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FLNA ROD1 and ROD2 Domains are Implicated in Congenital Lower Urinary Tract Obstruction.

作者信息

Vidic Clara, Stegmann Jil, Bendixen Charlotte, Schneider Sophia, Hahn Daniel, Felger Tim, Hofmann Aybike, Rösch Wolfgang, Schröder Tabea, Zaniew Marcin, Polok Marcin, Sikora Przemysław, Zachwieja Katarzyna, Miklaszewska Monika, Krzemien Grazyna, Tkaczyk Marcin, Hofmann Hannah, Kilis-Pstrusinska Katarzyna, Krebs Wolfgang, Chan Melanie, Wölfle Joachim, Galiano Matthias, Hilger Alina C

机构信息

Institute of Human Genetics, University of Bonn, Bonn, Germany.

Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.

出版信息

Kidney Int Rep. 2025 May 1;10(7):2466-2471. doi: 10.1016/j.ekir.2025.04.053. eCollection 2025 Jul.

DOI:10.1016/j.ekir.2025.04.053
PMID:40677343
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12266153/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e486/12266153/eb13601a699a/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e486/12266153/eb13601a699a/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e486/12266153/eb13601a699a/gr1.jpg

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FLNA ROD1 and ROD2 Domains are Implicated in Congenital Lower Urinary Tract Obstruction.丝状肌动蛋白的ROD1和ROD2结构域与先天性下尿路梗阻有关。
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本文引用的文献

1
Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.FLNA 中的外显子跳跃诱导变异与 frontometaphyseal 发育不良的轻度形式有关。
Am J Med Genet A. 2021 Dec;185(12):3675-3682. doi: 10.1002/ajmg.a.62424. Epub 2021 Jul 17.
2
The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.X 连锁细丝蛋白病：临床与分子分析的协同见解。
Hum Mutat. 2020 May;41(5):865-883. doi: 10.1002/humu.24002. Epub 2020 Mar 11.
3
Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.
男性存活的梅干腹综合征可能是由 X 连锁细丝蛋白 A 基因的杂合错义突变引起的。
BMC Med Genet. 2020 Feb 21;21(1):38. doi: 10.1186/s12881-020-0973-x.
4
Gene expression across mammalian organ development.哺乳动物器官发育过程中的基因表达。
Nature. 2019 Jul;571(7766):505-509. doi: 10.1038/s41586-019-1338-5. Epub 2019 Jun 26.
5
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.BNC2 中的罕见变异与常染色体显性遗传先天性下尿路梗阻有关。
Am J Hum Genet. 2019 May 2;104(5):994-1006. doi: 10.1016/j.ajhg.2019.03.023.
6
The copy number variation landscape of congenital anomalies of the kidney and urinary tract.先天性肾和泌尿道畸形的拷贝数变异景观。
Nat Genet. 2019 Jan;51(1):117-127. doi: 10.1038/s41588-018-0281-y. Epub 2018 Dec 21.
7
Congenital lower urinary tract obstruction: a population-based epidemiological study.先天性下尿路梗阻：基于人群的流行病学研究。
BJOG. 2012 Nov;119(12):1455-64. doi: 10.1111/j.1471-0528.2012.03476.x. Epub 2012 Aug 24.
8
Differential mechanical stability of filamin A rod segments.细丝蛋白 A 杆状结构域的机械稳定性差异。
Biophys J. 2011 Sep 7;101(5):1231-7. doi: 10.1016/j.bpj.2011.07.028.
9
The molecular basis of filamin binding to integrins and competition with talin.细丝蛋白与整合素结合及与踝蛋白竞争的分子基础。
Mol Cell. 2006 Feb 3;21(3):337-47. doi: 10.1016/j.molcel.2006.01.011.
10
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7.
Hum Mol Genet. 1993 Jun;2(6):761-6. doi: 10.1093/hmg/2.6.761.