P. Pichurin

发表

Genomics Integration Into Nephrology Practice

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

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

Michael J Ackerman, Eric D Wieben, Gianrico Farrugia, 2016, Mayo Clinic proceedings.

The cysteine-rich amino terminus of the thyrotropin receptor is the immunodominant linear antibody epitope in mice immunized using naked deoxyribonucleic acid or adenovirus vectors.

John C. Morris, B. Rapoport, S. McLachlan, 2003, Endocrinology.

Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies

Gavin R. Oliver, E. Wieben, K. Clark, 2018, Journal of Clinical Immunology.

PMS2 monoallelic mutation carriers: the known unknown

Aung Ko Win, C. Boland, S. Thibodeau, 2015, Genetics in Medicine.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X-Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis

S. Gandomi, Sha Tang, P. Pichurin, 2014, Journal of Genetic Counseling.

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review

N. Lindor, I. Winship, J. Weitzel, 2014, Genetics in Medicine.

Peptide scanning for thyrotropin receptor T-cell epitopes in mice vaccinated with naked DNA.

B. Rapoport, S. McLachlan, H. Braley‐Mullen, 2002, Thyroid : official journal of the American Thyroid Association.

IFNγ production by NK cells from HLA-sensitized patients after in vitro exposure to allo-antigens.

S. Jordan, P. Pichurin, B. Shin, 2012, Transplant immunology.

Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection.

M. Hogan, M. El Ters, S. Erickson, 2021, Mayo Clinic proceedings.

Dendritic cells infected with adenovirus expressing the thyrotrophin receptor induce Graves’ hyperthyroidism in BALB/c mice

B. Rapoport, S. McLachlan, P. Pichurin, 2003, Clinical and experimental immunology.

Insight into antibody responses induced by plasmid or adenoviral vectors encoding thyroid peroxidase, a major thyroid autoantigen

B. Rapoport, S. McLachlan, P. Pichurin, 2003, Clinical and experimental immunology.

Evidence that the complement control protein-epidermal growth factor-like domain of thyroid peroxidase lies on the fringe of the immunodominant region recognized by autoantibodies.

B. Rapoport, S. McLachlan, P. Carayon, 2002, Thyroid : official journal of the American Thyroid Association.

Human monoclonal autoantibodies to B-cell epitopes outside the thyroid peroxidase autoantibody immunodominant region.

B. Rapoport, S. McLachlan, P. Pichurin, 2001, Thyroid : official journal of the American Thyroid Association.

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.

Thyrotrophin receptor‐specific memory T cell responses require normal B cells in a murine model of Graves’ disease

B. Rapoport, S. McLachlan, P. Pichurin, 2003, Clinical and experimental immunology.

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

Michael T. Zimmermann, M. Zimmermann, Z. Niu, 2017, Cold Spring Harbor molecular case studies.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

Immune Deviation Away from Th1 in Interferon-γ Knockout Mice Does Not Enhance TSH Receptor Antibody Production after Naked DNA Vaccination.

B. Rapoport, S. McLachlan, Chun-Rong Chen, 2002, Endocrinology.

Affinity-enrichment of thyrotropin receptor autoantibodies from Graves' patients and normal individuals provides insight into their properties and possible origin from natural antibodies.

B. Rapoport, S. McLachlan, Chun-Rong Chen, 2004, The Journal of clinical endocrinology and metabolism.

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium

Z. Cohen, B. Campbell, S. Gallinger, 2016, The American Journal of Gastroenterology.

"Hijacking" the thyrotropin receptor: A chimeric receptor-lysosome associated membrane protein enhances deoxyribonucleic acid vaccination and induces Graves' hyperthyroidism.

B. Rapoport, S. McLachlan, P. Pichurin, 2004, Endocrinology.

Naked TSH Receptor DNA Vaccination: A TH1 T Cell Response in Which Interferon-γ Production, Rather than Antibody, Dominates the Immune Response in Mice.

B. Rapoport, S. McLachlan, P. Pichurin, 2001, Endocrinology.

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

P. Blackburn, D. Babovic‐Vuksanovic, B. Lanpher, 2017, Molecular genetics and metabolism reports.

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

Elena B. Riel, M. Hurles, E. Carpenter, 2022, Nature Genetics.

Thyrotropin receptor knockout mice: studies on immunological tolerance to a major thyroid autoantigen.

