S. Somlo

发表

Genetics and pathogenesis of polycystic kidney disease.

P. Igarashi, S. Somlo, 2002, Journal of the American Society of Nephrology : JASN.

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

G. Page, G. Germino, S. Somlo, 2005, Journal of Medical Genetics.

PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein

Patricia A. Gabow, William J. Kimberling, Martijn H. Breuning, 1996, Science.

Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2).

S. Somlo, T. Mochizuki, Tomohito Hayashi, 1997, Genomics.

Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease

S. Somlo, V. Torres, P. Harris, 2004, Nature Medicine.

Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1.

L. Cantley, A. Louvi, P. Igarashi, 2008, Human molecular genetics.

Triptolide reduces cystogenesis in a model of ADPKD.

P. Igarashi, S. Somlo, S. Leuenroth, 2008, Journal of the American Society of Nephrology : JASN.

Small-molecule CFTR inhibitors slow cyst growth in polycystic kidney disease.

A S Verkman, A. Verkman, S. Somlo, 2008, Journal of the American Society of Nephrology : JASN.

Effect of calcium-sensing receptor activation in models of autosomal recessive or dominant polycystic kidney disease

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

Chemical modifier screen identifies HDAC inhibitors as suppressors of PKD models

Ying Cao, Paolo Emilio Barbano, P. Barbano, 2009, Proceedings of the National Academy of Sciences.

ERK1/2-dependent vascular endothelial growth factor signaling sustains cyst growth in polycystin-2 defective mice.

S. Somlo, C. Spirlí, S. Okolicsanyi, 2010, Gastroenterology.

Mammalian target of rapamycin regulates vascular endothelial growth factor–dependent liver cyst growth in polycystin‐2–defective mice

S. Somlo, C. Spirlí, S. Okolicsanyi, 2010, Hepatology.

Activating AMP-activated protein kinase (AMPK) slows renal cystogenesis

S. Somlo, S. Somlo, Hui Li, 2011, Proceedings of the National Academy of Sciences.

Polycystic kidney disease genes and polycystins

S. Somlo, 1998, Clinical and Experimental Nephrology.

Loss of polycystin-1 causes centrosome amplification and genomic instability.

Cristina Montagna, S. Somlo, S. Macip, 2008, Human molecular genetics.

Double inhibition of cAMP and mTOR signalling may potentiate the reduction of cell growth in ADPKD cells

S. Somlo, R. Gafà, G. Lanza, 2017, Clinical and Experimental Nephrology.

miR-17∼92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease

P. Igarashi, S. Somlo, M. Pontoglio, 2013, Proceedings of the National Academy of Sciences.

Two Populations of Node Monocilia Initiate Left-Right Asymmetry in the Mouse

M. Brueckner, S. Somlo, X. Tian, 2003, Cell.

DCDC2 is associated with reading disability and modulates neuronal development in the brain.

P. Skudlarski, B. Pennington, B. Shaywitz, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells.

S. Somlo, G. Aguiari, L. del Senno, 1999, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Molecular advances in autosomal dominant polycystic kidney disease.

G. Germino, S. Somlo, A. Gallagher, 2010, Advances in chronic kidney disease.

Loss of oriented cell division does not initiate cyst formation.

P. Igarashi, S. Somlo, Zhiheng Yu, 2010, Journal of the American Society of Nephrology : JASN.

P. Skudlarski, B. Pennington, B. Shaywitz, 2005 .

mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex

S. Somlo, A. Boletta, F. Qian, 2016, Nature Communications.

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.

Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease

G. Pazour, P. Igarashi, S. Somlo, 2013, Nature Genetics.

The γ-secretase cleavage product of polycystin-1 regulates TCF and CHOP-mediated transcriptional activation through a p300-dependent mechanism.

J. Baggs, J. Hogenesch, S. Somlo, 2012, Developmental cell.

Polycystin-1 C-terminal Cleavage Is Modulated by Polycystin-2 Expression*

S. Somlo, Yiqiang Cai, M. Caplan, 2009, The Journal of Biological Chemistry.

Polycystin-1 Distribution Is Modulated by Polycystin-2 Expression in Mammalian Cells*

E. Avner, S. Somlo, Yiqiang Cai, 2003, Journal of Biological Chemistry.

Doxycycline accelerates renal cyst growth and fibrosis in the pcy/pcy mouse model of type 3 nephronophthisis, a form of recessive polycystic kidney disease

H. Omran, S. Somlo, R. Witzgall, 2009, Histochemistry and Cell Biology.

The pathogenesis of autosomal dominant polycystic kidney disease: an update.

