Indigenous population genome databases for India and South Asia: emerging need for health and social applications [0.03%]
印度和南亚的土著人口基因组数据库：健康和社会应用的新兴需求
Dhavendra Kumar
Dhavendra Kumar
With increased technological sophistication and rapidly reducing costs, currently, a huge amount of personal and populationlevel human genomic data and information is generated globally. There is an urgent need for an adequately curated and...
Review
Journal of genetics. 2023:102:46. DOI: 2023
A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review [0.03%]
伊朗一个家族中的新生METTL5突变导致与原发性小头畸形相关的智力障碍：临床特征和文献综述
Fatemeh Shakarami,Zahra Nouri,Hossein Khanahmad et al.
Fatemeh Shakarami et al.
Intellectual disability (ID) is a highly heterogeneous disorder, affecting 1-3% of the world's population, which is associated with a significant disorder in cognitive development, adaptive functioning and behavioural problems in human life...
Review
Journal of genetics. 2023:102:45. DOI: 2023
Molecular characterization of de novo ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies [0.03%]
新生儿21号环状染色体的分子表征：一名患有癫痫、生长迟缓和多种先天性畸形的儿童案例研究
Prafulla S Ambulkar,Thomas Liehr,Manish Jain et al.
Prafulla S Ambulkar et al.
The ring chromosome 21[r(21)] syndrome is a rare disorder, and mainly occurs as a de novo event. However, a wide variation of the phenotype has been reported in r(21) cases depending on breakpoints, loss of genetic material, and mosaicism o...
Population genetic analysis and scans for adaptation and contemporary selection footprints provide genomic insight into aus, indica and japonica rice cultivars diversification [0.03%]
基于群体遗传分析和适应性及当代选择印记扫描的水稻亚种基因组研究
Seyed Milad Vahedi,Moslem Momen,Seyedeh Fatemeh Mousavi et al.
Seyed Milad Vahedi et al.
Following domestication, rice cultivars have been spread worldwide to different climates and have experienced selection pressures to improve desirable traits. This has resulted in diverse cultivars that display variations in phenotypic trai...
In silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia [0.03%]
基于WGS数据的血型基因座群体基因分型研究——以马来西亚半岛的orang asli群体为例
Mercy Rophina,Teh Lay Kek,Sridhar Sivasubbu et al.
Mercy Rophina et al.
Differences in the distribution of RBC antigens defining the blood group types among different populations have been well established. Fewer studies exist that have explored the blood group profiles of indigenous populations worldwide. With...
Overexpression of microRNA-130a-3p suppresses glucose lipid levels and oxidative damage in diabetic retinopathy mice via modulating cell division cycle 42 [0.03%]
microRNA-130a-3p过表达通过调控细胞周期蛋白42抑制糖尿病视网膜病变小鼠的糖脂水平及氧化损伤
Hui Wang,Xu Dong,Jing Zhou et al.
Hui Wang et al.
MicroRNA (miR)-130a-3p has been unraveled to exert effects on diabetes. However, the research for probing its role in diabetic retinopathy (DR) is limited. Our study intends to unravel the regulatory effects of miR-130a-3p on DR development...
Mutation spectrum and enzyme profiling of G6PD deficiency in neonates of north India: a prospective study [0.03%]
印度北部新生儿G6PD缺乏症的突变谱和酶表型：一项前瞻性研究
Upasana Bhattacharyya,Preeti Deswal,Sunil Kumar Polipalli et al.
Upasana Bhattacharyya et al.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked disorder with well-established clinical and allelic heterogeneity and ethnic disparity. With ~390,000 annual births with G6PD deficiency in India, it emerges as the mo...
A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature [0.03%]
EIF2B5基因错义变异在罹患vanishing白质病的近亲婚配伊朗家系中的鉴定及文献综述
Parisa Nourmohammadi,Mostafa Asadollahi,Arezou Karamzade et al.
Parisa Nourmohammadi et al.
Vanishing of white matter (VWM) is a hereditary heterogeneous brain disorder that most often affects children. However, the onset of the disease varies from childhood to adulthood. VWM is caused by mutations in one of the five genes encodin...
Review
Journal of genetics. 2023:102:39. DOI: 2023
Comparative genetic diversity and structure of Rhus gall aphid Schlechtendalia chinensis and its host plant Rhus chinensis [0.03%]
中国盐肤木与其寄主盐肤木的遗传多样性及结构的比较研究
Zhumei Ren,Hongli He,Yang Zhang et al.
Zhumei Ren et al.
Investigating the population genetic structure of parasites and their host plants can provide valuable insights into their coevolutionary processes. In this study, we assessed and compared the population genetic diversity and structure of 1...
A homozygous missense variant in PTPN2 with early-onset Crohn's disease, growth failure and dysmorphic features in an infant: a case report [0.03%]
PTPN2基因错义纯合子变异导致婴儿早期克罗恩病、生长迟缓和特殊面容：一例报告
Johnny Awwad,Mirna Souaid,Tony Yammine et al.
Johnny Awwad et al.
Crohn's disease (CD) is a chronic idiopathic inflammatory bowel condition that can affect any part of the gastrointestinal tract. Several hundred candidate loci or genes including PTPN2 have been reportedly associated with CD. A whole-exome...
Case Reports
Journal of genetics. 2023:102:37. DOI: 2023