Publications by authors named "Petr Vyletal"

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Long-Read Sequencing of the VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression.
Alena Vrbacká, Anna Přistoupilová, Kendrah O Kidd, Václav Janoušek, Martin Radina

bioRxiv· September 2025

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Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.
Martina Živná, Gabriela Dostálová, Veronika Barešová, Dita Mušálková, Klára Svojšová

J Am Soc Nephrol· April 2025

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Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.
Kendrah O Kidd, Adrienne H Williams, Abbigail Taylor, Lauren Martin, Victoria Robins

BMC Nephrol· December 2024

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Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations: An Observational Study.
Kendrah O Kidd, Adrienne H Williams, Abbigail Taylor, Lauren Martin, Victoria Robins

medRxiv· July 2024

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A Novel Monoallelic Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.
Elhussein A E Elhassan, Tereza Kmochová, Katherine A Benson, Neil K Fennelly, Veronika Barešová

Kidney Int Rep· July 2024

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Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Tereza Kmochová, Kendrah O Kidd, Andrew Orr, Aleš Hnízda, Hana Hartmannová

Kidney Int· April 2024

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Bi-allelic Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD.
Sofia Jorge, Kendrah Kidd, Petr Vylet'al, Estela Nogueira, Lauren Martin

Kidney Int Rep· May 2023

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Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.
Mark Sicking, Martina Živná, Pratiti Bhadra, Veronika Barešová, Andrea Tirincsi

Life Sci Alliance· April 2022

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Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.
Petr Vylet'al, Kendrah Kidd, Hannah C Ainsworth, Drahomíra Springer, Alena Vrbacká

Am J Nephrol· January 2022

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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Martina Živná, Kendrah Kidd, Mohamad Zaidan, Petr Vyleťal, Veronika Barešová

Kidney Int· December 2020

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Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to Mutations.
Kendrah Kidd, Petr Vylet'al, Céline Schaeffer, Eric Olinger, Martina Živná

Kidney Int Rep· September 2020

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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Ivana Jedličková, Maxime Cadieux-Dion, Anna Přistoupilová, Viktor Stránecký, Hana Hartmannová

Eur J Hum Genet· June 2020

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Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases.
Anthony J Bleyer, Kendrah Kidd, Victoria Robins, Lauren Martin, Abbigail Taylor

Genet Med· January 2020

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Quality of life in patients with autosomal dominant tubulointerstitial kidney disease
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Anthony J Bleyer, Kendrah Kidd, Emily Johnson, Victoria Robins, Lauren Martin

Clin Nephrol· December 2019

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Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
Martina Živná, Kendrah Kidd, Anna Přistoupilová, Veronika Barešová, Mathew DeFelice

J Am Soc Nephrol· September 2018

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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Nikhita Ajit Bolar, Christelle Golzio, Martina Živná, Gaëlle Hayot, Christine Van Hemelrijk

Am J Hum Genet· July 2016

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Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.
Anthony J Bleyer, Stanislav Kmoch, Corinne Antignac, Vicki Robins, Kendrah Kidd

Clin J Am Soc Nephrol· March 2014

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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Andrew Kirby, Andreas Gnirke, David B Jaffe, Veronika Barešová, Nathalie Pochet

Nat Genet· March 2013

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Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.
Blanka Stiburkova, Jakub Krijt, Petr Vyletal, Josef Bartl, Eva Gerhatova

Clin Chim Acta· January 2012

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Uromodulin biology and pathophysiology--an update.
Petr Vyletal, Anthony J Bleyer, Stanislav Kmoch

Kidney Blood Press Res· November 2011

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Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
Martina Zivná, Helena Hůlková, Marie Matignon, Katerina Hodanová, Petr Vylet'al

Am J Hum Genet· August 2009

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Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Petr Vyletal, Jitka Sokolová, David N Cooper, Jan P Kraus, Michael Krawczak

Hum Mutat· March 2007

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Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.
Katerina Hodanová, Jacek Majewski, Martina Kublová, Petr Vyletal, Marie Kalbácová

Kidney Int· October 2005

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Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.
Blanka Stibůrková, Jacek Majewski, Katerina Hodanová, Lenka Ondrová, Markéta Jerábková

Eur J Hum Genet· February 2003

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