Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Kateřina, Hodaňová"'
Autor:
Sofia Jorge, Kendrah Kidd, Petr Vylet’al, Estela Nogueira, Lauren Martin, Katrice Howard, Veronika Barešová, Kateřina Hodaňová, Aleš Hnízda, Oana Moldovan, Catarina Silveira, Ana Margarida Coutinho, José António Lopes, Anthony J. Bleyer, Stanislav Kmoch, Martina Živná
Publikováno v:
Kidney International Reports, Vol 8, Iss 5, Pp 1112-1116 (2023)
Externí odkaz:
https://doaj.org/article/578e96a7a178440d98d7e8bb2fdeb468
Autor:
Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer
Publikováno v:
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the p
Externí odkaz:
https://doaj.org/article/8ab1799f3ce441279d9513d18436243b
Autor:
Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Spinal muscular atrophy (SMA) is an inherited neuromuscular disease affecting 1 in 8,000 newborns. The majority of patients carry bi‐allelic variants in the survival of motor neuron 1 gene (SMN1). SMN1 is located in a duplicated
Externí odkaz:
https://doaj.org/article/0b379a1de883407db431fdd402fb9fb5
Autor:
Christine Gast, Anthony Marinaki, Monica Arenas-Hernandez, Sara Campbell, Eleanor G. Seaby, Reuben J. Pengelly, Daniel P. Gale, Thomas M. Connor, David J. Bunyan, Kateřina Hodaňová, Martina Živná, Stanislav Kmoch, Sarah Ennis, G. Venkat-Raman
Publikováno v:
BMC Nephrology, Vol 19, Iss 1, Pp 1-11 (2018)
Abstract Background Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by mutations in the UMOD gene (ADTKD-UMOD) is considered rare and often remains unrecognised. We aimed to establish the prevalence of genetic kidney diseases, ADT
Externí odkaz:
https://doaj.org/article/6d68b12c86d841aea2fe1b469fd86639
Autor:
Samih H. Nasr, Marie C. Hogan, Stanislav Kmoch, Khurrum Siddique, Mariam P. Alexander, Ann M. Moyer, Alessia Buglioni, Linda Hasadsri, Kendrah Kidd, Anthony J. Bleyer, Kateřina Hodaňová
Publikováno v:
Kidney International Reports
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::197858ff0356e0d029884742a7f0db4b
https://doi.org/10.1016/j.ekir.2021.05.042
https://doi.org/10.1016/j.ekir.2021.05.042
Autor:
Seth L. Alper, Rebecca P. Hughey, Hannah C. Ainsworth, Victoria Robins, Petr Vylet'al, Tomáš Zima, Alena Vrbacká, Kateřina Hodaňová, Hana Hartmannová, Anthony J. Bleyer, Kendrah Kidd, Martina Živná, Carl D. Langefeld, Abbigail Taylor, Drahomira Springer, Katrice Howard, Maegan Harden, Anna Přistoupilová, Stanislav Kmoch, Ibrahim Bitar, Steven M. Harrison, Niall J. Lennon, Lauren Martin, Veronika Baresova
Publikováno v:
American Journal of Nephrology. 52:378-387
Introduction: Patients with ADTKD-MUC1 have one allele producing normal mucin-1 (MUC1) and one allele producing mutant MUC1, which remains intracellular. We hypothesized that ADTKD-MUC1 patients, who have only 1 secretory-competent wild-type MUC1 all
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2cd96461c335888b322fa024cce5a37c
https://doi.org/10.1159/000515810
https://doi.org/10.1159/000515810
Autor:
Martina Živná, Gabriela Dostálová, Veronika Barešová, Dita Mušálková, Ladislav Kuchař, Befekadu Asfaw, Helena Poupětová, Hana Vlášková, Tereza Kmochová, Petr Vyletal, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Lenka Steiner-Mrázová, Aleš Hnízda, Martin Radina, Miroslav Votruba, Jana Sovová, Helena Trešlová, Larisa Stolnaja, Petra Reková, Lenka Roblová, Eva Honsová, Helena Hůlková, Ivan Rychlík, Anthony J. Bleyer, Aleš Linhart, Jakub Sikora, Stanislav Kmoch
BackgroundClassic Fabry disease (FD) is caused by GLA mutations that result in enzymatic deficiency of alpha-galactosidase A (AGAL), lysosomal storage of globotriaosylceramide, and a resulting multisystemic disease. In non-classic later-onset FD, pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3ede51a9102b69783bdeaf4b7f83cc9
https://hdl.handle.net/20.500.14178/1711
https://hdl.handle.net/20.500.14178/1711
Autor:
Victoria Robins, Maegan Harden, Anna Greka, Miroslav Votruba, Alese Hunt, Petr Vyleťal, Sri Vidya, Hana Hartmannová, Shahriar Moossavi, Georgeanna Tsoumas, Brendan Blumenstiel, Kateřina Hodaňová, Anthony J. Bleyer, Kendrah Kidd, Martina Živná, Annie Santi, Marwan Abbas, Lauren Martin, Stanislav Kmoch, Elizabeth Swain, Abbigail Taylor, Ebun Akinbola
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose To evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases. Methods Retrospective study from 1996–2017 analyzing data from an academic referral center specializing in autosomal dominant tubul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::697823fee4c2353cbc6c8cc1f0705990
https://doi.org/10.1038/s41436-019-0617-8
https://doi.org/10.1038/s41436-019-0617-8
Autor:
Petr, Vylet'al, Kendrah, Kidd, Hannah C, Ainsworth, Drahomíra, Springer, Alena, Vrbacká, Anna, Přistoupilová, Rebecca P, Hughey, Seth L, Alper, Niall, Lennon, Steven, Harrison, Maegan, Harden, Victoria, Robins, Abbigail, Taylor, Lauren, Martin, Katrice, Howard, Ibrahim, Bitar, Carl D, Langefeld, Veronika, Barešová, Hana, Hartmannová, Kateřina, Hodaňová, Tomáš, Zima, Martina, Živná, Stanislav, Kmoch, Anthony J, Bleyer
Publikováno v:
Am J Nephrol
INTRODUCTION: Patients with ADTKD-MUC1 have one allele producing normal mucin-1 (MUC1) and one allele producing mutant MUC1, which remains intracellular. We hypothesized that ADTKD-MUC1 patients, who have only 1 secretory-competent wild-type MUC1 all
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::38540289ab8d093d8b6f4b660318170a
https://pubmed.ncbi.nlm.nih.gov/34098564
https://pubmed.ncbi.nlm.nih.gov/34098564
Autor:
Lenka Mrázová, Surendra Dasari, Stanislav Kmoch, Tereza Kmochová, Kateřina Hodaňová, Helena Trešlová, Jakub Sikora, Viktor Stránecký, Romana Rysava, Martina Živná, Ivan Rychlik, Milan Jirsa, Ellen D. McPhail, Nelson Leung, Anthony J. Bleyer, Lenka Nosková, Petr Přikryl, Michal Pohludka, Eva Honsová, Hana Hartmannová, Mariia Lunova, Dita Musalkova
Publikováno v:
Kidney international. 101(2)
Amyloid A amyloidosis is a serious clinical condition resulting from the systemic deposition of amyloid A originating from serum amyloid A proteins with the kidneys being the most commonly and earliest affected organ. Previously described amyloid A a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf11e9973ecb40cf6406536669c6dc0c
https://pubmed.ncbi.nlm.nih.gov/35065689
https://pubmed.ncbi.nlm.nih.gov/35065689