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of 8
pro vyhledávání: '"Martin Bezdicka"'
Autor:
Martin Bezdíčka, Dana Zemková, Sylva Skálová, Eva Hovorková, Miroslav Podhola, Jan Burkert, Jakub Zieg
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Monogenic nephrotic syndrome (NS) is associated with a resistance to initial glucocorticoid therapy and causative variants, which may be found in several genes influencing podocyte stability and kidney development. The TTC21B gene, which encodes the
Externí odkaz:
https://doaj.org/article/76c93d0cacbe44bea1cd417d0d3b4726
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Dent disease is an X-linked recessive renal tubular disorder characterized by proximal tubule dysfunction. Typical features include low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and chronic renal failur
Externí odkaz:
https://doaj.org/article/36c0ae4ad5014db68bd6d86accb05dcb
Autor:
Martin Bezdicka, Ondrej Cinek, Valerij Semjonov, Katerina Polackova, Eva Sladkova, Jakub Zieg, Moin A. Saleem, Ondrej Soucek
Publikováno v:
Physiological Reports, Vol 12, Iss 3, Pp n/a-n/a (2024)
Abstract As the molecular mechanism of nephrotic syndrome remains largely undiscovered, patients continue to be exposed to the pros and cons of uniform glucocorticoid treatment. We explored whether the exposure of in vitro‐cultivated podocytes to s
Externí odkaz:
https://doaj.org/article/4afec8f4782b4ff0a5731de33a040a5e
Autor:
Martin Bezdicka, Filip Kaufman, Ivana Krizova, Alzbeta Dostalkova, Michaela Rumlova, Tomas Seeman, Karel Vondrak, Filip Fencl, Jakub Zieg, Ondrej Soucek
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Approximately one third of children with steroid-resistant nephrotic syndrome (SRNS) carry pathogenic variants in one of the many associated genes. The WT1 gene coding for the WT1 transcription factor is among the most frequently affected ge
Externí odkaz:
https://doaj.org/article/b11a26d8ae524e0d88fce9c3e005a802
Publikováno v:
Clinical and experimental nephrology.
Genetic nephrotic syndrome is caused by pathogenic variants in genes encoding proteins necessary for the stability and functionality of the glomerular filtration barrier. To date, more than 70 genes associated with steroid-resistant nephrotic syndrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1d794236558ec7854dda1f54899b76b
https://pubmed.ncbi.nlm.nih.gov/36482266
https://pubmed.ncbi.nlm.nih.gov/36482266
Autor:
Martin Bezdicka, Filip Kaufman, Ivana Krizova, Alzbeta Dostalkova, Michaela Rumlova, Tomas Seeman, Karel Vondrak, Filip Fencl, Jakub Zieg, Ondrej Soucek
Publikováno v:
Scientific reports. 12(1)
Approximately one third of children with steroid-resistant nephrotic syndrome (SRNS) carry pathogenic variants in one of the many associated genes. The WT1 gene coding for the WT1 transcription factor is among the most frequently affected genes. Case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1122d8a44d6acb9bd78603bcfbe8a47
https://pubmed.ncbi.nlm.nih.gov/35610319
https://pubmed.ncbi.nlm.nih.gov/35610319
Autor:
Martin, Bezdicka, Petra, Kleiblova, Jiri, Soucek, Marianna, Borecka, Eva, El-Lababidi, Daniel, Smrz, Michal, Rataj, Zdenek, Sumnik, Jana, Malikova, Ondrej, Soucek
Publikováno v:
Hormones (Athens, Greece). 20(4)
Familial non-autoimmune hyperthyroidism is a rare disease caused by germline activating variants in the thyroid-stimulating hormone receptor (TSHR) gene. The c.1856A G (p.Asp619Gly) pathogenic variant has been described in cases of toxic adenoma but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::770504953db9c02da14c914013b806fc
https://pubmed.ncbi.nlm.nih.gov/34142359
https://pubmed.ncbi.nlm.nih.gov/34142359
Autor:
Jakub Zieg, Martin Bezdíčka, Michaela Němčíková, Miroslava Balaščáková, Martina Suková, Katalin Štěrbová, Karel Vondrák, Jiří Dušek, Anna Křepelová
Publikováno v:
Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-10 (2023)
Abstract Background Schimke immunoosseous dysplasia (SIOD) is an ultra-rare inherited disease affecting many organ systems. Spondyloepiphyseal dysplasia, T-cell immunodeficiency and steroid resistant nephrotic syndrome are the main symptoms of this d
Externí odkaz:
https://doaj.org/article/427d742ac680453f8b0f9cbcd9383ec2