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Spotlight on Warsaw Breakage Syndrome

Abstract:
Abstract Warsaw breakage syndrome (WABS) is a very rare recessive hereditary disease caused by mutations in the gene coding for the DNA helicase DDX11, involved in genome stability maintenance and sister cohesion establishment. Typical clinical features observed in WABS patients include growth retardation, facial dysmorphia, microcephaly, hearing loss due to cochlear malformations and, at cytological level, sister chromatid cohesion defects. Molecular bases of WABS have not yet been elucidated, due to lack of disease animal model systems and limited knowledge of the DDX11 physiological functions. However, WABS is considered to belong to the group of cohesinopathies, genetic disorders due to mutations of subunits or regulators of cohesin, the protein complex responsible for tethering sister chromatids from the time of their synthesis till they separate in mitosis. Recent evidences suggest that cohesin and its regulators have additional key roles in chromatin organization by promoting the formation of chromatin loops. This “non-canonical” function of cohesin is expected to impact gene transcription during cell differentiation and embryonic development and its dis-regulation, caused by mutation/loss of genes encoding cohesin subunits or regulators, could originate the developmental defects observed in cohesinopathies. Ethiopathogenesis of WABS is discussed in line with these recent findings and evidence of a possible role of DDX11 as a cohesin regulator.
Author Listing: Francesca M Pisani
Volume: 12
Pages: 239 - 248
DOI: 10.2147/TACG.S186476
Language: English
Journal: The Application of Clinical Genetics

Application of Clinical Genetics

影响因子:2.8
是否综述期刊:否
是否OA:是
是否预警:不在预警名单内
发行时间:-
ISSN:1178-704X
发刊频率:-
收录数据库:ESCI/Scopus收录/DOAJ开放期刊
出版国家/地区:United Kingdom
出版社:Dove Medical Press

期刊介绍

年发文量 22
国人发稿量 -
国人发文占比 0%
自引率 0.0%
平均录取率 -
平均审稿周期 16 Weeks
版面费 -
偏重研究方向 Biochemistry, Genetics and Molecular Biology-Genetics
期刊官网 http://www.dovepress.com/the-application-of-clinical-genetics-journal
投稿链接 -

质量指标占比

研究类文章占比 OA被引用占比 撤稿占比 出版后修正文章占比
95.45% 96.55% - -

相关指数

影响因子
影响因子
年发文量
自引率
Cite Score

预警情况

时间 预警情况
2025年03月发布的2025版 不在预警名单中
2024年02月发布的2024版 不在预警名单中
2023年01月发布的2023版 不在预警名单中
2021年12月发布的2021版 不在预警名单中
2020年12月发布的2020版 不在预警名单中

JCR分区 WOS分区等级:Q2区

版本 按学科 分区
WOS期刊SCI分区
(2021-2022年最新版)
GENETICS & HEREDITY Q3

中科院分区

版本 大类学科 小类学科 Top期刊 综述期刊
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