fibroblast Growth Factor 23 in Autosomal Dominant Polycystic Kidney Disease

D. Landsittel, K. Bae, A. Chapman, 2021, Kidney international reports.

The value of genotypic and imaging information to predict functional and structural outcomes in ADPKD.

D. Landsittel, K. Bae, T. Kline, 2020, JCI insight.

Attenuated, flow-induced ATP release contributes to absence of flow-sensitive, purinergic Cai2+ signaling in human ADPKD cyst epithelial cells.

Angela Wandinger-Ness, A. Wandinger-Ness, P. Harris, 2009, American journal of physiology. Renal physiology.

Food Restriction Ameliorates the Development of Polycystic Kidney Disease.

V. Torres, P. Harris, K. Hopp, 2016, Journal of the American Society of Nephrology : JASN.

Mesenchymal Stromal Cells Improve Renovascular Function in Polycystic Kidney Disease

L. Lerman, P. Harris, M. Rodriguez-Porcel, 2015, Cell transplantation.

Polycystin-1 regulates amphiregulin expression through CREB and AP1 signalling: implications in ADPKD cell proliferation

E. Magri, M. Pedriali, P. Querzoli, 2012, Journal of Molecular Medicine.

Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation

B. Scheithauer, K. Kovacs, D. Babovic‐Vuksanovic, 2012, Pituitary.

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

E. Ars, V. Torres, P. Harris, 2010, Journal of the American Society of Nephrology : JASN.

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.

V. Torres, P. Harris, V. Gattone, 2009, Human molecular genetics.

NF-κB activation is required for apoptosis in fibrocystin/polyductin-depleted kidney epithelial cells

R. Gambari, M. Borgatti, G. Aguiari, 2009, Apoptosis.

Gene (PKD1) by a Novel Approach

K. Zerres, P. Harris, C. Winearls, 2006 .

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.

Roser Torra, E. Coto, V. Torres, 2003, Kidney international.

A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation.

N. LaRusso, V. Torres, P. Harris, 2007, Kidney international.

Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis

D. Chitayat, A. Toi, P. Harris, 2004, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.

V. Torres, P. Harris, K. Hopp, 2011, Human molecular genetics.

Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3

E. Bakker, V. Torres, P. Harris, 2007, Human Genetics.

Genetic Etiologies, Diagnosis, and Management of Neonatal Cystic Kidney Disease.

P. Harris, Christian Hanna, E. Bendel-Stenzel, 2022, NeoReviews.

Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models.

V. Torres, P. Harris, K. Hopp, 2019, Journal of the American Society of Nephrology : JASN.

Proteolytic Cleavage and Nuclear Translocation of Fibrocystin Is Regulated by Intracellular Ca2+ and Activation of Protein Kinase C*

N. LaRusso, P. Igarashi, P. Koulen, 2006, Journal of Biological Chemistry.

Fast Track Effectiveness of Vasopressin V 2 Receptor Antagonists OPC-31260 and OPC-41061 on Polycystic Kidney Disease Development in the PCK Rat

V. Torres, P. Harris, V. Gattone, 2005 .

Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat.

N. LaRusso, V. Torres, P. Harris, 2003, Gastroenterology.

Volume Progression and Imaging Classification of Polycystic Liver in Early Autosomal Dominant Polycystic Kidney Disease

Kaleab Z. Abebe, D. Landsittel, C. Tao, 2022, Clinical journal of the American Society of Nephrology : CJASN.

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype

Jeffrey M Slezak, E. Bergstralh, F. Stewart, 2003, The Lancet.

Co‐inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease

H. Cantiello, G. Dedoussis, P. Harris, 2008, European journal of clinical investigation.

Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells.

S. Somlo, V. Torres, P. Harris, 2003, Human molecular genetics.

Functional megalin is expressed in renal cysts in a mouse model of adult polycystic kidney disease

L. Sunde, V. Torres, P. Harris, 2021, Clinical kidney journal.

Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease.

F. Cosio, J. Miller, K. Bae, 2006, Journal of the American Society of Nephrology : JASN.

Inherited renal cystic diseases

T. Vrtiska, Bohyun Kim, M. Irazabal, 2016, Abdominal Radiology.

[Ca2+]i Reduction Increases Cellular Proliferation and Apoptosis in Vascular Smooth Muscle Cells: Relevance to the ADPKD Phenotype

S. Somlo, V. Torres, P. Harris, 2005, Circulation research.

Molecular diagnostics of ADPKD coming of age.

Peter C. Harris, P. Harris, S. Rossetti, 2008, Clinical journal of the American Society of Nephrology : CJASN.

Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction.

Jing Zhou, Donald E Ingber, Mahmoud Loghman-Adham, 2006, Journal of the American Society of Nephrology : JASN.

Pansomatostatin Agonist Pasireotide Long-Acting Release for Patients with Autosomal Dominant Polycystic Kidney or Liver Disease with Severe Liver Involvement: A Randomized Clinical Trial.

Marie E. Edwards, Lisa E. Vaughan, W. Kremers, 2020, Clinical journal of the American Society of Nephrology : CJASN.

Insignificant effect of secretin in rodent models of polycystic kidney and liver disease.

