Mosaic expression of SLC35A2 pathogenetic variants impairs neuronal migration and dendritogenesis in the developing cortex [0.03%]
SLC35A2致病变异的镶嵌表达会影响发育皮质神经元的迁移和树突形成
Antonio Falace,Léa Corbières,Lucas Silvagnoli et al.
Antonio Falace et al.
Brain somatic variants in the SLC35A2 gene, encoding for a Golgi galactose transporter, represent the major cause of mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Clinical features associat...
Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient [0.03%]
Smith-Lemli-Opitz综合征患者的诱导多能干细胞来源的星形胶质细胞中的脂质代谢、线粒体呼吸和神经保护作用受损
Keiji Kawatani,Samantha K Baker,Jazmine D W Yaeger et al.
Keiji Kawatani et al.
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disorder characterized by congenital malformations, intellectual disability, and behavioral abnormalities. SLOS results from mutations in the DHCR7 gene, leading to impaired c...
Q373fs variant of RBM20 affects splicing and expression of cardiac-related genes and cardiac function: human sudden death case and mouse experiments [0.03%]
RBM20变异影响心脏相关基因的剪接和表达以及心脏功能：人体猝死案例与小鼠实验
Aya Miura,Takuma Yamamoto,Mai Imasaka et al.
Aya Miura et al.
RBM20 is one of the genes predisposing to dilated cardiomyopathy (DCM). Several dozen variants associated with DCM have been reported so far. Variants in the arginine/serine-rich domain and the RNA recognition motif domain have been well st...
Differential expression of a disease-associated MRE11 variant reveals distinct phenotypic outcomes [0.03%]
与疾病相关的MRE11变异体的不同表达揭示了不同的表型结果
McKenna B DeFoer,Ahmed M Mostafa,Andrea J Hartlerode et al.
McKenna B DeFoer et al.
The MRE11 DNA nuclease plays central roles in the repair of DNA double-strand breaks (DSBs) as a core component of the MRE11-RAD50-NBS1 (MRN) complex. MRN localizes to chromosomal DSBs and recruits and activates the DSB repair protein kinas...
Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective [0.03%]
唇腭裂亚型的遗传异质性和同质性：来自裂隙联盟的全基因组关联研究
Kyle Dack,Kerstin U Ludwig,Evie Stergiakouli et al.
Kyle Dack et al.
Several genome wide association studies (GWASs) of orofacial cleft have been conducted. However only a few such studies to date have combined all cleft cases, focused on subtypes other than non-syndromic cleft lip with/without cleft palate,...
Genetic variants associated with gout identified through a genome-wide study in the UK biobank (N = 150 542) [0.03%]
英国生物样本库(N=150 542)中开展的全基因组研究确定了与痛风相关的遗传变异
Yiwen Tao,Tengda Cai,Qi Pan et al.
Yiwen Tao et al.
Gout is a prevalent and painful form of inflammatory arthritis associated with hyperuricemia, which leads to monosodium urate crystal deposition in joints and surrounding tissues, triggering acute inflammatory responses. This disease is als...
Determining off-target effects of splice-switching antisense oligonucleotides using short read RNAseq in neuronally differentiated human induced pluripotent stem cells [0.03%]
利用短读RNA测序鉴定神经分化人诱导多能干细胞中拼接切换反义寡核苷酸的脱靶效应
Elsa C Kuijper,Linda van der Graaf,Barry A Pepers et al.
Elsa C Kuijper et al.
Antisense oligonucleotides (AONs) are small pieces of chemically modified DNA or RNA that bind to RNA in a sequence-specific manner based on Watson-Crick base-pairing. Splice-switching AONs are designed to modulate pre-mRNA splicing, thereb...
Atypical phenotypic characteristics, mutation analysis and treatment in a family of riboflavin transporter deficiency caused by SLC52A3 variants [0.03%]
由SLC52A3变异引起的核黄素转运蛋白缺乏症家系的临床特征、突变分析及治疗研究
Peipei Li,Ting Zhang,Hongen Xu et al.
Peipei Li et al.
Variants in the SLC52A3 gene have been associated with riboflavin transporter deficiency type 3 (RTD3), a severe neurodegenerative disorder, typically inherited in an autosomal recessive manner. In this study, two SLC52A3 variants (NM_03340...
Genomic structural equation Modeling analysis of glaucoma Endophenotypes: investigating genetic architecture and non-intraocular pressure mechanisms [0.03%]
青光眼表型的基因组结构方程模型分析：研究遗传构成及非眼内压机制
Maryam Marzban,Santiago Diaz-Torres,Jackson Thorp et al.
Maryam Marzban et al.
To explore the genetic underpinnings of glaucoma endophenotypes influenced by mechanisms other than intraocular pressure (IOP), this study employs genomic structural equation modelling (GenomicSEM) and utilises summary statistics from Genom...
Transcriptional downregulation of rhodopsin is associated with desensitization of rods to light-induced damage in a murine model of retinitis pigmentosa [0.03%]
视紫红质转录下调与鼠色素性视网膜炎模型感光细胞耐受光损伤相关联
Shimpei Takita,Hemavathy Harikrishnan,Masaru Miyagi et al.
Shimpei Takita et al.
Class I rhodopsin mutations are known for some of the most severe forms of vision impairments in dominantly inherited rhodopsin retinitis pigmentosa. They disrupt the VxPx transport signal, which is required for the proper localization of r...