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
Codon usage bias analysis of mitochondrial protein-coding genes in 12 species of Candida [0.03%]
盘囊菌属十二种基因密码子使用偏爱性分析
Fen Wang,Nan Zhang,Chunling Zhao et al.
Fen Wang et al.
The incidence of diseases that are caused by fungal infection is gradually increasing, together with antibiotic abuse and the number of patients with hypoimmunity. The many challenges in clinical anti-fungi treatment include serious adverse...
Genome sequencing and characterization of microsatellite markers of Pterocarpus santalinus L.f.: an economically important endangered tree of Eastern Ghats, India [0.03%]
印度东部丘陵地区经济重要且濒危的植物红木（Pterocarpus santalinus L.f.）基因组测序及其微卫星标记特征分析
M V Sneha,A H Madhushree,S Tapas Ranjan et al.
M V Sneha et al.
Pterocarpus santalinus L.f. (red sanders) is an endemic, endangered and economically important tree species distributed in the Eastern Ghats of Andhra Pradesh, India. This tree is well known for its blood-red coloured timber which has a hig...
Detecting disease association with rare variants using weighted entropy [0.03%]
基于加权熵的稀有变异与疾病关联检测方法研究
Yu-Mei Li,Yang Xiang
Yu-Mei Li
The rapid development of sequencing technology and simultaneously the availability of large quantities of sequence data provide an unprecedented opportunity for researchers to conduct studies to detect rare variants associated with the dise...
Diversification of three TaSOS1 genes and their roles in sodium exclusion in bread wheat (Triticum aestivum L.) [0.03%]
三个TaSOS1基因的分化及其在普通小麦钠离子排除中的作用
Zhenxian Gao,Wenlong Yang,Qiao Cao et al.
Zhenxian Gao et al.
The ability to exclude sodium from the shoot is a crucial feature of salinity tolerance in bread wheat (Triticum aestivum L.). The plasma membrane sodium/proton exchanger salt-overly-sensitive 1 (SOS1) is a critical Na+. efflux protein in p...
Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates [0.03%]
土耳其先天性转化酶-isomaltase缺乏症的发病率可能远高于估计数值
Didem Gulcu Taskin,Hasret Ayyildiz Civan,Emine ErgüL Sari et al.
Didem Gulcu Taskin et al.
Congenital sucrase-isomaltase deficiency (CSID) is a rare autosomal carbohydrate malabsorption disorder caused by mutations in the sucrase-isomaltase gene. While the prevalence of CSID is high in the indigenous populations of Alaska and Gre...
Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia [0.03%]
人类染色体隐蔽重排在精神分裂症发病机制中的作用
Livia Jurisova,Roman Solc
Livia Jurisova
Schizophrenia (SZ) is a highly inherited disease that affects ~0.5% of the population. The genetic and environmental factors are involved in its aetiology and they interact with each other. Combination of symptoms is unique to each patient,...