N. LaRusso, V. Torres, P. Harris, 2012, American journal of physiology. Renal physiology.

Interactions between FGF23 and Genotype in Autosomal Dominant Polycystic Kidney Disease.

M. Wolf, A. Chapman, M. Chonchol, 2020, Kidney360.

Pancreatic Cysts and Intraductal Papillary Mucinous Neoplasm in Autosomal Dominant Polycystic Kidney Disease

Marie E. Edwards, W. Kremers, N. Takahashi, 2019, Pancreas.

University of Groningen Can we further enrich autosomal dominant polycystic kidney disease clinical trials for rapidly progressive patients?

Emilie Cornec-Le Gall, R. Gansevoort, A. Chapman, 2018 .

Congenital Heart Disease in Adults with Autosomal Dominant Polycystic Kidney Disease

M. Irazabal, P. Harris, M. Hogan, 2022, American Journal of Nephrology.

Pain and Obesity in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis of the Halt Progression of Polycystic Kidney Disease (HALT-PKD) Studies

Kaleab Z. Abebe, A. Chapman, M. Chonchol, 2021, Kidney medicine.

ADPKD Progression in Patients With No Apparent Family History and No Mutation Detected by Sanger Sequencing.

Kaleab Z. Abebe, K. Bae, A. Chapman, 2018, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Bacterial Cholangitis in Autosomal Dominant Polycystic Kidney and Liver Disease

Marie E. Edwards, Lisa E. Vaughan, W. Kremers, 2019, Mayo Clinic proceedings. Innovations, quality & outcomes.

The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.

M. Patterson, V. Torres, P. Harris, 2018, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Autosomal dominant polycystic kidney disease: neoplasia in disguise?

P. Harris, M. Watson, 1997, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Multiple unilateral subcapsular cortical hemorrhagic cystic disease of the kidney: CT and MRI findings and clinical characteristic

N. Takahashi, A. Kawashima, V. Torres, 2019, European Radiology.

Tuberous sclerosis complex and polycystic kidney disease together: An exception to the contiguous gene syndrome

P. Harris, H. Northrup, K. Au, 2006, Genetics in Medicine.

Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.

R. Stallings, F. Moreno, P. Harris, 1994, American journal of human genetics.

Clinical Features and Molecular Analysis of the a Thalsemia/Mental Retardation Syndromes. 1. Cases Due to Deletions Involving Chromosome Band 16pl3.3

D. Weatherall, D. Higgs, P. Harris, 2006 .

Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes.

P. Harris, C. Ward, M. Couillard, 2010, Human molecular genetics.

Clinical Features andMolecular Analysis ofthea Thalsemia/Mental Retardation Syndromes. 1.CasesDueto Deletions Involving ChromosomeBand16pl3.3

J. Lamb, J. Tolmie, D. Weatherall, 1990 .

DETECTION OF BREAKPOINTS IN SUBMICROSCOPIC CHROMOSOMAL TRANSLOCATION, ILLUSTRATING AN IMPORTANT MECHANISM FOR GENETIC DISEASE

J. Lamb, D. Weatherall, D. Higgs, 1989, The Lancet.

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

Gavin R. Oliver, P. Blackburn, A. Nair, 2018, European Journal of Human Genetics.

De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).

J. Lamb, A. Wilkie, D. Higgs, 1993, American journal of human genetics.

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.

D. Tellería, P. Harris, J. L. San Millán, 1999, Kidney international.

Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).

A. Wright, G. Germino, S. Somlo, 1994, American journal of human genetics.

GTP-binding of ARL-3 is activated by ARL-13 as a GEF and stabilized by UNC-119

V. Torres, P. Harris, Jinghua Hu, 2016, Scientific Reports.

Polycystic kidney disease in 2011: Connecting the dots toward a polycystic kidney disease therapy

V. Torres, P. Harris, 2012, Nature Reviews Nephrology.

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

P. Trouvé, P. Harris, B. Knebelmann, 2022, American journal of human genetics.

Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation

S. Mane, J. Lieske, R. Lifton, 2016, Human Genome Variation.

Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families

P. Harris, A. Pierides, C. Deltas, 2000, Human mutation.

Functional characterization of PKDREJ, a male germ cell‐restricted polycystin

P. Harris, C. Ward, M. Jungnickel, 2006, Journal of cellular physiology.

Differential Expression of Renal Proteins in a Rodent Model of Meckel Syndrome

P. Harris, R. Bacallao, S. Mason, 2010, Nephron Experimental Nephrology.

The molecular genetics of tuberous sclerosis.

P. Harris, J. Sampson, 1994, Human molecular genetics.

Characterization ofThreeDeNovoDerivative Chromosomes 16by"Reverse ChromosomePainting" andMolecular Analysis

J. Armour, P. Harris, P. Rudd, 1993 .

Homophilic and heterophilic polycystin 1 interactions regulate E-cadherin recruitment and junction assembly in MDCK cells

P. Harris, C. Ward, A. Ong, 2009, Journal of Cell Science.

Can we further enrich autosomal dominant polycystic kidney disease clinical trials for rapidly progressive patients? Application of the PROPKD score in the TEMPO trial

R. Gansevoort, A. Chapman, M. Irazabal, 2017, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Re ﬁ ning Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease

A. Paterson, M. Haider, Jannel Liu, 2016 .

mtor Haploinsufficiency Ameliorates Renal Cyst Formation in Adult Zebrafish tmem67 Mutants

Xueying Lin, P. Harris, P. Zhu, 2019, bioRxiv.

