Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients [0.03%]
临床基因组测序在神经退行性疾病中的应用——首批500例患者的结果分析
Emma Ehn,Håkan Thonberg,Inger Nennesmo et al.
Emma Ehn et al.
Neurodegenerative diseases (NDDs) are clinically and genetically heterogeneous, requiring neuropathology or molecular testing for a definitive diagnosis. Clinical whole genome sequencing (WGS) enables comprehensive variant calling across fl...
NRAS mutation in a central conducting lymphatic anomaly and PPFIBP1::ROS1 fusion in a Gorham-stout disease patient [0.03%]
中枢导管淋巴异常中的NRAS突变和戈拉姆- Stout病患者的PPFIBP1:: ROS1融合基因
Guangxian Yang,Haoran Ren,Jinghua Wang et al.
Guangxian Yang et al.
Lymphatic malformations (LMs) can lead to severe clinical complications, including disfigurement and even death. While genomic alterations have been identified in LMs, the genomic landscape of complex LMs remains poorly defined due to their...
Single-cell transcriptomic integrated with machine learning reveals human retinal cell-specific biomarkers in diabetic retinopathy [0.03%]
单细胞转录组整合机器学习发现糖尿病视网膜病变中的人类特异性视网膜细胞生物标志物
Sen Lin,Luning Yang,Yiwen Tao et al.
Sen Lin et al.
Background: Diabetic retinopathy (DR) is a leading cause of vision impairment worldwide, yet the cell-type-specific molecular alterations associated with disease progression remain incompletely understood. This study aime...
Daniele Galatolo,Devid Damiani,Valentina Naef et al.
Daniele Galatolo et al.
Biallelic pathological variants in CYP2U1 are associated with SPG56, a complex ultra-rare form of hereditary spastic paraplegia. CYP2U1 encodes a member of the cytochrome P450 family 2, which is highly expressed in the brain and involved in...
Functional constraint, not evolutionary domain expansion, is a stronger correlate of pathogenic variant burden in human RNA-binding proteins [0.03%]
功能约束而非进化域扩张是人类RNA结合蛋白致病突变负担的更强相关因素
Kyota Yasuda
Kyota Yasuda
Whether evolutionary innovation predisposes genes to pathogenic variation is a fundamental question in evolutionary medicine. RBP domain family diversity correlates with neural complexity across metazoans via vertebrate-specific domain expa...
DDX3X syndrome mutations lock DDX3X-RNA conformational states to drive persistent pathological condensation and neuronal death [0.03%]
DDX3X综合征突变可将DDX3X-RNA构象状态锁定，从而驱动持续的病理凝聚和神经元死亡
Poulami Ghosh,Shivani Krishna Kapuganti,Sabhyata Gopal et al.
Poulami Ghosh et al.
DDX3X is a highly conserved RNA helicase associated with RNA metabolism, translation initiation, and deciding cell fate choices. Spontaneous mutations in DDX3X cause a rare genetic human disorder called DDX3X syndrome, showing a spectrum of...
A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis [0.03%]
Kozlowski型脊柱元骨发育不全中的一种新发TRPV4变异体c.2479C>G（p.Pro827Ala）的鉴定与功能分析
Congcong Teng,Ming He,Chao Zhang et al.
Congcong Teng et al.
Spondylometaphyseal dysplasia, Kozlowski type (SMDK), is an autosomal dominant skeletal disorder characterized by abnormalities of the spine, metaphyses and epiphyses. It is associated with variants in TRPV4, although the underlying molecul...
SPEN deficiency contributes to the development of orofacial clefts in humans and mice [0.03%]
视黄酸受体辅因子SPEN缺乏通过影响HOXA基因簇表达促进唇腭裂发生发育异常
Bum Jun Kim,Andrés Hernández-García,David L Curtis et al.
Bum Jun Kim et al.
Haploinsufficiency of SKI, PRDM16, RERE, PAX7, and GRHL3 have been implicated in the development of orofacial clefting (OFC) associated with chromosome 1p36 deletions based on human and/or mouse data. Haploinsufficiency of SPEN, a 1p36 gene...
Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics [0.03%]
胎儿肌细胞染色质状态和CpG开放联盟标志物及其与成人肌肉和胃肠道遗传学的交集
Xi Cheng,Cuipei Wu,Xiaohe Yang et al.
Xi Cheng et al.
Background: Epigenetic inheritance links fetal chromatin organization and CpG methylation to lifelong tissue phenotypes. We tested the Fetal Chromatin-CpG Developmental Blueprint (FCCD-B) model, proposing that fetal chrom...
The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes [0.03%]
DVL1变异引起的C端异常影响Robinow综合征表型
Shruti S Tophkhane,Gamze Akarsu,Sarah J Gignac et al.
Shruti S Tophkhane et al.
Robinow Syndrome is a genetically heterogeneous, rare skeletal disorder characterized by craniofacial and limb defects. All 7 causative genes lie in the Wingless-related Integration site-1 (WNT) pathway. Here we study the pathogenesis of DV...