自引率: 2.3%
被引量: 55192
通过率: 暂无数据
审稿周期: 暂无数据
版面费用: 暂无数据
国人发稿量: 10
投稿须知/期刊简介:
Genes & Development publishes research papers of general interest and biological significance in molecular biology, molecular genetics, and developmental biology.
期刊描述简介:
Genes & Development publishes high-quality research papers of broad general interest and biological significance in the areas of molecular biology, molecular genetics, and related fields. In addition to Review Articles and Perspectives, Genes & Development publishes three research formats—Research papers, short Research Communications, and Resource/Methodology papers. Genes & Development has been named one of the Top Five Research Journals in the field of Molecular Biology and Genetics. Genes & Development has an Impact Factor of 9.41 and is ranked #1 among Developmental Biology research journals, #4 in Genetics and Heredity, and #6 in Cell Biology (ISI Journal Citation Reports®, 2017). The journal is published in association with The Genetics Society.
-
Corrigendum: TAp73 is a central transcriptional regulator of airway multiciliogenesis.
被引量：- 发表：2024
-
Corrigendum: XBP-1 deficiency in the nervous system protects against amyotrophic lateral sclerosis by increasing autophagy.
被引量：- 发表：2024
-
A cellular identity crisis? Plasticity changes during aging and rejuvenation.
被引量：- 发表：1970
-
Developmental regulation of dermal adipose tissue by BCL11b.
被引量：- 发表：1970
-
Heterozygous RPA2 variant as a novel genetic cause of telomere biology disorders.
Premature telomere shortening or telomere instability is associated with a group of rare and heterogeneous diseases collectively known as telomere biology disorders (TBDs). Here we identified two unrelated individuals with clinical manifestations of TBDs and short telomeres associated with the identical monoallelic variant c.767A>G; Y256C in RPA2 Although the replication protein A2 (RPA2) mutant did not affect ssDNA binding and G-quadruplex-unfolding properties of RPA, the mutation reduced the affinity of RPA2 with the ubiquitin ligase RFWD3 and reduced RPA ubiquitination. Using engineered knock-in cell lines, we found an accumulation of RPA at telomeres that did not trigger ATR activation but caused short and dysfunctional telomeres. Finally, both patients acquired, in a subset of blood cells, somatic genetic rescue events in either POT1 genes or TERT promoters known to counteract the accelerated telomere shortening. Collectively, our study indicates that variants in RPA2 represent a novel genetic cause of TBDs. Our results further support the fundamental role of the RPA complex in regulating telomere length and stability in humans.
被引量：1 发表：1970