Progress in the understanding of polycystic kidney disease

V. Torres, P. Harris, 2019, Nature Reviews Nephrology.

Disrupting polycystin-2 EF hand Ca2+ affinity does not alter channel function or contribute to polycystic kidney disease

K. Dong, S. Somlo, Leo C. T. Ng, 2020, Journal of Cell Science.

Clinical and molecular characterization of primary hyperoxaluria in Egypt

P. Harris, D. Milliner, A. Cogal, 2022, Scientific Reports.

Bariatric surgery in a patient with cystinuria

D. Goldfarb, P. Harris, A. Cogal, 2021, Clinical nephrology. Case studies.

The mouse homologue of the polycystic kidney disease gene (Pkd1) is a single-copy gene.

P. Harris, S. Horsley, A. Frischauf, 1996, Genomics.

Molecular basis of renal cyst formation—one hit or two?

P. Harris, A. Ong, 1997, The Lancet.

The PKD1 gene product

G. Germino, P. Harris, G. Landes, 1995, Nature Medicine.

Cardiovascular Outcomes in Kidney Transplant Recipients With ADPKD

Byron H. Smith, V. Nkomo, P. Harris, 2022, Kidney international reports.

What is the role of somatic mutation in autosomal dominant polycystic kidney disease?

P. Harris, 2010, Journal of the American Society of Nephrology : JASN.

Polycystic Kidney Disease (PKD) Genes

P. Harris, 2002 .

Polycystic Disease of the Kidney

P. Harris, 2001 .

Distinguishing between Hepatic Inflammation and Fibrosis with MR Elastography.

A. Manduca, R. Ehman, M. Yin, 2017, Radiology.

Polycystic kidney disease

L. Guay-Woodford, V. Torres, P. Harris, 2018, Nature Reviews Disease Primers.

RNA helicase p68 inhibits the transcription and post-transcription of Pkd1 in ADPKD

J. Calvet, P. Harris, Xiaogang Li, 2020, Theranostics.

The time for next-generation molecular genetic diagnostics in nephrology is now!

P. Harris, 2018, Kidney international.

THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16

Siep Thomas, S. Verhoef, J. Hughes, 1994 .

Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

X. Estivill, E. Serra, P. Harris, 1998, Human mutation.

Utilizing magnetization transfer imaging to investigate tissue remodeling in a murine model of autosomal dominant polycystic kidney disease

Bradley J. Erickson, Panagiotis Korfiatis, Timothy L. Kline, 2015, Magnetic resonance in medicine.

Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy.

Dawn S Milliner, Rajiv Kumar, R. Kumar, 2012, The Journal of clinical endocrinology and metabolism.

Primary Hyperoxaluria Type 3 Can Also Result in Kidney Failure: A Case Report.

J. Lieske, P. Harris, D. Milliner, 2021, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Recent advances in the identification and management of inherited hyperoxalurias

P. Harris, D. Milliner, David J. Sas, 2018, Urolithiasis.

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.

S. Somlo, S. Baheti, C. Férec, 2018, American journal of human genetics.

Vasopressin and disruption of calcium signalling in polycystic kidney disease

V. Torres, P. Harris, Xiaofang Wang, 2015, Nature Reviews Nephrology.

Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats.

E. Avner, P. Frost, V. Torres, 2004, Kidney international.

Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations.

Benjamin S. Freedman, J. Bonventre, P. Harris, 2013, Journal of the American Society of Nephrology : JASN.

Progress and prospects in rat genetics: a community view

Edwin Cuppen, Carol Moreno, Dominique Gauguier, 2008, Nature Genetics.

Germline PKHD1 mutations are protective against colorectal cancer

S. Thibodeau, G. Petersen, L. Boardman, 2011, Human Genetics.

Structure of the human 3-methyladenine DNA glycosylase gene and localization close to the 16p telomere.

P. Vyas, D. Higgs, P. Harris, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

W. Brown, A. Wilkie, D. Higgs, 1991, Cell.

A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype.

J. Sharpe, J. Sloane-Stanley, L. Strmečki, 2000, Human molecular genetics.

Identification and characterization of the tuberous sclerosis gene on chromosome 16

S. Thomas, S. Verhoef, B. Janssen, 1993, Cell.

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

J. Hughes, P. Harris, C. Ward, 1994, Nature Genetics.

A complete mutation screen of the ADPKD genes by DHPLC.

V. Torres, P. Harris, S. Rossetti, 2002, Kidney international.

Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability.

A J Jeffreys, A. Jeffreys, J. Armour, 1993, Human molecular genetics.

Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker

P. Ratcliffe, P. Harris, M. Breuning, 1991, The Lancet.

A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.

V. Pankratz, E. Puffenberger, K. Strauss, 2011, Ophthalmology.

A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

A. Wilkie, D. Higgs, P. Harris, 1990, Nature.

Protein Kinase A Downregulation Delays the Development and Progression of Polycystic Kidney Disease

K. Hoeflich, G. McKnight, V. Torres, 2022, Journal of the American Society of Nephrology : JASN.

The regulatory 1α subunit of protein kinase A modulates renal cystogenesis.

