Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes [0.03%]
22q11.2微缺失位点中线粒体基因剂量不足的抑制性遗传相互作用定义了脑和心脏表型
Meghan Wynne,Stephanie A Zlatic,Austin S Park et al.
Meghan Wynne et al.
Genomic copy number variations, such as the 22q11.2 microdeletion syndrome, cause pleiotropic disorders that affect diverse organ systems and disrupt neurodevelopment. Deletions of the 22q11.2 locus reduce the dosage of up to 46 protein cod...
Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model [0.03%]
黏脂贮积病Ⅱ型：新型变异、临床变异及HAP1细胞系作为疾病模型的评估
Noura R Eissa,Ghada M Abdel-Salam,Marcelina Kretkiewicz et al.
Noura R Eissa et al.
Mucolipidosis type II is an autosomal recessive lysosomal storage disease resulting from biallelic variants in the GNPTAB gene encoding the N-acetylglucosamine phosphotransferase α/β subunits. Deficiency of this enzyme disrupts the mannos...
CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma [0.03%]
利用外部生物银行序列数据进行罕见变异分析的强大的低成本工具CoCoRV-nf可识别出新的候选易感基因，用于肌萎缩侧索硬化和神经母细胞病的研究
Saima Sultana Tithi,Johnathan Cooper-Knock,Michael Benatar et al.
Saima Sultana Tithi et al.
Although sequencing costs have steadily decreased with advances in technology, they remain high for large scale studies. The design of traditional individual-disease sequencing studies is either case only or cases with relatively few contro...
A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome [0.03%]
一个患者来源的小鼠模型再现了SHINE综合征的分子、神经学和睡眠症状
Sharon Tamir,Jiffin Paulose,Anh Nguyen et al.
Sharon Tamir et al.
SHINE syndrome is a rare neurodevelopmental disorder caused by mutations in DLG4, which encodes the postsynaptic scaffolding protein PSD-95. Key symptoms include sleep problems, hypotonia, intellectual disability, neurological disorders, an...
The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism [0.03%]
hsa_circ_0000973与MBOAT2在高甘油三酯血症合并糖代谢异常中的潜在调控关系研究
Fengdan Wang,Yixue Yang,Xiaotong Li et al.
Fengdan Wang et al.
Hypertriglyceridemia (HTG) frequently occurs in population with abnormal glucose metabolism (AGM), exacerbating risk. In our preliminary researches, we have screened hsa_circ_0000973 and MBOAT2 as the possible regulatory elements of HTG in ...
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...