S. Somlo, G. Markowitz, 2000, Current opinion in nephrology and hypertension.

In Vivo Interaction of the Adapter Protein CD2-associated Protein with the Type 2 Polycystic Kidney Disease Protein, Polycystin-2*

M. Zerial, S. Somlo, V. Olkkonen, 2000, The Journal of Biological Chemistry.

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

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

A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2).

S. Somlo, T. Mochizuki, S. Xenophontos, 1997, Human molecular genetics.

Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif

S. Somlo, Zhiheng Yu, Yiqiang Cai, 2006, Journal of Cell Science.

Positional cloning approach to the dominant polycystic kidney disease gene, PKD1.

G. Germino, S. Somlo, S. Reeders, 1993, Kidney international. Supplement.

Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts.

S. Somlo, X. Tian, Zhaoxia Sun, 2016, Journal of the American Society of Nephrology : JASN.

Polycystin-2-dependent control of cardiomyocyte autophagy.

Herman I. May, E. Morselli, A. Criollo, 2018, Journal of molecular and cellular cardiology.

The kidney research national dialogue: gearing up to move forward.

B. Freedman, S. Somlo, J. Bonventre, 2014, Clinical journal of the American Society of Nephrology : CJASN.

Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice.

P. Igarashi, S. Somlo, X. Tian, 2004, The Journal of clinical investigation.

Epithelial-specific Cre/lox recombination in the developing kidney and genitourinary tract.

P. Igarashi, S. Somlo, X. Shao, 2002, Journal of the American Society of Nephrology : JASN.

Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers.

G. A. Gillespie, H. Himmelbauer, B. Wirth, 1992, Genomics.

Autosomal Dominant Polycystic Liver Disease

S. Somlo, V. Torres, Q. Qian, 2010 .

Genetics and Pathogenesis of Polycystic Kidney Disease

P. Igarashi, S. Somlo, Stefan Somlo, 2002 .

N-Glycosylation Determines the Abundance of the Transient Receptor Potential Channel TRPP2*

S. Somlo, M. Köttgen, Alexis Hofherr, 2014, The Journal of Biological Chemistry.

The diagnosis and prognosis of autosomal dominant polycystic kidney disease.

M. H. Gault, D. Churchill, P. Parfrey, 1990, The New England journal of medicine.

Spliced XBP1 Rescues Renal Interstitial Inflammation Due to Loss of Sec63 in Collecting Ducts.

S. Somlo, Ann-Hwee Lee, A. Marlier, 2019, Journal of the American Society of Nephrology : JASN.

Renal plasticity revealed through reversal of polycystic kidney disease in mice

F. Hyder, D. Coman, K. Dong, 2021, Nature Genetics.

Genomic Analysis to Avoid Misdiagnosis of Adults With Bilateral Renal Cysts

K. Bae, S. Somlo, T. Watnick, 2018, Annals of Internal Medicine.

Too much of a good thing: does Nek8 link polycystic kidney disease and nephronophthisis?

S. Somlo, Yiqiang Cai, 2008, Journal of the American Society of Nephrology : JASN.

Phosphoinositide 3-Kinase-C2α Regulates Polycystin-2 Ciliary Entry and Protects against Kidney Cyst Formation.

G. Merlo, S. Somlo, E. Hirsch, 2016, Journal of the American Society of Nephrology : JASN.

Sec63 and Xbp1 regulate IRE1α activity and polycystic disease severity.

S. Somlo, Seung Hun Lee, Ann-Hwee Lee, 2015, The Journal of clinical investigation.

Polycystin-1: a master regulator of intersecting cystic pathways.

S. Somlo, A. Gallagher, Sorin V. Fedeles, 2014, Trends in molecular medicine.

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.

Macrophages promote cyst growth in polycystic kidney disease.

L. Cantley, S. Somlo, A. Karihaloo, 2011, Journal of the American Society of Nephrology : JASN.

Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1.