M. Irazabal, V. Torres, P. Harris, 2017, American journal of physiology. Renal physiology.

Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia.

P. Harris, R. Trent, T. Wilkinson, 1990, Blood.

Precision gene editing technology and applications in nephrology

S. Ekker, Gabriel Martínez-Gálvez, P. Harris, 2018, Nature Reviews Nephrology.

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

J. Miller, K. Bae, P. Thompson, 2007, Journal of the American Society of Nephrology : JASN.

A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus.

A. Wilkie, D. Higgs, P. Harris, 1990, Genomics.

Cross-talk between CDK4/6 and SMYD2 regulates gene transcription, tubulin methylation, and ciliogenesis

Xiaodong Wang, J. Calvet, P. Harris, 2020, Science Advances.

Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog

P. Harris, O. Hino, J. Cheadle, 1997, Mammalian Genome.

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

A. Bakkaloğlu, L. Strmečki, P. Harris, 2001, American journal of human genetics.

Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.

A. Paterson, P. Harris, Y. Pei, 2018, Journal of the American Society of Nephrology : JASN.

Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains.

S. Brenner, C. Chothia, A. Bateman, 1997, Human molecular genetics.

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease

M. Abu-Farha, J. Abubaker, F. Al-Mulla, 2019, Scientific Reports.

microRNA-17 family promotes polycystic kidney disease progression through modulation of mitochondrial metabolism

P. Igarashi, V. Kaimal, K. Aboudehen, 2017, Nature Communications.

Characterization of the telomeric region of human chromosome 16p

P. Vyas, D. Higgs, P. Harris, 1993 .

Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin.

J. V. van Deursen, Yanhong Wu, V. Torres, 2011, Journal of the American Society of Nephrology : JASN.

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

V. Torres, P. Harris, E. Cornec-Le Gall, 2017, Journal of the American Society of Nephrology : JASN.

Characterization of PKD protein-positive exosome-like vesicles.

N. LaRusso, A. Leontovich, V. Torres, 2009, Journal of the American Society of Nephrology : JASN.

Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease.

P. Harris, S. Rossetti, 2007, Journal of the American Society of Nephrology : JASN.

PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression.

V. Torres, P. Harris, C. Ward, 2003, Human molecular genetics.

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

J. Hughes, P. Harris, C. Ward, 1995, Nature Genetics.

Polycystic kidney disease

L. Guay-Woodford, V. Torres, P. Harris, 2017, Nature Reviews Disease Primers.

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

A. Köttgen, J. Florez, M. Jadoul, 2022, Kidney international.

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

Colin A. Johnson, R. Trembath, V. Torres, 2006, Nature Genetics.

Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutant.

Kenji Nakamura, M. Katsuki, A. Aiba, 2002, Human molecular genetics.

The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).

P. Harris, S. Rossetti, 2013, Current hypertension reviews.

Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease.

Robert D. Brown, M. Irazabal, V. Torres, 2011, Clinical journal of the American Society of Nephrology : CJASN.

A polycystin-centric view of cyst formation and disease: the polycystins revisited

P. Harris, A. Ong, 2015, Kidney international.

Strategies targeting cAMP signaling in the treatment of polycystic kidney disease.

V. Torres, P. Harris, 2014, Journal of the American Society of Nephrology : JASN.

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

M. Marlais, P. Winyard, P. Harris, 2019, Nature Reviews Nephrology.

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

K. Bae, S. Özen, A. Chapman, 2008, Kidney international.

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.

E. Haan, P. Harris, D. Ravine, 1997, American journal of human genetics.

mtor Haploinsufficiency Ameliorates Renal Cysts and Cilia Abnormality in Adult Zebrafish tmem67 Mutants.

Xueying Lin, P. Harris, P. Zhu, 2021, Journal of the American Society of Nephrology : JASN.

Identification, Characterization, and Localization of a Novel Kidney Polycystin-1-Polycystin-2 Complex*

P. Harris, C. Ward, A. Ong, 2002, The Journal of Biological Chemistry.

Population data improves variant interpretation in autosomal dominant polycystic kidney disease

J. Shine, M. Cowley, P. Harris, 2018, Genetics in Medicine.

Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein.

J. Hughes, P. Harris, C. Ward, 1999, Human molecular genetics.

Evidence of a third ADPKD locus is not supported by reanalysis of designated PKD3 families

E. Coto, M. Clementi, V. Torres, 2013, Kidney international.

P. Harris, J. Cheadle, A. C. Jones, 1997, Human molecular genetics.

Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney disease

P. Scambler, S. Walker-Samuel, A. Woolf, 2019, eLife.

Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel.

H. Cantiello, M. Arnaout, P. Harris, 2001, Proceedings of the National Academy of Sciences of the United States of America.

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

B. Eckloff, V. Torres, P. Harris, 2012, Journal of the American Society of Nephrology : JASN.

Genetic variation of DKK3 may modify renal disease severity in ADPKD.

A. Paterson, M. Laakso, E. Coto, 2010, Journal of the American Society of Nephrology : JASN.

Glomerular Pathology in Dent Disease and Its Association with Kidney Function.

