Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Jitka, Stekrova"'
Autor:
Marketa Safarikova, Jitka Stekrova, Eva Honsova, Vera Horinova, Vladimir Tesar, Jana Reiterova
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Abstract Background Mutations in INF2 are frequently responsible for focal segmental glomerulosclerosis (FSGS), which is a common cause of end stage renal disease (ESRD); additionally, they are also connected with Charcot-Marie-Tooth neuropathy. INF2
Externí odkaz:
https://doaj.org/article/6bb277a15084446294bb2e6f07cfd039
Autor:
Veronika Elisakova, Miroslav Merta, Jana Reiterova, Alica Baxova, Jaroslav Kotlas, Katerina Hirschfeldova, Lena Obeidova, Vladimir Tesar, Jitka Stekrova
Publikováno v:
BMC Nephrology, Vol 19, Iss 1, Pp 1-7 (2018)
Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder, leading to end stage renal failure and kidney transplantation in its most serious form. The severity of the disease’s manifestati
Externí odkaz:
https://doaj.org/article/a4bd93f497214e91a08c006bd6bb99c3
Autor:
Lena Obeidova, Tomas Seeman, Filip Fencl, Kveta Blahova, Jan Hojny, Veronika Elisakova, Jana Reiterova, Jitka Stekrova
Publikováno v:
PLoS ONE, Vol 15, Iss 6, p e0235071 (2020)
Cystic kidney diseases are a very heterogeneous group of chronic kidney diseases. The diagnosis is usually based on clinical and ultrasound characteristics and the final diagnosis is often difficult to be made. Next-generation sequencing (NGS) may he
Externí odkaz:
https://doaj.org/article/40e5750d5d9e4ed0b7b184e68fb455e3
Publikováno v:
The Journal of molecular diagnostics : JMD. 24(8)
Many approaches aimed at improving next-generation sequencing output for clinical purposes exist. However, sequencing gaps or misalignments for regions that are difficult to cover because of their low complexity or high homology still exist. Our aim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b184b434dd555a6801b3e7ca89053d5
https://pubmed.ncbi.nlm.nih.gov/35697147
https://pubmed.ncbi.nlm.nih.gov/35697147
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Background Mutations in INF2 are frequently responsible for focal segmental glomerulosclerosis (FSGS), which is a common cause of end stage renal disease (ESRD); additionally, they are also connected with Charcot-Marie-Tooth neuropathy. INF2 encodes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0efa8235b789993d7f7a016fee920150
http://europepmc.org/articles/PMC6102913
http://europepmc.org/articles/PMC6102913
Autor:
M Merta, Veronika Elisakova, Reiterová J, Jaroslav Kotlas, Alica Baxova, Katerina Hirschfeldova, Jitka Stekrova, Lena Obeidova, Vladimir Tesar
Publikováno v:
BMC Nephrology
BMC Nephrology, Vol 19, Iss 1, Pp 1-7 (2018)
BMC Nephrology, Vol 19, Iss 1, Pp 1-7 (2018)
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder, leading to end stage renal failure and kidney transplantation in its most serious form. The severity of the disease’s manifestation depend
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0c1bb528278394f4a698b8e1c3f2a9a
http://europepmc.org/articles/PMC6032778
http://europepmc.org/articles/PMC6032778
Publikováno v:
Scopus-Elsevier
Background Renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid (UA) transport with severe complications, such as acute kidney injury. Type 1 is caused by a mutation in the SLC22A12 gene (URAT1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::387d0f942fc1b7f17eee565df40340ab
https://pubmed.ncbi.nlm.nih.gov/26418379
https://pubmed.ncbi.nlm.nih.gov/26418379
Autor:
M Merta, Frantisek Losan, Lena Obeidova, Vladimir Tesar, Milada Kohoutová, Veronika Elisakova, Reiterová J, Jitka Stekrova
Publikováno v:
BMC Medical Genetics
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder caused by mutation in either one of two genes, PKD1 and PKD2. High structural and sequence complexity of PKD genes makes the mutational diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd5c454eebc7859b9fb031b9c8845be3
https://doi.org/10.1186/1471-2350-15-41
https://doi.org/10.1186/1471-2350-15-41
Publikováno v:
Arab journal of nephrology and transplantation. 6(1)
Gitelman syndrome (GS) is a very rare autosomal recessive tubulopathy due to loss-of-function or mutation in solute carrier family12, member 3 gene (SLC12A3 gene) encoding thiazide-sensitive NaCl co-transporter in the distal convoluted tubule, leadin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::15df937e49b27d0606b143769250efb2
https://pubmed.ncbi.nlm.nih.gov/23282232
https://pubmed.ncbi.nlm.nih.gov/23282232
Publikováno v:
Nephrology Dialysis Transplantation. 31:i355-i355
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b5568fe991fc45172b054b42b520a629
https://doi.org/10.1093/ndt/gfw182.07
https://doi.org/10.1093/ndt/gfw182.07