Results 141 to 150 of about 1,506,824 (383)

Clinical Characteristics of Subjects with a Missense Mutation in Glucokinase

Diabetic Medicine, 1995
The clinical characteristics of subjects with a missense glucokinase mutation, gly299→arg, were studied in a large pedigree, BX, initially characterized by some members having Maturity Onset Diabetes of the Young (MODY). Glucose tolerance, beta cell function and insulin sensitivity were measured with Homeostasis Model Assessment (HOMA) and with a ...
Page, R, Hattersley, A, Levy, J, Barrow, B, Patel, P, Lo, D, Wainscoat, J, Permutt, M, Bell, G, Turner, R   +9 more
openaire   +3 more sources

MALMPS: A Machine Learning‐Based Metabolic Gene Prognostic Signature for Stratifying Clinical Outcomes and Molecular Heterogeneity in Stage II/III Colorectal Cancer

Advanced Science, EarlyView.
Chen et al. identified a metabolic gene prognostic signature with machine‐learning framework and assessed the prognostic value in independent CRC cohorts. The metabolic signature subtypes are characterized by specific metabolic and proteomic characteristics, and associated with distinct molecular pathway and therapeutic potential.
Hao Chen, Ze Wang, Chenglong Sun, Yang Zhong, Yuan Liu, Yikun Li, Tongchao Zhang, Yuan Zhang, Xingyu Zhu, Leping Li, Feifei Teng, Ming Lu, Wei Chong   +12 more
wiley   +1 more source

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia

Human Mutation, 2012
Autosomal recessive ataxias are heterogeneous group of disorders characterized by cerebellar atrophy and peripheral sensorimotor neuropathy. Molecular characterization of this group of disorders identified a number of genes contributing to these ...
Nada Al Tassan, Dania S. Khalil, Jameela M A Shinwari, Latifa J Al Sharif, P. Bavi, Z. Abduljaleel, Nada Abu Dhaim, Amna I. Magrashi, Steve Bobis, Hala A Ahmed, S. AlAhmed, S. Bohlega   +11 more
semanticscholar   +1 more source

Human Schlafen 14 Cleavage of Short Double‐Stranded RNAs Underpins its Antiviral Activity

Advanced Science, EarlyView.
SLFN14 is associated with human diseases. SLFN14 is found to cleave RNAs containing short duplexes. The cryo‐EM structures of SLFN14 and SLFN14‐hairpin RNA complex reveal that SLFN14 assembles into a ring‐like dimer; two RNase domains form an RNA‐binding groove accommodating a hairpin RNA.
Mengyun Li, Dapeng Sun, Wei Hao, Hua Fu, Yueli Zhang, Zhijian Li, Bo Qin, Yumei Wang, Sheng Cui   +8 more
wiley   +1 more source

α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies

Brazilian Journal of Cardiovascular Surgery, 2015
α-smooth muscle actin, encoded by ACTA2 gene, is an isoform of the vascular smooth muscle actins, typically expressed in the vascular smooth muscle cells contributing to vascular motility and contraction. ACTA2 gene mutations cause a diversity of diffuse
Shi-Min Yuan
doaj   +1 more source

Inhibiting FAT1 Blocks Metabolic Bypass to Enhance Antitumor Efficacy of TCA Cycle Inhibition through Suppressing CPT1A‐Dependent Fatty Acid Oxidation

Advanced Science, EarlyView.
This study demonstrates that mutant FAT1 promotes ASCL2‐driven, CPT1A‐dependent fatty acid oxidation, leading to resistance to CPI‐613‐mediated TCA cycle inhibition in head and neck cancer. In vivo gene depletion of mutant FAT1 with LNP‐sgFAT1 suppresses tumor growth and restores CPI‐613 sensitivity, revealing a targetable metabolic bypass with ...
Fanghui Chen, Jianqiang Yang, David O. Popoola, Fan Yang, Yajie Liu, Dongsheng Wang, Zhaohui S. Qin, Zhengjia Chen, Nabil F. Saba, Zhuo G. Chen, Yamin Li, Yong Teng   +11 more
wiley   +1 more source

A companion to the preclinical common data elements for rodent genetic epilepsy models. A report of the TASK3‐WG1B: Paediatric and genetic models working group of the ILAE/AES joint translational TASK force

Epilepsia Open, EarlyView., 2022
Abstract Rodent models of epilepsy remain the cornerstone of research into the mechanisms underlying genetic epilepsy. Reproducibility of experiments using these rodent models, occurring across a diversity of laboratories and commercial vendors, remains an issue impacting the cost‐effectiveness and scientific rigor of the studies performed.
Massimo Mantegazza, Stėphane Auvin, Melissa Barker‐Haliski, Anna‐Maria Katsarou, Hana Kubova, Aristea S. Galanopoulou, Bridgette Semple, Christopher A. Reid   +7 more
wiley   +1 more source

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension

Respiratory Research, 2009
Background Autosomal dominant inheritance of germline mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene are a major risk factor for pulmonary arterial hypertension (PAH). While previous studies demonstrated a difference in severity
Wheeler Lisa A, Phillips Charles A, Stanton Krista C, Yu Chang, Hamid Rizwan, Cogan Joy D, Phillips John A, Austin Eric D, Robbins Ivan M, Newman John H, Loyd James E   +10 more
doaj   +1 more source

Comprehensive Characterization of the Immune Microenvironment Based on Nested Resampling Machine Learning Framework Identifies TRAF3 Interacting Protein 3 as a Promising Regulator to Improve the Resistance to Immunotherapy in Glioma

Advanced Science, EarlyView.
This study develops a nested resampling machine learning framework to establish the Immune Glioma Survival Signature (IGLoS), which stratifies glioma patients and predicts immunotherapy resistance. Multi‐omics analyses reveal TRAF3IP3 as a pivotal regulator of PD‐L1 expression and T‐cell exhaustion via ERK‐NFATC2 signaling.
Yanbo Yang, Fei Wang, Yulian Zhang, Run Huang, Chuanpeng Zhang, Lu Zhao, Hanhan Dang, Xinyu Tao, Yue Lu, Dengfeng Lu, Yunsheng Zhang, Kun He, Jiancong Weng, Zhouqing Chen, Zhong Wang, Yanbing Yu   +15 more
wiley   +1 more source

A novel missense-mutation-related feature extraction scheme for 'driver' mutation identification

Bioinform., 2012
MOTIVATION It becomes widely accepted that human cancer is a disease involving dynamic changes in the genome and that the missense mutations constitute the bulk of human genetic variations.
Hua Tan, Jiguang Bao, Xiaobo Zhou
semanticscholar   +1 more source