Lisa E. Vaughan, F. Anglani, J. Lieske, 2016, Clinical journal of the American Society of Nephrology : CJASN.

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing

Marcus J Hinchcliffe, J. Shine, M. Cowley, 2021, European Journal of Human Genetics.

Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients

M. Romero, J. Lieske, P. Harris, 2016, Physiological reports.

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion.

J. Sloane-Stanley, F. Moreno, P. Harris, 1995, Human molecular genetics.

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

V. Torres, P. Harris, K. Hopp, 2009, Kidney international.

Autosomal Dominant Polycystic Kidney Patients May Be Predisposed to Various Cardiomyopathies

A. Behfar, M. Irazabal, V. Torres, 2017, Kidney international reports.

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.

Adriana V Gregory, Adriana V. Gregory, T. Kline, 2021, American journal of human genetics.

Polycystic Kidney Disease without an Apparent Family History.

A. Paterson, J. Conklin, P. Harris, 2017, Journal of the American Society of Nephrology : JASN.

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.

A. Paterson, M. Haider, J. Conklin, 2016, Journal of the American Society of Nephrology : JASN.

Molecular diagnostics for autosomal dominant polycystic kidney disease

P. Harris, S. Rossetti, 2010, Nature Reviews Nephrology.

Investigation of Primary Cilia in the Pathogenesis of Biliary Atresia

P. Harris, C. Ward, S. Rossetti, 2011, Journal of pediatric gastroenterology and nutrition.

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

R. Roepman, N. Sebire, M. Ueffing, 2013, Nature Genetics.

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

K. Zerres, S. Rudnik-Schöneborn, G. Germino, 2004, Human mutation.

The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait

M. Abu-Farha, T. Thanaraj, A. Mohammad, 2022, Clinical kidney journal.

Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county

Adriana V Gregory, Adriana V. Gregory, J. Killian, 2020, JHEP reports : innovation in hepatology.

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.

Marie E. Edwards, V. Tasic, A. Chapman, 2016, American journal of human genetics.

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease

J. Lieske, D. Goldfarb, P. Harris, 2021, Kidney international reports.

Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease.

V. Torres, P. Harris, 2014, The Journal of clinical investigation.

Overweight and Obesity Are Predictors of Progression in Early Autosomal Dominant Polycystic Kidney Disease.

Kaleab Z. Abebe, K. Bae, A. Chapman, 2017, Journal of the American Society of Nephrology : JASN.

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

P. Harris, P. Czarnecki, Cynthia J. Hommerding, 2013, Human molecular genetics.

Ciliopathy protein HYLS1 coordinates the biogenesis and signaling of primary cilia by activating the ciliary lipid kinase PIPKIγ

P. Harris, Qingwen Xu, Jinghua Hu, 2021, Science Advances.

Autophagy activators suppress cystogenesis in an autosomal dominant polycystic kidney disease model

Xueying Lin, P. Harris, P. Zhu, 2016, Human molecular genetics.

A polycystin-1 multiprotein complex is disrupted in polycystic kidney disease cells.

Angela Wandinger-Ness, Christopher J Ward, A. Wandinger-Ness, 2003, Molecular biology of the cell.

Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III.

T. Lindahl, I. Hickson, P. Harris, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.

D. Dawson, P. Lundquist, P. Harris, 2007, Journal of the American Society of Nephrology : JASN.

Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation

J. Lieske, P. Harris, A. Cogal, 2020, Kidney international reports.

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

J. Lieske, P. Harris, K. Hopp, 2015, Journal of the American Society of Nephrology : JASN.

Netrin-1 overexpression induces polycystic kidney disease - a novel mechanism contributing cystogenesis in ADPKD.

M. Thangaraju, P. Harris, A. Kistler, 2022, The American journal of pathology.

Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes

N. Rifai, Weining Lu, P. Harris, 1999, Nature Genetics.

Strategy and rationale for urine collection protocols employed in the NEPTUNE study

J. Lieske, W. Ju, M. Bitzer, 2015, BMC Nephrology.

Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL

R. Eils, A. Jauch, K. Saracoglu, 2000, European Journal of Human Genetics.

Treatment prospects for autosomal-dominant polycystic kidney disease.

V. Torres, P. Harris, Q. Qian, 2001, Kidney international.

The Underestimated Burden of Monogenic Diseases in Adult-Onset ESRD.

P. Harris, E. Cornec-Le Gall, 2018, Journal of the American Society of Nephrology : JASN.

Facilitated diagnosis of the contiguous gene syndrome: tuberous sclerosis and polycystic kidneys by means of haplotype studies.

X. Estivill, P. Harris, R. Torra, 1998, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Primary results of the randomized trial of metformin administration in polycystic kidney disease (TAME PKD).

Kaleab Z. Abebe, K. Bae, C. Tao, 2021, Kidney international.

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

Gavin R. Oliver, Asha A. Nair, P. Blackburn, 2018, European Journal of Human Genetics.

Cl− and H+ coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl−/H+ exchanger ClC-5

M. Romero, J. Lieske, P. Harris, 2019, The Journal of Biological Chemistry.

Bone health in autosomal dominant polycystic kidney disease (ADPKD) patients after kidney transplantation

Byron H. Smith, Adriana V. Gregory, T. Kline, 2023, Bone reports.

Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts

J. Lieske, D. Goldfarb, P. Harris, 2019, Pediatric Nephrology.

Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?

F. Anglani, J. Lieske, P. Harris, 2021, Genes.

Volume regression of native polycystic kidneys after renal transplantation.

F. Cosio, M. Irazabal, V. Torres, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Polycystic Kidney Disease , Autosomal Dominant Synonym : ADPKD

P. Harris, 2016 .

Long-term trajectory of kidney function in autosomal-dominant polycystic kidney disease.

D. Landsittel, K. Bae, L. Cook, 2019, Kidney international.

Epidemiology of Autosomal Dominant Polycystic Kidney Disease in Olmsted County.

Marie E. Edwards, J. Killian, A. Chamberlain, 2019, Clinical journal of the American Society of Nephrology : CJASN.

Imaging-based diagnosis of autosomal dominant polycystic kidney disease.

M. Haider, J. Conklin, P. Harris, 2015, Journal of the American Society of Nephrology : JASN.

Asymptomatic Pyuria as a Prognostic Biomarker in Autosomal Dominant Polycystic Kidney Disease

Adriana V Gregory, Adriana V. Gregory, T. Kline, 2021, Kidney360.

2008 Homer W. Smith Award: insights into the pathogenesis of polycystic kidney disease from gene discovery.

P. Harris, 2009, Journal of the American Society of Nephrology : JASN.

Determinants of renal disease variability in ADPKD.

P. Harris, S. Rossetti, 2010, Advances in chronic kidney disease.

Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics

P. Harris, S. Rossetti, H. K. Khorshid, 2013, BMC Nephrology.

Chapter 7 – Autosomal Recessive Polycystic Kidney Disease

V. Torres, P. Harris, 2008 .

Clinical and Molecular Characterization Defines a Broadened Spectrum of Autosomal Recessive Polycystic Kidney Disease (ARPKD)

P. Kamath, V. Torres, P. Harris, 2006, Medicine.

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.

V. Pankratz, E. Avner, J. Cunningham, 2005, American journal of kidney diseases : the official journal of the National Kidney Foundation.

ANKS 6 is a central component of a nephronophthisis module linking NEK 8 to INVS and NPHP 3

Sophie, R. Roepman, N. Sebire, 2013 .

Insigniﬁcant effect of secretin in rodent models of polycystic kidney and liver disease

N. LaRusso, P. Harris, Xiaofang Wang, 2012 .

Angiotensin blockade in late autosomal dominant polycystic kidney disease.

Kaleab Z. Abebe, C. Moore, A. Chapman, 2014, The New England journal of medicine.

The role of DNA damage as a therapeutic target in autosomal dominant polycystic kidney disease

G. Rangan, P. Harris, A. Munt, 2019, Expert Reviews in Molecular Medicine.

Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects.

P. Harris, C. Ward, A. Perez-Atayde, 2001, Human molecular genetics.

Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner.

P. Harris, K. Hopp, C. Ward, 2015, The Journal of clinical investigation.

biomicroscopymice by noninvasive ultrasound β Characterization of circulatory disorders in

Damien Garcia, P. Harris, C. Ward, 2007 .

A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).

P. Harris, J. L. San Millán, A. Ong, 1996, Human molecular genetics.

Metalloproteinase PAPP-A regulation of IGF-1 contributes to polycystic kidney disease pathogenesis.

C. Conover, C. Oxvig, V. Torres, 2020, JCI insight.

Identification of a gene for autosomal dominant polycystic kidney disease: implications for understanding the pathogenesis and treatment of the disease

P. Harris, 1996 .

Identification of a gene for autosomal dominant polycystic kidney disease: implications for understanding the pathogenesis and treatment of the disease.

P. Harris, 1996, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Autosomal dominant polycystic kidney disease: molecular analysis.

J. Hughes, P. Harris, C. Ward, 1995, Human molecular genetics.

Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.

P. Ratcliffe, H. Turley, P. Harris, 1996, Proceedings of the National Academy of Sciences of the United States of America.

A potentially crucial role of the PKD1 C-terminal tail in renal prognosis

P. Harris, E. Higashihara, K. Nutahara, 2017, Clinical and Experimental Nephrology.

Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.

K. Zerres, J. Sloane-Stanley, P. Harris, 1997, American journal of human genetics.

Autosomal dominant polycystic kidney disease: clues to pathogenesis.

P. Harris, 1999, Human molecular genetics.

Regulation of polycystin expression, maturation and trafficking.

P. Harris, Jinghua Hu, 2020, Cellular signalling.

Vasopressin directly regulates cyst growth in polycystic kidney disease.

Yanhong Wu, V. Torres, P. Harris, 2008, Journal of the American Society of Nephrology : JASN.

Progression in Polycystic Kidney Disease

K. Bae, S. Klahr, A. Chapman, 2006 .

Polycystic kidney disease: genes, proteins, animal models, disease mechanisms and therapeutic opportunities

V. Torres, P. Harris, V. Torres, 2007, Journal of internal medicine.

The genetic background significantly impacts the severity of kidney cystic disease in the Pkd1RC/RC mouse model of autosomal dominant polycystic kidney disease.

