Results 1 to 10 of about 151,372 (221)

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

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, Lorraine A. Everett, Paul Coucke, Daryl A. Scott, Michelle L. Kraft, Carrie Ris‐Stalpers, Cuny Bolder, B.J. Otten, Jan J. M. de Vijlder, Nicole Dietrich, A. Ramesh, S. C. R. Srisailapathy, Agnete Parving, C. W. R. J. Cremers, Patrick J. Willems, Richard J. Smith, Eric D. Green, Guy Van Camp   +17 more
openalex   +6 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, Ren WZ, He S, Wu HY, Yuan B, Chen J, Jin HJ.   +6 more
europepmc   +4 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

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, Thanh Binh Nguyen, Malancha Karmarkar, Malancha Karmarkar, Douglas E. V. Pires, Douglas E. V. Pires, Joicymara S Xavier, João P L Velloso, David B. Ascher, David B. Ascher, David B. Ascher, Stephanie Portelli, Stephanie Portelli   +12 more
openaire   +4 more sources

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

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, Tejashree Rajaram Kanitkar, Mallur S. Madhusudhan, Mallur S. Madhusudhan, Kuan Pern Tan   +4 more
openaire   +8 more sources

Missense mutations in DYT-TOR1A dystonia [PDF]

Neurology Genetics, 2019
DYT-TOR1A dystonia is caused by dominant mutations in the TOR1A gene, most frequently a heterozygous in-frame deletion in exon 5 (c.904_906delGAG; p.302/303delE).1 The most frequent phenotype has childhood onset in a limb, spreading to generalized dystonia within a few years.
Zafar Iqbal, Jeanette Koht, Lasse Pihlstrøm, Sandra P. Henriksen, Chiara Cappelletti, Michael Bjørn Russel, Osmar Norberto de Souza, Inger Marie Skogseid, Mathias Toft   +8 more
openaire   +7 more sources

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