A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro [PDF]
Italian Journal of PediatricsBackground 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 +5 more
doaj +2 more sources
A missense mutation in Lama3 causes androgen alopecia. [PDF]
Sci Rep, 2023 AbstractHair loss disorders such as androgenetic alopecia have caused serious disturbances to normal human life. Animal models play an important role in exploring pathogenesis of disease and evaluating new therapies. NIH hairless mice are a spontaneous hairless mouse discovered and bred in our laboratory.
Ji ZH +6 more
europepmc +4 more sources
Two Frequent Missense Mutations in Pendred Syndrome [PDF]
Human Molecular Genetics, 1998 Pendred syndrome is an autosomal recessive disorder characterized by early childhood deafness and goiter. A century after its recognition as a syndrome by Vaughan Pendred, the disease gene ( PDS ) was mapped to chromosome 7q22-q31.1 and, recently, found to encode a putative sulfate transporter. We performed mutation analysis of the PDS gene in patients
Peter Van Hauwe +17 more
openalex +6 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
Different outcome of sarcoglycan missense mutation between human and mouse [PDF]
, 2018 Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycan (α, β, δ, and γ-sarcoglycans).
Henriques, Sara F. +6 more
core +24 more sources
ThermoMutDB: a thermodynamic database for missense mutations [PDF]
Nucleic Acids Research, 2020 Abstract Proteins are intricate, dynamic structures, and small changes in their amino acid sequences can lead to large effects on their folding, stability and dynamics. To facilitate the further development and evaluation of methods to predict these changes, we have developed ThermoMutDB, a manually curated database containing >14,
Pâmela M Rezende +12 more
openaire +4 more sources
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 +9 more
doaj +1 more source
Novel missense and frameshift mutations in the adrenoleukodystrophy gene [PDF]
Japanese Journal of Human Genetics, 1996 Hisao Ueyama +3 more
openalex +4 more sources
Packpred: Predicting the functional effect of missense mutations [PDF]
Frontiers in Molecular Biosciences, 2021 1.AbstractPredicting the functional consequences of single point mutations has relevance to protein function annotation and to clinical analysis/diagnosis. We developed and tested Packpred that makes use of a multi-body clique statistical potential in combination with a depth dependent amino acid substitution matrix (FADHM) and positional Shannon ...
Kwoh Chee Keong +4 more
openaire +7 more sources