Results 191 to 200 of about 1,544,422 (378)

iGEMME Missense Mutational Effect Predictions for Entire Human Proteome

, 2023
Mustafa Tekpinar, Laurent David, Thomas Henry, Alessandra Carbone   +3 more
openalex   +1 more source

Gene Mapping and Identification of a Missense Mutation in One Copy of VRN-A1 Affects Heading Date Variation in Wheat [PDF]

, 2023
Qianwen Xue, Hongchun Xiong, Chunyun Zhou, Huijun Guo, Linshu Zhao, Yongdun Xie, Jiayu Gu, Shirong Zhao, Yuping Ding, Le Xu, Luxiang Liu   +10 more
openalex   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish [PDF]

, 2017
Gao, Meng, Hu, Xuebin, Jiang, Tao, Li, Chang, Liu, Fei, Liu, Jing Yu, Liu, Mugen, Liu, Xiliang, Lu, Zhaojing, Shu, Xinhua, Soares, Dinesh C., Tang, Zhaohui, Weng, Jun, Xiao, Qing, Yang, Lifang, Yu, Shanshan   +15 more
core   +1 more source

Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation [PDF]

, 2018
Reem Deeb, Aravindhan Veerapandiyan, Rabi Tawil, Simona Treidler   +3 more
openalex   +1 more source

Improving Genotype Imputation in High‐Dimensional Pharmacogenomics Using Multiple Imputation: Evaluation with Machine Learning Approaches

Clinical Pharmacology &Therapeutics, EarlyView.
Multiple imputation is well‐established for handling missing data, yet its use in high‐dimensional genetic datasets remains limited. Using pharmacokinetic tuberculosis simulations and SNP data (1000 Genomes Project), we compared machine learning (ML) and traditional approaches (e.g., mean imputation and complete‐case analysis) for imputation and ...
Innocent G. Asiimwe, Tao You, Daniel F. Carr, Munir Pirmohamed, Geraint Davies, Andrea L. Jorgensen, on behalf of the UNITE4TB Consortium   +6 more
wiley   +1 more source

Missense Mutation [PDF]

, 2020
openaire   +1 more source

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

Genotype-Phenotype Correlation in Ocular von Hippel-Lindau (VHL) Disease: The Effect of Missense Mutation Position on Ocular VHL Phenotype [PDF]

, 2010
Pradeep Mettu, Elvira Agrón, Sonia Samtani, Emily Y. Chew, Wai T. Wong   +4 more
openalex   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source