D. Jain, S. Somlo, L. Onuchic, 2008, The American journal of pathology.

An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region.

E. Avner, K. Zerres, G. Germino, 1997, Genomics.

Loss of Cilia Does Not Slow Liver Disease Progression in Mouse Models of Autosomal Recessive Polycystic Kidney Disease.

S. Somlo, A. Gallagher, 2020, Kidney360.

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.

E. Avner, R. Salonen, P. Heikkilä, 1998, American journal of medical genetics.

Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene

E. Avner, M. Dixit, K. Zerres, 1999, Mammalian Genome.

Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease

E. Avner, Y. Hofmann, K. Zerres, 2000, European Journal of Human Genetics.

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

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

Mcp1 Promotes Macrophage-Dependent Cyst Expansion in Autosomal Dominant Polycystic Kidney Disease.

L. Cantley, S. Somlo, Richard Torres, 2018, Journal of the American Society of Nephrology : JASN.

Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

S. Somlo, D. Reynolds, D. Bichet, 1996, Pediatric Nephrology.

[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 cloning, cDNA sequence analysis, and chromosomal localization of mouse Pkd2.

S. Somlo, T. Mochizuki, D. Reynolds, 1997, Genomics.

Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.

Hongyu Zhao, V. D’Agati, S. Somlo, 2002, Human molecular genetics.

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.

P. Kamath, S. Somlo, V. Torres, 2003, American journal of human genetics.

Polycystin-2 Activation by Inositol 1,4,5-Trisphosphate-induced Ca2+ Release Requires Its Direct Association with the Inositol 1,4,5-Trisphosphate Receptor in a Signaling Microdomain*

S. Somlo, D. Mekahli, Yiqiang Cai, 2010, The Journal of Biological Chemistry.

An Update on Ductal Plate Malformations and Fibropolycystic Diseases of the Liver.

D. Jain, S. Somlo, H. Mirza, 2022, Human pathology.

Channel TRPP 2 of the Transient Receptor Potential-Glycosylation Determines the Abundance N Molecular Bases of Disease :

S. Somlo, M. Köttgen, Alexis Hofherr, 2014 .

Clinical profile of autosomal dominant polycystic liver disease

P. Kamath, S. Somlo, V. Torres, 2003, Hepatology.

Altered trafficking and stability of polycystins underlie polycystic kidney disease.

S. Somlo, Yiqiang Cai, X. Tian, 2014, The Journal of clinical investigation.

Getting a foothold in nephrotic syndrome

S. Somlo, P. Mundel, 2000, Nature Genetics.

Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63

S. Somlo, H. Venselaar, E. Waanders, 2010, Clinical genetics.

Cell-Autonomous Hedgehog Signaling Is Not Required for Cyst Formation in Autosomal Dominant Polycystic Kidney Disease.

K. Liem, S. Somlo, X. Tian, 2019, Journal of the American Society of Nephrology : JASN.

TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation.

S. Somlo, G. Danovitch, Neera K. Dahl, 2018, American journal of kidney diseases : the official journal of the National Kidney Foundation.

AFLUID July 46/1

V. D’Agati, S. Somlo, Yiqiang Cai, 1999 .

A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene.

A. Paterson, P. S. St George-Hyslop, S. Somlo, 1998, 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.

Glutamine metabolism via glutaminase 1 in autosomal-dominant polycystic kidney disease

Ying Sun, S. Somlo, G. Hatzivassiliou, 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Essential Role of X-Box Binding Protein-1 during Endoplasmic Reticulum Stress in Podocytes.

S. Somlo, S. Ishibe, Xuefei Tian, 2016, Journal of the American Society of Nephrology : JASN.

Kidney injury molecule-1 expression in murine polycystic kidney disease.

S. Somlo, K. Park, J. Bonventre, 2002, American journal of physiology. Renal physiology.

Advancing Nephrology: Division Leaders Advise ASN.

D. Salant, P. Igarashi, S. Somlo, 2020, Clinical journal of the American Society of Nephrology : CJASN.

Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells

S. Somlo, L. Edelmann, E. Krause, 2012, Journal of Cell Science.

Kidney Injury Molecule-1 ( Kim-1 ) expression in murine polycystic kidney disease

S. Somlo, K. Park, J. Bonventre, 2002 .

Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25.

