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...
A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy [0.03%]
患者成纤维细胞的功能框架确定ATP7A变异的致病性并鉴定出p.Q990P为远端运动神经病变的新原因
Gonzalo Perez-Siles,Bianca R Grosz,Melina Ellis et al.
Gonzalo Perez-Siles et al.
ATP7A is a P-type ATPase copper transporter and a central component of the intracellular network to maintain copper (Cu) homeostasis, trafficking between the trans-Golgi network (TGN) and the cell periphery in response to intracellular Cu l...
Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD [0.03%]
整合多平台遗传分析揭示NR5A1单倍体不足和母系15号染色体同质性二倍体通过双重分子病理学影响XY性别发育异常
Rui Dong,Chen Liu,Min Gao et al.
Rui Dong et al.
Background: Dual molecular diagnoses involving concurrent monogenic variants and imprinting disorders are increasingly recognized in complex phenotypes, yet systematic approaches to elucidate such convergence remain limit...
Circulating MYOM3 fragments reflect disease severity and therapeutic efficacy in tubular aggregate myopathy and Stormorken syndrome [0.03%]
循环MYOM3片段反映管状肌病和Stormorken综合征的疾病严重程度和治疗效果
Emma Lafabrie,Céline Tard,Pascal Cintas et al.
Emma Lafabrie et al.
Tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) are clinically overlapping disorders characterized by muscle weakness, thrombocytopenia, spleen anomalies and short stature. They are due to mutations affecting the Ca2+ senso...
The FVB-nmd SMARD1 mouse presents with early respiratory deficits and pathology that significantly impact lifespan [0.03%]
FVB-nmd SMARD1小鼠早期即出现影响寿命的呼吸缺陷和病理变化
Roxanne Muchow,Michelle Woolridge,Catherine L Smith et al.
Roxanne Muchow et al.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare, inherited genetic disease caused by mutations in the immunoglobulin mu binding protein (IGHMBP2) gene that result in spinal muscular atrophy with respiratory distr...
Utrophin requires α-Syntrophin to maintain neuromuscular junction integrity in mdx mice [0.03%]
Utrophin需要α-Syntrophin来维持mdx小鼠中神经肌肉接点的完整性
Alissa Wierenga,Michelle Mendoza,Saad O Malik et al.
Alissa Wierenga et al.
Dystrophin links the actin cytoskeleton to the extracellular matrix through the dystrophin-glycoprotein complex (DGC), providing structural stability to muscle fibers. In mdx mice, which lack dystrophin, neuromuscular junctions (NMJs) remai...