Results 61 to 70 of about 151,372 (221)
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. [PDF]
PLoS ONE, 2017 OBJECTIVE:N-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD).
Kai Gao +11 more
doaj +1 more source
A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family [PDF]
International Journal of OphthalmologyAIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.
Zhi-Bo Lin +6 more
doaj +1 more source
arXiv, 2023 A mutation cycle is a cycle in a graph whose vertices are labeled by the quivers in a given mutation class and whose edges correspond to single mutations. For any fixed $n\ge 4$, we describe arbitrarily long mutation cycles involving $n$-vertex quivers.
arxiv
Variable phenotypes are associated with PMP22 missense mutations
Neuromuscular Disorders, 2011 Charcot-Marie-Tooth disease (CMT) is the commonest hereditary neuropathy encompassing a large group of clinically and genetically heterogeneous disorders. The commonest form of CMT, CMT1A, is usually caused by a 1.4 megabase duplication of chromosome 17 containing the PMP22 gene. Mutations of PMP22 are a less common cause of CMT.
Matilde Laura +11 more
openaire +6 more sources
Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation
Molecular Genetics & Genomic Medicine, 2020 Background Fanconi anemia (FA) is a rare recessive disease characterized by DNA damage repair deficiency, and DNA polymerase δ (whose catalytic subunit is encoded by POLD1, also known as CDC2) is closely related to DNA damage repair.
Jing Liu +7 more
doaj +1 more source
Effect of the R569W Missense Mutation on the Biosynthesis of Myeloperoxidase [PDF]
Journal of Biological Chemistry, 1996 Human neutrophil microbicidal activity is largely mediated by reactive species generated by the oxygen-dependent myeloperoxidase (MPO) system. Peroxidase-negative neutrophils from many patients with hereditary MPO deficiency possess a 90-kDa MPO-related protein.
William M. Nauseef +2 more
openaire +3 more sources
BMC Medical Genetics, 2017 Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene.
Hye Ji Choi +7 more
doaj +1 more source
A Spatial Mutation Model with Increasing Mutation Rates [PDF]
arXiv, 2021 We consider a spatial model of cancer in which cells are points on the $d$-dimensional torus $\mathcal{T}=[0,L]^d$, and each cell with $k-1$ mutations acquires a $k$th mutation at rate $\mu_k$. We will assume that the mutation rates $\mu_k$ are increasing, and we find the asymptotic waiting time for the first cell to acquire $k$ mutations as the torus ...
arxiv
Predicting non-neutral missense mutations and their biochemical consequences using genome-scale homology modeling of human protein complexes [PDF]
arXiv, 2013 Computational methods are needed to differentiate the small fraction of missense mutations that contribute to disease by disrupting protein function from neutral variants. We describe several complementary methods using large-scale homology modeling of human protein complexes to detect non-neutral mutations.
arxiv
Pseudometabolic presentation of dystrophinopathy due to a missense mutation [PDF]
Muscle & Nerve, 2010 AbstractExercise intolerance with myalgia, muscle stiffness, and recurrent rhabdomyolysis due to mutations in the DMD gene can mimic metabolic myopathies leading to delayed or inaccurate diagnoses. In this retrospective chart review, we report 3 unrelated boys with exertional myalgia, muscle stiffness, myoglobinuria, and normal neurological examination
William Gallentine +5 more
openaire +3 more sources