Results 31 to 40 of about 1,404,124 (275)
Proceedings of the National Academy of Sciences of the United States of America, 2018 Significance Premature termination codons (PTCs) generated by nonsense mutations produce abnormal, short, or diminished proteins. Eighty-three percent of patients with Herlitz junctional epidermolysis bullosa (H-JEB), an inherited, incurable skin disease,
Vadim Lincoln +10 more
semanticscholar +1 more source
PAX6 mutations: genotype-phenotype correlations [PDF]
, 2005 BACKGROUND: The PAX6 protein is a highly conserved transcriptional regulator that is important for normal ocular and neural development. In humans, heterozygous mutations of the PAX6 gene cause aniridia (absence of the iris) and related developmental eye
Hanson, Isabel M +2 more
core +3 more sources
Nonsense mutation-dependent reinitiation of translation in mammalian cells
Nucleic Acids Research, 2019 In-frame stop codons mark the termination of translation. However, post-termination ribosomes can reinitiate translation at downstream AUG codons.
Sarit Cohen +5 more
semanticscholar +1 more source
Children with 5′-end NF1 gene mutations are more likely to have glioma [PDF]
, 2017 Objective:To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1).Methods:The relationship between the type and location of the germline NF1 mutation and the presence of ...
Anastasaki, Corina +3 more
core +2 more sources
Nonsense mutation in PMEL is associated with yellowish plumage colour phenotype in Japanese quail
Scientific Reports, 2018 The L strain of Japanese quail exhibits a plumage phenotype that is light yellowish in colour. In this study, we identified a nonsense mutation in the premelanosome protein (PMEL) gene showing complete concordance with the yellowish plumage within a ...
S. Ishishita +10 more
semanticscholar +1 more source
SAGE Open Medical Case Reports, 2022 Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels.
Xing-Chuan Li +4 more
doaj +1 more source
Biomedicines, 2022 Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia.
Valentino Bezzerri +14 more
doaj +1 more source
P63 and P73 Activation in Cancers with p53 Mutation
Biomedicines, 2022 The members of the p53 family comprise p53, p63, and p73, and full-length isoforms of the p53 family have a tumor suppressor function. However, p53, but not p63 or p73, has a high mutation rate in cancers causing it to lose its tumor suppressor function.
Bi-He Cai +17 more
doaj +1 more source
An immunocompetent patient with a nonsense mutation in NHEJ1 gene [PDF]
BMC Medical Genetics, 2019 DNA double-strand breaks (DSBs) are among the most deleterious types of DNA damage. DSBs are repaired by homologous recombination or non-homologous end-joining (NHEJ). NHEJ, which is central to the process of V(D)J recombination is the principle pathway for DSB repair in higher eukaryotes.
Hossein Esmaeilzadeh +7 more
openaire +4 more sources
Translational Read-Through Therapy of RPGR Nonsense Mutations [PDF]
International Journal of Molecular Sciences, 2020 X-chromosomal retinitis pigmentosa (RP) frequently is caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. We evaluated the potential of PTC124 (Ataluren, TranslamaTM) treatment to promote ribosomal read-through of premature termination codons (PTC) in RPGR.
Christine Vössing +6 more
openaire +4 more sources