Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome [0.03%]
组蛋白去乙酰化酶4的一个保守的14-3-3结合位点发生错义突变引起一种新的智力障碍综合征
Emma Wakeling,Meriel McEntagart,Michael Bruccoleri et al.
Emma Wakeling et al.
Histone deacetylases play crucial roles in the regulation of chromatin structure and gene expression in the eukaryotic cell, and disruption of their activity causes a wide range of developmental disorders in humans. Loss-of-function alleles...
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias [0.03%]
对多个患者组织和父母血液进行深度全基因组测序，揭示先天性膈疝的复杂遗传病因
Eric L Bogenschutz,Zac D Fox,Andrew Farrell et al.
Eric L Bogenschutz et al.
The diaphragm is critical for respiration and separation of the thoracic and abdominal cavities, and defects in diaphragm development are the cause of congenital diaphragmatic hernias (CDH), a common and often lethal birth defect. The genet...
Caution when using network partners for target identification in drug discovery [0.03%]
谨防利用网络搭档进行药物发现中的靶点识别
Identifying novel, high-yield drug targets is challenging and often results in a high failure rate. However, recent data indicates that leveraging human genetic evidence to identify and validate these targets significantly increases the lik...
De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies [0.03%]
具有相似先天性异常个体的RPEL3结构域中PHACTR4的新错义变异
PHACTR4 is proposed to play a role in embryonic development but has yet to be associated with human disease. Here we report the detailed clinical features of two individuals for whom molecular diagnostic testing was undertaken at a large di...