T. Davies, R. Marians, B. Rapoport, 2004, Endocrinology.

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

J. Lupski, R. Gibbs, S. Jhangiani, 2022, American journal of human genetics.

Thyroglobulin-thyroperoxidase autoantibodies are polyreactive, not bispecific: analysis using human monoclonal autoantibodies.

B. Rapoport, S. McLachlan, P. Pichurin, 2003, The Journal of clinical endocrinology and metabolism.

Interactions between the mannose receptor and thyroid autoantigens

B. Rapoport, S. McLachlan, P. Pichurin, 2005, Clinical and experimental immunology.

The link between Graves' disease and Hashimoto's thyroiditis: a role for regulatory T cells.

A. Misharin, B. Rapoport, S. McLachlan, 2007, Endocrinology.

Ehlers Danlos syndrome and gastrointestinal manifestations: a 20‐year experience at Mayo Clinic

M. Camilleri, A. Acosta, D. Deyle, 2015, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.

Cytokines, IgG subclasses and costimulation in a mouse model of thyroid autoimmunity induced by injection of fibroblasts co‐expressing MHC class II and thyroid autoantigens

K. Tanaka, B. Rapoport, S. McLachlan, 2000, Clinical and experimental immunology.

A prion-like shift between two conformational forms of a recombinant thyrotropin receptor A-subunit module: purification and stabilization using chemical chaperones of the form reactive with Graves' autoantibodies.

B. Rapoport, S. McLachlan, P. Pichurin, 2001, The Journal of clinical endocrinology and metabolism.

Evidence that factors other than particular thyrotropin receptor T cell epitopes contribute to the development of hyperthyroidism in murine Graves’ disease

B. Rapoport, S. McLachlan, Chun-Rong Chen, 2004, Clinical and experimental immunology.

HLA-DR3 transgenic mice immunized with adenovirus encoding the thyrotropin receptor: T cell epitopes and functional analysis of the CD40 Graves' polymorphism.

B. Rapoport, S. McLachlan, C. David, 2006, Thyroid : official journal of the American Thyroid Association.

Adrenal Cortical Carcinoma Associated With Lynch Syndrome: A Case Report and Review of Literature

Ravinder J. Singh, Jolaine M. Hines, P. Pichurin, 2019, Journal of the Endocrine Society.

Naked deoxyribonucleic acid vaccination induces recognition of diverse thyroid peroxidase T cell epitopes.

B. Rapoport, S. McLachlan, P. Pichurin, 2004, Endocrinology.

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

K. Mills, S. Nasr, E. Klee, 2020, BMC Nephrology.

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

J. Clayton-Smith, P. Blackburn, F. Raymond, 2019, American journal of medical genetics. Part A.

The thyrotropin receptor autoantigen in Graves disease is the culprit as well as the victim.

Yuji Nagayama, B. Rapoport, S. McLachlan, 2003, The Journal of clinical investigation.

Thyroid-stimulating autoantibodies in Graves disease preferentially recognize the free A subunit, not the thyrotropin holoreceptor.

B. Rapoport, S. McLachlan, Chun-Rong Chen, 2002, The Journal of clinical investigation.

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

P. Meltzer, L. Coin, S. Davis, 2016, American journal of human genetics.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

J. Parisi, P. Blackburn, X. Ortiz-González, 2018, American journal of medical genetics. Part A.

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

P. Blackburn, D. Babovic‐Vuksanovic, G. Lomberk, 2018, Cold Spring Harbor molecular case studies.

Probing the genetic basis for thyrotropin receptor antibodies and hyperthyroidism in immunized CXB recombinant inbred mice.

Robert W. Williams, B. Rapoport, S. McLachlan, 2006, Endocrinology.

Targeted Expression of the Human Thyrotropin Receptor A-Subunit to the Mouse Thyroid: Insight into Overcoming the Lack of Response to A-Subunit Adenovirus Immunization1

B. Rapoport, S. McLachlan, Chun-Rong Chen, 2006, Journal of Immunology.

Immunization Lack of Response to A-Subunit Adenovirus Mouse Thyroid : Insight into Overcoming the Thyrotropin Receptor A-Subunit to the Targeted Expression of the Human and

B. Rapoport, S. McLachlan, Chun-Rong Chen, 2005 .

Thyrotropin receptor-DNA vaccination of transgenic mice expressing HLA-DR3 or HLA-DQ6b.

