Zobrazeno 1 - 10
of 498
pro vyhledávání: '"CLCN5"'
Akademický článek
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Autor:
Ruijue Zhu, Mingming Zhu, Boye Wang, Enen Chen, Danlei Cai, Yinghong Yang, Yi Liang, Chuqi Su, Ding Wang, Xiaofang Sun, Linhuan Huang, Yingjun Xie
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Introduction Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clinical diagnosis is
Externí odkaz:
https://doaj.org/article/24b2b46efe41447c85ae44857f855aa3
Autor:
Carla Burballa, Mònica Duran, Cristina Martínez, Gema Ariceta, Gerard Cantero-Recasens, Anna Meseguer
Publikováno v:
Nefrología (English Edition), Vol 43, Iss , Pp 77-84 (2023)
Background and objectives: Dent's disease type 1 (DD1) is a rare X-linked hereditary pathology caused by CLCN5 mutations that is characterized mainly by proximal tubule dysfunction, hypercalciuria, nephrolithiasis/nephrocalcinosis, progressive chroni
Externí odkaz:
https://doaj.org/article/d896ff9a6c0747f9a8a0d3624feed5c3
Autor:
Carla Burballa, Mònica Duran, Cristina Martínez, Gema Ariceta, Gerard Cantero-Recasens, Anna Meseguer
Publikováno v:
Nefrología, Vol 43, Iss , Pp 76-83 (2023)
Resumen: Antecedentes y objetivo: La enfermedad de Dent tipo 1 (DD1) es una enfermedad hereditaria rara ligada al cromosoma X causada por mutaciones en el CLCN5 que se caracteriza principalmente por una disfunción del túbulo proximal, hipercalciuri
Externí odkaz:
https://doaj.org/article/ee83feabf3d141bb9a76f339002d3f8e
Autor:
S Hayward, J Norton, L Bownass, C Platt, Genomics England Research Consortium, H Campbell, E Watson, N Forrester, S Smithson, A Menon
Publikováno v:
BMC Nephrology, Vol 24, Iss 1, Pp 1-6 (2023)
Abstract Background The majority of cases of Dent’s disease are caused by pathogenic variants in the CLCN5 gene, which encodes a voltage-gated chloride ion channel (ClC-5), resulting in proximal tubular dysfunction. We present three members of the
Externí odkaz:
https://doaj.org/article/61dc7d97a71f4b9583bde86e5fadaa73
Autor:
Xianying Fang, Ji Hyun Kim, Sheng Cui, Yoo Jin Shin, Hanbi Lee, Eun Jeong Ko, Hae Il Cheong, Sejoong Kim, Hoon Seok Kim, Myungshin Kim, Chul Woo Yang, Sun Woo Lim, Byung Ha Chung
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103140- (2023)
Dent disease, an X-linked tubular disorder, is a rare condition that leads to low-molecular-weight proteinuria, hypercalciuria, kidney stones, and chronic kidney disease. Here, we successfully established a human induced pluripotent stem cells (hiPSC
Externí odkaz:
https://doaj.org/article/58cc291b480541cfb19ffe8a3e954e06
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 149-166 (2022)
Type 1 Dent disease is caused by changes in chloride voltage-gated channel 5 (CLCN5) gene on chromosome X, which causes the lack or dysfunction of chloride channel ClC-5. Affected subjects show proteinuria and hypercalciuria, and eventually develop e
Externí odkaz:
https://doaj.org/article/238a45230cd44fdcb6a497e050018e35
Autor:
Tibor Kalmár, Dániel Jakab, Zoltán Maróti, Orsolya Lakatos, Tibor Vas, Csaba Bereczki, Béla Iványi
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 2, p 966 (2024)
Dent disease type 1 is characterized by pathogenic CLCN5 gene variants and impaired receptor-mediated endocytosis in proximal tubules. However, mutation-related abnormalities in proximal tubules have not yet been described. Here, we present three pat
Externí odkaz:
https://doaj.org/article/76a63526fed24287afae0bdae10e8bc3
Autor:
Tibor Kalmár, Sándor Turkevi-Nagy, László Bitó, László Kaiser, Zoltán Maróti, Dániel Jakab, Annamária Letoha, Péter Légrády, Béla Iványi
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 24, p 17489 (2023)
This study highlights the importance of a combined diagnostic approach in the diagnosis of rare diseases, such as adult-onset genetic FSGS. We present three adult patient cases evaluated with kidney biopsy for proteinuria, chronic kidney disease, and
Externí odkaz:
https://doaj.org/article/e5324034e72448fe9149f48de319ea49
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.