Results 111 to 120 of about 1,974,376 (233)

Towards a Compositional Framework for Describing Human Phenotypes

Advanced Science, EarlyView.
The Phenotype Assembly Method (PhenoAM) decomposes phenotype variables into measurable Features and typed Qualifiers, enabling standardized, machine‐readable Phenome Data Elements (PhenoDEs) that preserve measurement context. Applied in the International Human Phenome Project (IHPP), the framework yields 58 371 PhenoDEs and supports component‐level ...
Wanting Hu, Yunchao Ling, Xinyue Hu, Wei Chen, Rong Zhou, Xinhao Zhuang, Yanfeng Jiang, Jialu Zhao, Xingdong Chen, Jingchun Luo, Li Jin, Guoqing Zhang   +11 more
wiley   +1 more source

Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout.

PLoS ONE, 2014
ObjectiveUsing European descent Czech populations, we performed a study of SLC2A9 and SLC22A12 genes previously identified as being associated with serum uric acid concentrations and gout.
Olha Hurba, Andrea Mancikova, Vladimir Krylov, Marketa Pavlikova, Karel Pavelka, Blanka Stibůrková   +5 more
doaj   +1 more source

Functional validation of spliceogenic COL4A3 and COL4A4 variants by minigene assays refines molecular diagnosis of Alport syndrome

Human Genomics
Background Alport syndrome (AS) is a hereditary progressive kidney disease caused by pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes. Aberrant pre-mRNA splicing represents a major disease mechanism in AS, and both synonymous and intronic ...
Lina Wang, Zhi Wang, Yan Zhao, Xuyan Liu, Qiaomei Cui, Shuimi Zhang, Ran Zhang, Leping Shao   +7 more
doaj   +1 more source

Comparison of synonymous and non-synonymous substitutions inside and outside of the V1 Nab epitope region.

, 2012
aP-value from one-sided Fisher's exact test.bOdds ratio.c95% confidence interval.d,eNumber of nucleotide sequence variants with mutated sites inside the V1 epitope region, where synonymous substitution rate exceeds non-synonymous substitution rate, and ...
Hua-Xin Liao (161409), Julie M. Decker (161386), Sarah Sterrett (161415), Mattia Bonsignori (161398), Xi Chen (35903), Hui Li (32376), Peter Hraber (140255), Jeffrey W. Pavlicek (161418), Chun-yen Tsao (161373), William Fischer (161412), Ivelin Georgiev (145557), Feng Gao (3548), Shuyi Wang (140141), Bette T. Korber (140148), Kwan-Ki Hwang (161404), Katharine J. Bar (161364), Shilpa S. Iyer (161380), Peter D. Kwong (161423), Alan S. Perelson (140160), Barton F. Haynes (140266), Yongping Yang (161393), Brandon F. Keele (50342), Beatrice H. Hahn (50363), David C. Montefiori (108747), Jason S. McLellan (161417), Vitaly V. Ganusov (142019), George M. Shaw (50361)   +26 more
core   +1 more source

Transposable Element Dynamics Drive the Genomic Evolution and Phenotypic Diversification of Allotetraploid Common Carp

Advanced Science, EarlyView.
By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu, Zhou Jiang, Lin Chen, Gowena Ling Yi Goh, Weijing Li, Qian He, Xintong Chen, Rui Li, Yuxuan Liu, Ning Li, Tao Zhou, Peng Xu   +11 more
wiley   +1 more source

Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy)

BMC Ophthalmology, 2015
BackgroundChloroquine (CQ) and hydroxychloroquine (HCQ) are used to treat auto-immune related diseases such as rheumatoid arthritis (RA) or systemic lupus erythematosus.
F. Grassmann, R. Bergholz, J. Mandl, Herbert Jägle, K. Ruether, B. Weber   +5 more
semanticscholar   +1 more source

Non-synonymous somatic variants identified in HCLc tumour exomes.

, 2016
Non-synonymous somatic variants identified in HCLc tumour exomes.
Will Tapper (1806109), Yurany Moreno (1806118), Hanneke C. Kluin-Nelemans (517486), Dean Bryant (1806106), Sarah Ennis (435142), Melford John (1806112), Jane Gibson (497328), Andrew R. Collins (1806115), Nicola J. Weston-Bell (517484), Surinder S. Sahota (517487)   +9 more
core  

Dual Repression by IPA1 Fine‐Tunes OsbZIP79‐Mediated Salt Tolerance in Rice

Advanced Science, EarlyView.
Dual repression by IPA1 fine‐tunes OsbZIP79‐mediated salt tolerance in rice: direct transcriptional inhibition under normal conditions and salt‐induced degradation under stress. This dual mechanism activates OsbZIP79 to regulate Na+/K+ homeostasis and redox balance via downstream genes, enabling optimal salt stress response.
Hui Wang, Bo Liu, Can Hu, Chenfan Zheng, Yuting Wei, Xier Xu, Wei Yang, Yu Fang, Guangle Shen, Pedro García‐Caparros, Conghe Zhang, Qingyao Shu, Meng Jiang   +12 more
wiley   +1 more source

Mutation screen and association studies in the Diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13

BMC Genetics, 2007
Background DGAT2 is a promising candidate gene for obesity because of its function as a key enzyme in fat metabolism and because of its localization on chromosome 11q13, a linkage region for extreme early onset obesity detected in our sample.
Platzer Matthias, Meitinger Thomas, Wabitsch Martin, Koberwitz Kerstin, Fries Hans-Rudolf, Wermter Anne-Kathrin, Brumm Harald, Scherag André, Reichwald Kathrin, Friedel Susann, Biebermann Heike, Hinney Anke, Hebebrand Johannes   +12 more
doaj   +1 more source

Synonymous Variants: Necessary Nuance in our Understanding of Cancer Drivers and Treatment Outcomes.

Journal of the National Cancer Institute, 2022
Nayiri M. Kaissarian, Douglas Meyer, C. Kimchi-Sarfaty   +2 more
semanticscholar   +1 more source