T. Kline, M. Irazabal, V. Torres, 2021, Kidney international.

Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue.

P. Harris, C. Ward, S. Rossetti, 1999, Kidney international.

Fast Track Cyst Number but Not the Rate of Cystic Growth Is Associated with the Mutated Gene in Autosomal Dominant Polycystic Kidney Disease

J. Miller, K. Bae, P. Thompson, 2006 .

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.

P. Harris, A. Ong, A. Mallett, 2020, Kidney international.

Effect of Statin Therapy on the Progression of Autosomal Dominant Polycystic Kidney Disease. A Secondary Analysis of the HALT PKD Trials.

Kaleab Z. Abebe, K. Bae, A. Chapman, 2017, Current hypertension reviews.

Transition fibre protein FBF1 is required for the ciliary entry of assembled intraflagellar transport complexes

V. Torres, P. Harris, Zeng Hu, 2013, Nature Communications.

Prognostic enrichment design in clinical trials for autosomal dominant polycystic kidney disease: the HALT-PKD clinical trial

Kaleab Z. Abebe, K. Bae, A. Chapman, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Utility of new image-derived biomarkers for autosomal dominant polycystic kidney disease prognosis using automated instance cyst segmentation.

Adriana V. Gregory, B. Erickson, D. Landsittel, 2023, Kidney international.

Expanded Imaging Classification of Autosomal Dominant Polycystic Kidney Disease.

Kaleab Z. Abebe, D. Landsittel, K. Bae, 2020, Journal of the American Society of Nephrology : JASN.

Characteristics of Patients with End-Stage Kidney Disease in ADPKD

Marie E. Edwards, Lisa E. Vaughan, T. Kline, 2020, Kidney international reports.

Performance of an Artificial Multi-observer Deep Neural Network for Fully Automated Segmentation of Polycystic Kidneys

Bradley J. Erickson, Panagiotis Korfiatis, Timothy L. Kline, 2017, Journal of Digital Imaging.

Understanding pathogenic mechanisms in polycystic kidney disease provides clues for therapy

V. Torres, P. Harris, 2006, Current opinion in nephrology and hypertension.

Identification of Biomarkers for PKD1 Using Urinary Exosomes.

Roman M. Ženka, J. Lieske, M. Irazabal, 2015, Journal of the American Society of Nephrology : JASN.

Deficiency of polycystin‐2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells

S. Somlo, F. Lanza, G. Aguiari, 2004, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

A large duplicated area in the polycystic kidney disease 1 (PKD1) region of chromosome 16 is prone to rearrangement.

R. Stallings, P. Ratcliffe, P. Harris, 1994, Genomics.

Baseline total kidney volume and the rate of kidney growth are associated with chronic kidney disease progression in Autosomal Dominant Polycystic Kidney Disease.

D. Landsittel, K. Bae, A. Chapman, 2017, Kidney international.

Prognostic Enrichment Design in Clinical Trials for Autosomal Dominant Polycystic Kidney Disease: The TEMPO 3:4 Clinical Trial

R. Gansevoort, A. Chapman, M. Irazabal, 2016, Kidney international reports.

Extracellular vesicles and exosomes generated from cystic renal epithelial cells promote cyst growth in autosomal dominant polycystic kidney disease

Junwei Yang, P. Harris, Xiaogang Li, 2021, Nature Communications.

Oxidative Stress and Mitochondrial Abnormalities Contribute to Decreased Endothelial Nitric Oxide Synthase Expression and Renal Disease Progression in Early Experimental Polycystic Kidney Disease

L. Lerman, M. Irazabal, V. Torres, 2020, International journal of molecular sciences.

Novel role for polycystin‐1 in modulating cell proliferation through calcium oscillations in kidney cells

G. Aguiari, L. del Senno, R. Rizzuto, 2008, Cell proliferation.

Characterization of Primary Cilia in Osteoblasts Isolated From Patients With ADPKD and CKD

M. Chonchol, Berenice Y. Gitomer, P. Harris, 2021, JBMR plus.

Polycystic Kidneys Have Decreased Vascular Density: A Micro‐CT Study

L. Lerman, P. Harris, John A. Crane, 2013, Microcirculation.

Up-regulation of DNA Damage Response Signaling in Autosomal Dominant Polycystic Kidney Disease.

D. Harris, G. Rangan, P. Harris, 2021, The American journal of pathology.

C. Férec, P. Harris, C. Charasse, 2017, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Risk Severity Model for Pediatric Autosomal Dominant Polycystic Kidney Disease Using 3D Ultrasound Volumetry

C. Van Ongeval, F. De Keyzer, M. Irazabal, 2023, American Society of Nephrology. Clinical Journal.

The genetic landscape of polycystic kidney disease in Ireland

G. Cavalleri, P. Harris, Sarah R. Senum, 2021, European Journal of Human Genetics.

A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease

F. Al-Mulla, P. Harris, J. L. Sundsbak, 2015, BMC Nephrology.

Presymptomatic Screening for Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease.

Robert D. Brown, M. Irazabal, V. Torres, 2019, Clinical journal of the American Society of Nephrology : CJASN.

