Results 1 to 10 of about 176,215 (308)

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.
Weiling Huang
exaly   +3 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

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

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

Identification of a Tumor Specific, Active-Site Mutation in Casein Kinase 1α by Chemical Proteomics. [PDF]

PLoS ONE, 2016
We describe the identification of a novel, tumor-specific missense mutation in the active site of casein kinase 1α (CSNK1A1) using activity-based proteomics.
Eric S Okerberg, Anna Hainley, Heidi Brown, Arwin Aban, Senait Alemayehu, Ann Shih, Jane Wu, Matthew P Patricelli, John W Kozarich, Tyzoon Nomanbhoy, Jonathan S Rosenblum   +10 more
doaj   +1 more source

A pathological missense mutation in the deubiquitinase USP5 leads to insensitivity to pain [PDF]

Journal of Experimental Medicine
Agustin Garcia-Caballero, Flavia Tasmin Techera Antunes, Maria A Gandini   +2 more
exaly   +2 more sources

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

Biomedicines, 2022
Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 POLR3A (NM_007055.3)
Antonino Musumeci, Francesco Calì, Carmela Scuderi, Mirella Vinci, Girolamo Aurelio Vitello, Sebastiano Antonino Musumeci, Valeria Chiavetta, Concetta Federico, Greta Amore, Salvatore Saccone, Gabriella Di Rosa, Antonio Gennaro Nicotera   +11 more
doaj   +1 more source