S. Somlo, D. Reynolds, T. Hayashi, 1998, Genomics.

A transducin-like gene maps to the autosomal dominant polycystic kidney disease gene region.

G. Germino, S. Somlo, S. Reeders, 1993, Genomics.

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.

Syntaxin 5 regulates the endoplasmic reticulum channel-release properties of polycystin-2

S. Somlo, Zhiheng Yu, B. Ehrlich, 2008, Proceedings of the National Academy of Sciences.

Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease.

S. Somlo, S. Roy, A. Gallagher, 2020, Kidney360.

Cyclin-Dependent Kinase 1 Activity Is a Driver of Cyst Growth in Polycystic Kidney Disease.

Y. Kluger, S. Somlo, Jun Zhao, 2020, Journal of the American Society of Nephrology : JASN.

AFLUID Decemer 46/6

S. Somlo, N. Gassler, R. Witzgall, 1999 .

T-Cell Factor/ β -Catenin Activity is Suppressed Normally in Two Independent Models of Autosomal Dominant Polycystic Kidney Disease

G. Germino, S. Somlo, D. Iglesias, 2014 .

Nerve growth cones isolated from fetal rat brain: Subcellular fractionation and characterization

S. Somlo, K. Pfenninger, L. Ellis, 1983, Cell.

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

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

Calcium Dependence of Polycystin-2 Channel Activity Is Modulated by Phosphorylation at Ser812*

S. Somlo, Zhiheng Yu, Yiqiang Cai, 2004, Journal of Biological Chemistry.

Polycystin-2 is an intracellular calcium release channel

S. Somlo, P. Koulen, R. Witzgall, 2002, Nature Cell Biology.

A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation

Lin Geng, S. Somlo, Yiqiang Cai, 2011, Nature Genetics.

The rat Pkd2 protein assumes distinct subcellular distributions in different organs.

N. Gretz, S. Somlo, N. Gassler, 1999, American journal of physiology. Renal physiology.

Mutations in SEC63 cause autosomal dominant polycystic liver disease

P. Kamath, R. Lifton, S. Somlo, 2004, Nature Genetics.

Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23.

P. Gabow, W. Kimberling, S. Somlo, 1993, Genomics.

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

E. Avner, Z. Ren, K. Zerres, 2002, American journal of human genetics.

Signal transduction: Mating, channels and kidney cysts

S. W. Emmons, S. Somlo, 1999, Nature.

Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology

S. Somlo, A. Gulati, 2018, Pediatric Nephrology.

Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1).

H. Himmelbauer, G. Germino, S. Somlo, 1992, Genomics.

Kidney: Hereditary Disorders

S. Somlo, E. Esquivel, 2006 .

Adenylyl cyclase 5 deficiency reduces renal cyclic AMP and cyst growth in an orthologous mouse model of polycystic kidney disease.

P. Igarashi, S. Somlo, P. Han, 2017, Kidney international.

Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1.

C. Falk, P. Kamath, S. Somlo, 2000, American journal of human genetics.

Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease.

S. Somlo, A. Gallagher, Ming Ma, 2017, Cold Spring Harbor perspectives in biology.

Vascular expression of polycystin-2.

X. Chen, S. Somlo, V. Torres, 1997, Journal of the American Society of Nephrology : JASN.

The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton.

N. Gretz, S. Somlo, R. Witzgall, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Identification and Characterization of Polycystin-2, the PKD2 Gene Product*

S. Somlo, R. Witzgall, V. Torres, 1999, The Journal of Biological Chemistry.

Polycystin-2 expression is developmentally regulated.

V. D’Agati, S. Somlo, Guan-qing Wu, 1999, The American journal of physiology.

Chapter 80 – Autosomal Dominant Polycystic Kidney Disease

S. Somlo, V. Torres, M. Caplan, 2013 .

Chapter 24 – Polycystic Kidney Disease

S. Somlo, L. Guay-Woodford, 2009 .

CHAPTER 81 – Autosomal Dominant Polycystic Kidney Disease and Inherited Cystic Diseases

S. Somlo, V. Torres, M. Caplan, 2008 .

Polycystic kidney disease.

