New insights into HPDL protein: identification of a novel Bi-allelic variant, docking simulation study, and literature review [0.03%]
HPDL蛋白的新见解：一个新的双等位基因变异体的鉴定、对接模拟研究和文献回顾
Fatemeh Vaghefi,Teymoor Khosravi,Farzaneh Motallebi et al.
Fatemeh Vaghefi et al.
Background: Hereditary Spastic Paraplegia (HSP) is a rare neurodegenerative disorder causing progressive weakness and spasticity in the lower limbs. variants in the HPDL gene are linked to Spastic Paraplegia 83 (SPG83), a...
Transcriptomic and proteomic analysis of osteogenesis imperfecta disease-specific induced pluripotent stem cells [0.03%]
成骨不全症特异性诱导多能干细胞的转录组和蛋白质组分析
Ruijun Guo,Lingyu Huang,Yu Sha et al.
Ruijun Guo et al.
Background: Osteogenesis imperfecta (OI) is a rare genetic bone disorder for which treatment options remain limited. Disease-specific induced pluripotent stem cells (iPSCs) offer a valuable model to investigate its underl...
Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts [0.03%]
RAB3GAP2新型剪接位点变异的功能分析及其与胎儿先天性白内障的关系研究
Xuemei Tan,Yuanyuan Huang,Xiaobao Wei et al.
Xuemei Tan et al.
Background: Mutations in RAB3GAP2 are associated with Martsolf syndrome 1, characterized by postnatal microcephaly, congenital cataracts, and developmental delay. Two compound heterozygous variants of RAB3GAP2 were identi...
Characterizing core outcomes of responsible stewardship for human genomic data in the cloud [0.03%]
云端人类基因组数据负责任管理的核心成果的特征分析
Vasiliki Rahimzadeh,Bronwyn Walsh,Heidi L Rehm et al.
Vasiliki Rahimzadeh et al.
We present findings from a scoping review of the genomic data sharing literature used to inform a core outcomes set for responsible data stewardship in the cloud. Genomic and related health data stemming from government funded research have...
A novel pathogenic variant in folliculin identified in a Chinese family with BHD syndrome [0.03%]
BHD综合征中国家系中 Folliculin 新致病突变的鉴定
Na Xing,Yi-Shuai Li,Wei Wei et al.
Na Xing et al.
Background: This study aimed to investigate FLCN gene variants in Chinese patients presenting with familial spontaneous pneumothorax associated with Birt-Hogg-Dubé syndrome (BHDS). ...
Global distribution of mcr-carrying bacteria: an analysis of genomic data [0.03%]
耐药基因mcr的全球分布：基于基因组数据的分析
Komla Mawunyo Dossouvi,Fábio Parra Sellera,Ephraim Ehidiamen Ibadin et al.
Komla Mawunyo Dossouvi et al.
Background: Mobilized colistin resistance (mcr) gene has emerged as a major driver of colistin resistance. Therefore, this study aimed to determine the distribution of mcr-variants and mcr-carrying genomes deposited in th...
Genotypic and phenotypic spectrum of PRRT2-related variations: clinical analysis and treatment response in fourteen unrelated Chinese patients [0.03%]
PRLT2相关变异的表型和基因型谱分析及14例中国患者的临床特征和治疗反应
Fen Liu,Juhua Huang,Qiong Xiao et al.
Fen Liu et al.
Variant-to-function dissection of the 17q21.31 locus resolves ANKRD1 as a convergent regulatory target [0.03%]
17q21.31位点的变异-功能解析鉴定出ANKRD1是共同调控靶标
Oyedele J Olaoye,Sophie L Farrow,Antony A Cooper et al.
Oyedele J Olaoye et al.
Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis [0.03%]
全面鉴定和验证NR5A1和DHX37变异对46,XY性发育 disorder诊断的影响
Cui Li,Binyu Yang,Xu Li et al.
Cui Li et al.
Background: The clinical phenotype and pathogenic mechanism of 46,XY disorders of sex development (DSD) are complex, and several pathogenic variants are identified by next-generation sequencing. However, these variants cu...
Levers and constraints on general practitioners offering and managing reproductive genetic carrier screening in Australian primary care: a rich graphic of the complex context [0.03%]
澳大利亚初级保健中全科医生提供和管理生殖遗传携带者筛查的机遇与局限：复杂背景下的情境综述
Maryam Vizheh,Klay Lamprell,Michaela Cormack et al.
Maryam Vizheh et al.
Reproductive genetic carrier screening (RGCS) identifies people who have an increased chance of having a child with a serious genetic condition. In Australia, since November 2022, RGCS for three conditions, cystic fibrosis, spinal muscular ...