Genetic analysis of Cuban autosomal dominant polycystic kidney disease kindreds using RFLPs and microsatellite polymorphisms linked to the PKD1 locus

F. Moreno, P. Harris, C. Ward, 1994, Human Genetics.

Determinants of Progression in Early Autosomal Dominant Polycystic Kidney Disease: Is it Blood Pressure or Renin-Angiotensin-Aldosterone-System Blockade?

Kaleab Z. Abebe, K. Bae, C. Moore, 2018, Current hypertension reviews.

PKD1 Compared to PKD2 Genotype and Cardiac Hospitalizations in the HALT-PKD Studies

Kaleab Z. Abebe, A. Chapman, M. Chonchol, 2021, Kidney International Reports.

PKD1 Compared With PKD2 Genotype and Cardiac Hospitalizations in the Halt Progression of Polycystic Kidney Disease Studies

Kaleab Z. Abebe, A. Chapman, M. Chonchol, 2021 .

Polycystin-1 regulates amphiregulin expression through CREB and AP1 signalling: implications in ADPKD cell proliferation

E. Magri, M. Pedriali, P. Querzoli, 2012, Journal of Molecular Medicine.

Autosomal dominant polycystic kidney disease: A genetic perspective

P. Harris, 1997 .

Clinical Implementation of an Artificial Intelligence Algorithm for Magnetic Resonance-Derived Measurement of Total Kidney Volume.

Marie E. Edwards, Adriana V. Gregory, D. Blezek, 2023, Mayo Clinic proceedings.

Semantic Instance Segmentation of Kidney Cysts in MR Images: A Fully Automated 3D Approach Developed Through Active Learning

Bradley J. Erickson, Timothy L. Kline, Vicente E. Torres, 2021, Journal of Digital Imaging.

Development of multiorgan pathology in the wpk rat model of polycystic kidney disease.

Vincent H Gattone, Carrie L Phillips, P. Harris, 2004, The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology.

Analysis of the polycystins in aortic vascular smooth muscle cells.

S. Somlo, V. Torres, P. Harris, 2003, Journal of the American Society of Nephrology : JASN.

Update on autosomal dominant polycystic kidney disease.

V. Torres, P. Harris, S. Rossetti, 2007, Minerva medica.

Relationship between caffeine intake and autosomal dominant polycystic kidney disease progression: a retrospective analysis using the CRISP cohort

D. Landsittel, K. Bae, A. Chapman, 2018, BMC Nephrology.

Patterns of Kidney Function Decline in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis From the HALT-PKD Trials.

Kaleab Z. Abebe, K. Bae, C. Moore, 2018, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Primary Hyperoxaluria Type 1

J. Lieske, P. Harris, D. Milliner, 1993 .

Pregnancy outcomes in autosomal dominant polycystic kidney disease: a case-control study

P. Harris, Diping Wang, W. White, 2016, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Polygenic risk affects the penetrance of monogenic kidney disease

G. Hripcsak, C. Weng, A. Gharavi, 2023, medRxiv.

Experimental Models of Polycystic Kidney Disease: Applications and Therapeutic Testing

P. Harris, Cynthia J. Sieben, 2023, Kidney360.

Genetic complexity in Joubert syndrome and related disorders.

P. Harris, 2007, Kidney international.

Construction of a map of chromosome 16 by using radiation hybrids.

H. Himmelbauer, G. Germino, G. Sutherland, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian 1 development and cystic kidney disease 2 3

P. Scambler, S. Walker-Samuel, A. Woolf, 2022 .

Haplotype analysis in autosomal dominant polycystic kidney disease.

P. Harris, P. Pignatelli, A. Frischauf, 1995, Journal of medical genetics.

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

B. Eckloff, V. Torres, P. Harris, 2012, Journal of the American Society of Nephrology : JASN.

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.

Marie E. Edwards, V. Tasic, A. Chapman, 2016, American journal of human genetics.

Determinants of renal disease variability in ADPKD.

P. Harris, S. Rossetti, 2010, Advances in chronic kidney disease.

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

S. Özen, A. Chapman, P. Lundquist, 2008, Kidney international.

Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials.

B. Erickson, K. Bae, A. Chapman, 2015, Journal of the American Society of Nephrology : JASN.

Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts

J. Lieske, D. Goldfarb, P. Harris, 2019, Pediatric Nephrology.

CD8+ T cells modulate autosomal dominant polycystic kidney disease progression

M. Miyazaki, M. Chonchol, E. Kleczko, 2018, Kidney international.

Food Restriction Ameliorates the Development of Polycystic Kidney Disease.

V. Torres, P. Harris, K. Hopp, 2016, Journal of the American Society of Nephrology : JASN.

University of Groningen Prognostic Enrichment Design in Clinical Trials for Autosomal Dominant Polycystic Kidney Disease Irazabal,

R. Gansevoort, A. Chapman, M. Irazabal, 2018 .

Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease.

N. LaRusso, Bohyun Kim, J. Glockner, 2010, Journal of the American Society of Nephrology : JASN.

Strategies targeting cAMP signaling in the treatment of polycystic kidney disease.

V. Torres, P. Harris, 2014, Journal of the American Society of Nephrology : JASN.

High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency

J. Lieske, V. Torres, P. Harris, 2021, Kidney international reports.