P. Igarashi, S. Somlo, 2007, Journal of the American Society of Nephrology : JASN.

Triptolide is a traditional Chinese medicine-derived inhibitor of polycystic kidney disease

S. Somlo, Zhiheng Yu, S. Leuenroth, 2007, Proceedings of the National Academy of Sciences.

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.

Cardiac defects and renal failure in mice with targeted mutations in Pkd2

Lin Geng, Raju Kucherlapati, Li Li, 2000, Nature Genetics.

PKD1 interacts with PKD2 through a probable coiled-coil domain

G. Germino, S. Somlo, Yiqiang Cai, 1997, Nature Genetics.

Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease

L. Goldstein, P. Igarashi, S. Somlo, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Isolated polycystic liver disease genes define effectors of polycystin-1 function.

S. Mane, Murim Choi, R. Lifton, 2017, The Journal of clinical investigation.

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

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

ALG9 Mutation Carriers Develop Kidney and Liver Cysts.

Dustin N. Hartzel, S. Mane, S. Somlo, 2019, Journal of the American Society of Nephrology : JASN.

Isolated polycystic liver disease genes define effectors of polycystin-1 function

S. Mane, Murim Choi, R. Lifton, 2017, The Journal of clinical investigation.

A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family

S. Mane, S. Somlo, S. Sanna-Cherchi, 2018, Human mutation.

A kindred exhibiting cosegregation of an overlap connective tissue disorder and the chromosome 16 linked form of autosomal dominant polycystic kidney disease.

S. Somlo, S. Reeders, F. Whittier, 1993, Journal of the American Society of Nephrology : JASN.

The N-terminal Extracellular Domain Is Required for Polycystin-1-dependent Channel Activity*

O. Ibraghimov-Beskrovnaya, S. Somlo, Yiqiang Cai, 2004, Journal of Biological Chemistry.

CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel.

G. A. Gillespie, G. Germino, S. Somlo, 1991, Proceedings of the National Academy of Sciences of the United States of America.

A positional cloning approach to inherited renal disease.

G. Germino, S. Somlo, 1992, Seminars in nephrology.

Human disease: Calcium signaling in polycystic kidney disease

S. Somlo, B. Ehrlich, 2001, Current Biology.

Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease

R. Kucherlapati, V. D’Agati, S. Somlo, 1998, Cell.

Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.

A. Paterson, P. S. St George-Hyslop, P. Parfrey, 2001, American journal of human genetics.

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm.

M. L. Watkins, G. Germino, S. Somlo, 2004, Kidney international.

Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.

Carsten Bergmann, Klaus Zerres, Ali Gharavi, 2003, Journal of the American Society of Nephrology : JASN.

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene.

E. Avner, Z. Ren, K. Zerres, 2002, Journal of the American Society of Nephrology : JASN.

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Carsten Bergmann, Sabine Rudnik-Schöneborn, Klaus Zerres, 2003, Journal of the American Society of Nephrology : JASN.

T-cell factor/β-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease.

G. Germino, S. Somlo, D. Iglesias, 2011, Kidney international.

Histopathological analysis of renal cystic epithelia in the Pkd2WS25/- mouse model of ADPKD.

S. Somlo, E. Delpire, P. Aronson, 2003, American journal of physiology. Renal physiology.

Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia.

P. Igarashi, S. Somlo, Ling Li, 2008, Human molecular genetics.

Opening of ligand‐gated cation channel families by calpain inhibitors 1

S. Somlo, T. Mochizuki, K. Ishibashi, 2002, FEBS letters.

The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region.

G. A. Gillespie, H. Himmelbauer, B. Wirth, 1992, Genomics.

Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.

S. Somlo, G. Wu, Guanqing Wu, 2000, Molecular genetics and metabolism.

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.

E. Avner, R. Salonen, P. Heikkilä, 1998, American journal of medical genetics.

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

R. Fossdal, E. Coto, S. Somlo, 1997, American journal of human genetics.

Small‐Molecule CFTR Inhibitors Slow CYST Growth in Culture and Mouse Models of Polycystic Kidney Disease

A. Verkman, S. Somlo, Baoxue Yang, 2008 .

Filling the holes in cystic kidney disease research.

R. Rasooly, E. Henske, P. Igarashi, 2014, Clinical journal of the American Society of Nephrology : CJASN.

Polycystic liver diseases: congenital disorders of cholangiocyte signaling.

