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...
A novel gene ACTRT3 mutations induce sperm malformations and fertilization failure via Acrosomal ultrastructural defects [0.03%]
ACTRT3基因突变通过顶体超微结构缺陷诱导精子畸形和受精失败
Zhenhan Xu,Na Lu,Jintao Guo et al.
Zhenhan Xu et al.
Numerous actin-related proteins (ARPs) deficiencies have been confirmed to cause sperm acrosomal structural abnormalities, representing significant genetic factors in male infertility. We identified a patient with a missense mutation in ACT...
Nucleic acid-based therapeutic strategies for modulator-refractory cystic fibrosis-causing variants [0.03%]
核酸基治疗策略用于调节因子难治性囊性纤维化致病突变
Mark D Leahy,Immacolata Zollo,Luka A Clarke et al.
Mark D Leahy et al.
Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR) gene that impair epithelial chloride ion transport, leading to progressive lung dysfunct...
Evidence that disruption of Discoidin domain receptor 2 contributes to palate malformations through effects on the extracellular matrix [0.03%]
DISCOSIDIN 域受体2的干扰通过影响细胞外基质而导致腭部畸形的证据
Julia A Capecki,Helena Shkuro,Öznur Yilmaz et al.
Julia A Capecki et al.
Orofacial clefting (OFC) is among the most common birth defects and can occur either as part of a syndrome or in isolation (nonsyndromic, ns). Cleft palate only (CPO) is an OFC subtype. Here, we searched for novel nsCPO risk genes carrying ...
Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6 [0.03%]
烟酰胺核糖可预防nemaline肌病6型的线粒体功能障碍
Rianne J Baelde,Leander A Vonk,Edgar E Nollet et al.
Rianne J Baelde et al.
Nemaline Myopathy type 6 (NEM6) is a congenital myopathy caused by variants in Kelch-repeat-and-BTB-(POZ)-Domain-Containing-13 (KBTBD13). The majority of the NEM6 patients harbor the Dutch founding variant KBTBD13R408C (c.1222C > T, p.Arg40...
Retraction: Aqua-soluble DDQ reduces the levels of Dr1 and Ab and inhibits abnormal interactions between Ab and Dr1 and protects Alzheimer's disease neurons from Ab- and Dr1-induced mitochondrial and synaptic toxicities [0.03%]
撤回：Aqua-可溶性DDQ降低Dr1和Ab的水平，抑制Ab和Dr1之间的异常相互作用，并保护阿尔茨海默病神经元免受Ab和Dr1引起的线粒体和突触毒性的影响