B. Rapoport, S. McLachlan, Chun-Rong Chen, 2003, Thyroid : official journal of the American Thyroid Association.

Low-dose immunization with adenovirus expressing the thyroid-stimulating hormone receptor A-subunit deviates the antibody response toward that of autoantibodies in human Graves' disease.

Yuji Nagayama, B. Rapoport, S. McLachlan, 2004, Endocrinology.

Susceptibility rather than resistance to hyperthyroidism is dominant in a thyrotropin receptor adenovirus-induced animal model of Graves' disease as revealed by BALB/c-C57BL/6 hybrid mice.

B. Rapoport, S. McLachlan, Chun-Rong Chen, 2004, Endocrinology.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2020, Nature Genetics.

Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

T. Stevens, J. Veltman, R. Rodenburg, 2020, Hepatology.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Impact of integrated translational research on clinical exome sequencing

Gavin R. Oliver, Tammy M. McAllister, M. Zimmermann, 2020, Genetics in Medicine.

Defective X-gating caused by de novo gain-of-function mutations in KCNK3 underlies a developmental disorder with sleep apnea

Elena B. Riel, M. Hurles, E. Carpenter, 2021, medRxiv.

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

W. Chung, P. Jayakar, M. Marble, 2021, Genetics in Medicine.

Relationship between thyroid peroxidase T cell epitope restriction and antibody recognition of the autoantibody immunodominant region in human leukocyte antigen DR3 transgenic mice.

B. Rapoport, S. McLachlan, Chun-Rong Chen, 2005, Endocrinology.

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.

A direct binding assay for thyrotropin receptor autoantibodies.

B. Rapoport, S. McLachlan, P. Pichurin, 1999, Thyroid : official journal of the American Thyroid Association.

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

Christina Lam, P. Rinaldo, D. Matern, 2021, JIMD reports.

Dissociation between iodide-induced thyroiditis and antibody-mediated hyperthyroidism in NOD.H-2h4 mice.

B. Rapoport, S. McLachlan, Chun-Rong Chen, 2005, Endocrinology.

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review

N. Lindor, I. Winship, Marissa S. Ellingson, 2014, Genetics in Medicine.

Pregnancy in an individual with mild Smith–Lemli–Opitz syndrome

D. Babovic‐Vuksanovic, A. Saenger, F. Porter, 2014, Clinical genetics.

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

C. Ober, Soma Das, D. Waggoner, 2017, Case reports in genetics.

Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies

Gavin R. Oliver, E. Wieben, K. Clark, 2018, Journal of Clinical Immunology.

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

K. Clark, K. Wierenga, K. Martemyanov, 2020, Molecular genetics & genomic medicine.

Genetic testing helps to confirm the diagnosis and initiate appropriate treatment, a case of Liddle syndrome.

P. Pichurin, G. Schwartz, 2017, Journal of the American Society of Hypertension : JASH.

Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO

J. Rosenfeld, M. Patterson, Yaping Yang, 2019, American journal of medical genetics. Part A.

Shared and unique susceptibility genes in a mouse model of Graves' disease determined in BXH and CXB recombinant inbred mice.

Robert W. Williams, B. Rapoport, S. McLachlan, 2008, Endocrinology.

18th annual meeting: Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC)

B. Campbell, S. Gallinger, M. Kalady, 2014, Familial Cancer.

Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome.

A. Folpe, J. Pulido, R. Spinner, 2018, World neurosurgery.

Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype.

Y. Kudva, E. Klee, T. Kruisselbrink, 2019, Clinical immunology.

Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa.

Michael T. Zimmermann, Nikita R. Dsouza, M. Zimmermann, 2020, Thrombosis research.

Belzutifan in adults with VHL-associated central nervous system hemangioblastoma: a single-center experience

J. Uhm, P. Pichurin, B. Neth, 2023, Journal of Neuro-Oncology.

Evidence for Brainstem Motor Nondecussation as a Neurologic Substrate for Periodic Alternating Gaze Deviation.

M. Brodsky, Mai‐Lan Ho, S. Kotagal, 2017, Ophthalmology.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

R. Gavrilova, P. Pichurin, Mohammad Almeqdadi, 2018, The American journal of case reports.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2021, Nature Genetics.