S. Somlo, M. Strazzabosco, 2011, Gastroenterology.

Regulation of ryanodine receptor-dependent calcium signaling by polycystin-2

S. Somlo, B. Ehrlich, M. Estrada, 2007, Proceedings of the National Academy of Sciences.

Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease

P. Igarashi, S. Somlo, Leighton R. James, 2008, Pediatric Nephrology.

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene.

E. Avner, K. Zerres, G. Germino, 2002, American journal of medical genetics.

Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.

E. Avner, K. Zerres, S. Rudnik-Schöneborn, 1998, Genomics.

The Polycystin 1-C-terminal Fragment Stimulates ERK-dependent Spreading of Renal Epithelial Cells*

L. Cantley, S. Somlo, Zhiheng Yu, 2006, Journal of Biological Chemistry.

Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases

P. Igarashi, S. Somlo, M. Pontoglio, 2011, Proceedings of the National Academy of Sciences.

Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus.

O. Ibraghimov-Beskrovnaya, P. Igarashi, S. Somlo, 2004, The Journal of clinical investigation.

Steviol retards renal cyst growth through reduction of CFTR expression and inhibition of epithelial cell proliferation in a mouse model of polycystic kidney disease (690.2)

S. Somlo, V. Chatsudthipong, A. Gallagher, 2014, Biochemical pharmacology.

The polycystins are modulated by cellular oxygen-sensing pathways and regulate mitochondrial function

S. Somlo, A. Boletta, M. Caplan, 2017, Molecular biology of the cell.

The imperative to invest in science has never been greater.

L. Fried, S. Lemon, C. Sawyers, 2014, The Journal of clinical investigation.

Evidence for a third genetic locus for autosomal dominant polycystic kidney disease.

S. Somlo, D. Reynolds, D. Bichet, 1995 .

Polycystin-1 Is a Cardiomyocyte Mechanosensor That Governs L-Type Ca2+ Channel Protein Stability

A. Criollo, S. Somlo, M. Caplan, 2015, Circulation.

Interdependent Regulation of Polycystin Expression Influences Starvation-Induced Autophagy and Cell Death

S. Somlo, D. Mekahli, Yiqiang Cai, 2021, International Journal of Molecular Sciences.

Neutrophil gelatinase-associated lipocalin suppresses cyst growth by Pkd1 null cells in vitro and in vivo.

L. Cantley, S. Somlo, V. Sukhatme, 2008, Kidney international.

Polycystin-2 Regulates Proliferation and Branching Morphogenesis in Kidney Epithelial Cells*

L. Cantley, S. Somlo, Yiqiang Cai, 2006, Journal of Biological Chemistry.

Ganetespib limits ciliation and cystogenesis in autosomal‐dominant polycystic kidney disease (ADPKD)

S. Somlo, A. Gaponova, A. Nikonova, 2018, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Erratum: Glutamine metabolism via glutaminase 1 in autosomal-dominant polycystic kidney disease (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (2018) 33 8 (1343-1353))

S. Somlo, G. Hatzivassiliou, A. Kimmelman, 2020 .

The C-terminal tail of polycystin-1 suppresses cystic disease in a mitochondrial enzyme-dependent fashion

Hongying Shen, S. Somlo, M. Caplan, 2021, bioRxiv.

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.

Mechanoprotection by Polycystins Against Apoptosis is Mediated Through the Opening of Stretch‐Activated K2P Channels

R. Peyronnet, S. Somlo, F. Sachs, 2012, Cell reports.

Literature Abstract

S. Somlo, 2001, Pediatric Nephrology.

Evaluation of urine biomarkers of kidney injury in Polycystic Kidney Disease

S. Somlo, A. Chapman, C. Edelstein, 2012, Kidney international.

A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts

S. Somlo, R. Witzgall, M. G. Madej, 2021, Journal of cell science.

Restoration of proximal tubule flow–activated transport prevents cyst growth in polycystic kidney disease

S. Somlo, X. Tian, A. Weinstein, 2021, JCI insight.

Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes.

