Brian C Jackson,Christopher Carpenter,Daniel W Nebert et al.
Brian C Jackson et al.
The forkhead box (FOX) proteins are transcription factors that play complex and important roles in processes from development and organogenesis to regulation of metabolism and the immune system. There are 50 FOX genes in the human genome an...
Rital B Bhavsar,Leah N Makley,Panagiotis A Tsonis
Rital B Bhavsar
Despite the fact that ribosomal proteins are the constituents of an organelle that is present in every cell, they show a surprising level of regulation, and several of them have also been shown to have other extra-ribosomal functions, such ...
Gene-environment interaction tests for family studies with quantitative phenotypes: A review and extension to longitudinal measures [0.03%]
定量表型家系研究的基因-环境交互作用分析：综述与纵向数据方法拓展
Hortensia Moreno-Macias,Isabelle Romieu,Stephanie J London et al.
Hortensia Moreno-Macias et al.
Longitudinal studies are an important tool for analysing traits that change over time, depending on individual characteristics and environmental exposures. Complex quantitative traits, such as lung function, may change over time and appear ...
Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene [0.03%]
人生长激素(GH1)基因的功能内含子多态性特征分析
David S Millar,Martin Horan,Nadia A Chuzhanova et al.
David S Millar et al.
The +1169A allele of the A/T single nucleotide polymorphism (SNP; rs2665802), located within intron 4 of the human growth hormone 1 ( GH1 ) gene, has been associated with reduced levels of circulating GH and insulin-like growth factor 1, a ...
Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes [0.03%]
内含子多态性：我们基因中等待发现的宝藏
David N Cooper
David N Cooper
The Human Cytochrome P450 (CYP) Allele Nomenclature website: a peer-reviewed database of CYP variants and their associated effects [0.03%]
人类细胞色素P450（CYP）等位基因命名网站：一个同行评审的CYP变异及其相关影响的数据库
Sarah C Sim,Magnus Ingelman-Sundberg
Sarah C Sim
Pharmacogenetics affects both pharmacokinetics and pharmacodynamics, thereby influencing an individual's response to drugs, both in terms of response and adverse reactions. Within the area of pharmacogenetics, findings of genetic variation ...
State of the art de novo assembly of human genomes from massively parallel sequencing data [0.03%]
从大规模并行测序数据进行人类基因组从头拼接的最新技术
Yingrui Li,Yujie Hu,Lars Bolund et al.
Yingrui Li et al.
Recent studies in human genomes have demonstrated the use of de novo assemblies to identify genetic variations that are difficult for mapping-based approaches. Construction of multiple human genome assemblies is enabled by massively paralle...
Shivalingappa K Swamynathan
Shivalingappa K Swamynathan
Krüppel-like factors (KLFs), members of the zinc-finger family of transcription factors capable of binding GC-rich sequences, have emerged as critical regulators of important functions all over the body. They are characterised by a highly ...
Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder [0.03%]
高血清铁蛋白性白内障综合征：一种遗传性疾病的全球突变和表型特征（该疾病诊断频次不断增加）
Gunda Millonig,Martina U Muckenthaler,Sebastian Mueller
Gunda Millonig
The hereditary hyperferritinaemia-cataract syndrome (HHCS) is characterised by an autosomal dominant cataract and high levels of serum ferritin without iron overload. The cataract develops due to L-ferritin deposits in the lens and its pulv...
The clinical application of UGT1A1 pharmacogenetic testing: gene-environment interactions [0.03%]
UGT1A1药物基因检测的临床应用：基因-环境相互作用
Sara Correia Marques,Ogechi N Ikediobi
Sara Correia Marques
Over the past decade, the number of pharmacogenetic tests has increased considerably, allowing for the development of our knowledge of their clinical application. The uridine diphosphate glucuronosyltransferase 1A1 gene ( UGT1A1 ) assay is ...