Results 1 to 10 of about 1,544,422 (378)

Missense Mutation [PDF]

Definitions, 2019
J. W. Gooch
semanticscholar   +4 more sources

A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro [PDF]

Italian Journal of Pediatrics
Background Pyruvate dehydrogenase (PDH) deficiency is an uncommon condition responsible for primary refractory lactic acidosis, and PDH E1β (PDHB) subunit gene mutation rarely causes of PDH deficiency.
Ying Li, Lin Cheng, Xin Li, Jiyu Liu, Lu Yi, Tao Bo   +5 more
doaj   +2 more sources

LHCGR Missense Mutation [PDF]

Definitions, 2020

semanticscholar   +2 more sources

Study on tumour suppressor gene TP53 mutation and prognosis in patients with triple-negative breast cancer [PDF]

Waike lilun yu shijian, 2022
Objective To investigate tumour suppressor gene TP53 mutation, clinicopathological features and prognosis in the patients with triple-negative breast cancer (TNBC).
YANG Cuiyan, WANG Haoyu, CHEN Xiaosong, SHEN Kunwei
doaj   +1 more source

In Silico Approach for Prediction of the Structural and Functional Impacts of 184(T>C) Missense Mutation Identified in BRCA1 Gene in a Syrian Breast Cancer Patient [PDF]

Middle East Journal of Cancer, 2020
Background: The classification of genetic variations depending on their clinical impacts is highly relevant for clinical decision-making. Therefore, predicting the effects of missense mutations using in silico tools has become a frequently employed ...
Husam Khalil
doaj   +1 more source

A missense mutation in ISPD contributes to maintain muscle fiber stability

Poultry Science, 2022
: Background: Livestock and poultry skeletal muscle development was regulated by a variety of genetic factors playing an essential role in this process.
Lijin Guo, Siyu Zhang, Yibin Xu, Yulin Huang, Wei Luo, Qi Wen, Guanxuan Liu, Weiling Huang, Haiping Xu, Biao Chen, Qinghua Nie   +10 more
doaj   +1 more source

Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet–Biedl Syndrome Type I (BBS1) due to Missense Mutation

Frontiers in Genetics, 2022
Conventionally, protein features affected by missense mutation was attributed to destroy an important domain with amino acid alternation, and it was difficult to clearly specify the pathogenicity of a novel missense mutation.
Kai Yan, Kai Yan, Yixi Sun, Yixi Sun, Yanmei Yang, Yanmei Yang, Bei Liu, Bei Liu, Minyue Dong, Minyue Dong   +9 more
doaj   +1 more source

Generation of gene edited hiPSC from familial Alzheimer's disease patient carrying N141I missense mutation in presenilin 2

Stem Cell Research, 2021
Alzheimer's disease (AD) is the major cause of dementia worldwide. Early-onset familial AD accounts for about 0.5% of all AD and is caused by single major gene mutations and autosomal dominant inheritance.
Hany E. Marei, Asmaa Althani, Nahla Afifi, Anwarul Hasan, Thomas Caceci, Giacomo Pozzoli, Carlo Cenciarelli   +6 more
doaj   +1 more source

Elastin genetic point mutation and the risk of pelvic organ prolapse

Clinical and Experimental Obstetrics & Gynecology, 2020
Aim: A missense mutation in the elastin gene (g28197A > G) is associated with an increased risk for inguinal hernias. Due to the shared epidemiological and pathophysiological features between pelvic organ prolapse (POP) and inguinal hernias, the authors ...
N. Haya, I. Feferkorn, F. Fares, N. Azzam, R. Auslender, Y. Abramov   +5 more
doaj   +1 more source

TOX3 mutations in breast cancer [PDF]

, 2013
TOX3 maps to 16q12, a region commonly lost in breast cancers and recently implicated in the risk of developing breast cancer. However, not much is known of the role of TOX3 itself in breast cancer biology.
Caldas, Carlos, Chin, Suet-Feung, Jones, James Owain, Leaford, Donna, Maia, Ana Teresa, Ponder, Bruce A. J., Wong-Taylor, Li-An   +6 more
core   +11 more sources