S. Somlo, X. Tian, Airong Li, 2003, Genomics.

Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease

S. Somlo, Erum A. Hartung, Stephanie L. Clark, 2023, Kidney360.

Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD

S. Somlo, E. Gutiérrez, Á. Sevillano, 2019, Kidney international reports.

Cyst growth, polycystins, and primary cilia in autosomal dominant polycystic kidney disease

S. Somlo, Seung Hun Lee, 2014, Kidney research and clinical practice.

Trans-heterozygous Pkd 1 and Pkd 2 mutations modify expression of polycystic kidney disease

Hongyu Zhao, V. D’Agati, S. Somlo, 2002 .

A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.

A. Paterson, P. S. St George-Hyslop, P. Parfrey, 1998, Journal of the American Society of Nephrology : JASN.

Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.

R. Fossdal, E. Coto, G. Germino, 1999, Journal of the American Society of Nephrology : JASN.

Polycystin-2 expression is developmentally regulated

V. D’Agati, S. Somlo, Guan-qing Wu, 1999 .

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.

Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases.

N. Gretz, S. Somlo, R. Witzgall, 2002, Journal of the American Society of Nephrology : JASN.

Cloning and characterization of the murine pkd2 promoter.

C. Rubin, S. Somlo, T. Hayashi, 2000, Genomics.

Human polycystin-2 transgene dose-dependently rescues ADPKD phenotypes in Pkd2 mutant mice.

Xiao-li Zhang, S. Somlo, Dianqing Wu, 2015, The American journal of pathology.

Erratum: Isolated polycystic liver disease genes define effectors of polycystin-1 function (The Journal of clinical investigation (2017) 127 5 (1772-1785) PII: 96729)

S. Mane, Murim Choi, R. Lifton, 2017 .

Polycystin-1 is a Cardiomyocyte Mechanosensor That Governs L-type Ca 2 + Channel Protein Stability Running title : Pedrozo et al . ; PC1-dependent mechanotransduction in heart

A. Criollo, S. Somlo, M. Caplan, 2015 .

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.

Cosmid walking and chromosome jumping in the region of PKD1 reveal a locus duplication and three CpG islands.

G. A. Gillespie, G. Germino, S. Somlo, 1990, Nucleic acids research.

A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6.

A. N. Goncharuk, E. Avner, K. Zerres, 1999, Genomics.

Genetic Diseases of the Kidney

G. Giebisch, R. Lifton, S. Somlo, 2009 .

XBP1 Activation Reduces Severity of Polycystic Kidney Disease due to a Nontruncating Polycystin-1 Mutation in Mice

S. Somlo, Yiqiang Cai, Rishi Bhardwaj, 2022, Journal of the American Society of Nephrology : JASN.

Genetics and Pathogenesis of Polycystic Kidney Disease

P. Igarashi, S. Somlo, 2002 .

Genetics and Pathogenesis of Polycystic Kidney Disease

P. Igarashi, S. Somlo, Stefan Somlo, 2002 .

Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease

S. Somlo, V. Torres, Jungmin Choi, 2020, Kidney international reports.

Polycystin-1: a master regulator of intersecting cystic pathways.

S. Somlo, A. Gallagher, S. Fedeles, 2014, Trends in molecular medicine.

Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases.

N. Gretz, S. Somlo, R. Witzgall, 2002, Journal of the American Society of Nephrology : JASN.

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.

The γ-secretase cleavage product of polycystin-1 regulates TCF and CHOP-mediated transcriptional activation through a p300-dependent mechanism.

J. Baggs, J. Hogenesch, S. Somlo, 2012, Developmental cell.

Mutation of hepatocyte nuclear factor–1β inhibits Pkhd1 gene expression and produces renal cysts in mice

P. Igarashi, S. Somlo, X. Tian, 2004 .

Adenylyl cyclase 5 deficiency reduces renal cyclic AMP and cyst growth in an orthologous mouse model of polycystic kidney disease.

P. Igarashi, S. Somlo, P. Han, 2017, Kidney international.

Altered trafficking and stability of polycystins underlie polycystic kidney disease.

S. Somlo, Yiqiang Cai, X. Tian, 2014, The Journal of clinical investigation.

Polycystin-2 expression is developmentally regulated.

V. D’Agati, S. Somlo, Guan-qing Wu, 1999, American journal of physiology. Renal physiology.

Polycystin-2-dependent control of cardiomyocyte autophagy.

Herman I. May, E. Morselli, A. Criollo, 2018, Journal of molecular and cellular cardiology.