Consensus-based detection of aetiologic copy number variants for syndromic orofacial clefts utilising whole exome sequencing of case parent trios [0.03%]
利用外显子组测序的病例父母 trio检测病因拷贝数变异以达成综合征性唇腭裂诊断共识
Samuel Kanor Quaynor,Gideon Okyere Mensah,Tamara Busch et al.
Samuel Kanor Quaynor et al.
Background: Orofacial clefts (OFCs) are the most common craniofacial congenital anomalies, with complex aetiology involving both genetic and environmental factors. Most genetic studies on the condition have focused on the...
Single nuclear RNA sequencing shows altered microglial and astrocytic functions in post-mortem Parkinson's disease tissue [0.03%]
单核RNA测序显示帕金森病死亡组织中小胶质细胞和星形胶质细胞功能改变
Indra Roy,Michael Fiorini,Rhalena A Thomas et al.
Indra Roy et al.
Background: Parkinson's disease (PD) is a neurodegenerative disease marked by a progressive loss of dopaminergic neurons in the substantia nigra pars compacta (SNpc) and formation of misfolded protein aggregates. A growin...
Complete genome sequence of a Methylomonas sp. nov. 2F7 isolated from rice paddy soil in South Korea [0.03%]
取自韩国水稻土的甲基单胞菌新物种2F7的完成体基因组序列
Ye Jin Gwak,Sang Eun Jeong,Si Chul Kim et al.
Ye Jin Gwak et al.
Objective: This Data Note reports the complete genome sequence and associated functional-genomic data of Methylomonas sp. strain 2F7, a methane-oxidizing bacterium isolated from rice paddy soil in South Korea. These data ...
Complete genome sequence of Litorivicinus marinus strain IMCC2782T isolated from coastal seawater [0.03%]
沿海海水分离的Litorivicinus marinus IMCC2782T菌株的完整基因组序列
Meora Rajeev,Yeonjung Lim,Ilnam Kang et al.
Meora Rajeev et al.
Objectives: Members of the genus Litorivicinus are marine heterotrophic bacteria with limited genomic representation, constraining our understanding of their taxonomic diversity, metabolic capabilities, and ecological rol...
Complete genome sequence of Streptomyces californicus ADR1, an anti-infective, anti-biofilm and anti-oxidant producing endophyte isolated from the medicinal plant Datura metel [0.03%]
来自药用植物天仙子中抗感染、抗生物膜和抗氧化产生内生菌的完全基因组序列
Khushboo Yadav,Sarika Phogat,Varsha Verma et al.
Khushboo Yadav et al.
Objective: Streptomyces californicus strain ADR1 is an endophytic actinobacterium isolated from Datura metel that produces secondary metabolites with potent antibacterial and anti-biofilm activities against WHO-listed hig...
Whole genome sequence of a superbug-Escherichia coli strain KAB-AI-497 isolated from the vagina of a 20 year old pregnant woman with premature rupture of membrane (PROM) in a resource limited setting, Kabale Regional Referral Hospital, in Uganda [0.03%]
从乌干达卡巴莱地区转诊医院资源限制环境下一名20岁胎膜早破孕妇阴道中分离的超级细菌-Escherichia coli菌株KAB-AI-497基因组序列
Ismail Abiola Adebayo,Leila Abdukadir Abdullahi,Chrispuss Ngabirano et al.
Ismail Abiola Adebayo et al.
Objectives: The objective of the study is to sequence the whole genome of multidrug resistant E. coli strain KAB-AI-497 that causes bacterial vaginosis and implicated in premature rupture of membrane in pregnant woman. ...
Conrad Oakes,Lior Pachter
Conrad Oakes
The bio-molecular changes of exercise, and how to best optimize them for improved performance, are an important human health research question. A recent study by the Molecular Transducers of Physical Activity Consortium (MoTrPAC) used a coh...
Chromosome-level assembly and annotation of the Jaguar (Panthera onca) genome [0.03%]
豹子基因组的染色体水平组装和注释
Fernando Cruz,Jèssica Gómez-Garrido,Anna Vlasova et al.
Fernando Cruz et al.
Objectives: The Jaguar (Panthera onca) is a large cat species native to the Americas. Despite being successful predators, jaguar populations have declined due to habitat loss. Genome resources can help in conservation eff...
A candidate-variant association study of self-reported asthma in mothers of the Cebu Longitudinal Health and Nutrition Survey (CLHNS) cohort [0.03%]
一项关于宿务纵向健康与营养调查队列中自述哮喘母亲的候选变异关联研究
Alvin E Lirio,Jing Chen,Paulita Duazo et al.
Alvin E Lirio et al.
Background: Asthma is an obstructive respiratory disease with greatest morbidity in low- and middle-income countries: 15% of the Filipino population are estimated to have asthma, half of whom have inadequately controlled ...
Identification of high-risk SNPs in SLC22A transporter genes: their potential role in PCOS and metformin uptake [0.03%]
SLC22A转运子基因高风险SNP的鉴定及其在PCOS和二甲双胍摄取中的潜在作用
R Harini,B Usha,R Satish et al.
R Harini et al.
Polycystic ovary syndrome is a prevalent, heterogeneous endocrine and metabolic disorder affecting approximately 10% of women of reproductive age, often characterized by hyperandrogenism, anovulation, and insulin resistance. Metformin, a fi...