Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23157
Abstract: MED12 is a key component of the transcription‐regulating Mediator complex. Specific missense and in‐frame insertion/deletion mutations in exons 1 and 2 have been identified in uterine leiomyomas, breast tumors, and chronic lymphocytic leukemia. Here, we… read more here.
Keywords: nonsense mutation; somatic med12; med12; mrna decay ... See more keywords
A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1492
Abstract: NFIA gene (OMIM*600727) has been shown to be associated with a syndrome of central nervous system malformations (corpus callosum and ventriculomegaly) with or without urinary tract defects(BRMUTD) (OMIM#613735) with a low incidence. read more here.
Keywords: gene nonsense; corpus callosum; nfia gene; nonsense mutation ... See more keywords
A nonsense mutation in MME gene associates with autosomal recessive late‐onset Charcot–Marie–Tooth disease
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1913
Abstract: The genetic cause for the majority of patients with late‐onset axonal form of neuropathies have remained unknown. In this study we aimed to identify the causal mutation in a family with multiple affected individuals manifesting… read more here.
Keywords: mutation mme; mme gene; mutation; late onset ... See more keywords
A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia.
Sign Up to like & getrecommendations! Published in 2019 at "Advances in experimental medicine and biology"
DOI: 10.1007/5584_2018_300
Abstract: Inactivating mutations of the CYP21A2 gene, encoding for steroid synthesis, have been reported in patients with congenital adrenal hyperplasia (CAH). We report a case of an infant who were diagnosed with CAH and presented with… read more here.
Keywords: novel nonsense; mutation 374c; nonsense mutation; cyp21a2 gene ... See more keywords
A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex
Sign Up to like & getrecommendations! Published in 2020 at "Child's Nervous System"
DOI: 10.1007/s00381-020-04702-7
Abstract: Purpose Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems. The TSC1 and TSC2 genes have been identified as the genetic basis of TSC. Two gene tests… read more here.
Keywords: tuberous sclerosis; sclerosis complex; nonsense mutation; pediatric patient ... See more keywords
Development and Phenotype Studies of a Slow Skeletal Troponin T E180 Nonsense Mutation Knock-In Mouse Line
Sign Up to like & getrecommendations! Published in 2017 at "Biophysical Journal"
DOI: 10.1016/j.bpj.2016.11.658
Abstract: A nonsense mutation in codon Glu180 of TNNT1 gene encoding the slow skeletal muscle isoform of troponin T (ssTnT) causes a recessively inherited severe nemaline myopathy (Amish nemaline myopathy, ANM). Muscle biopsies of ANM patients… read more here.
Keywords: muscle; nonsense mutation; soleus muscle; sstnt ... See more keywords
Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical biochemistry"
DOI: 10.1016/j.clinbiochem.2018.10.015
Abstract: BACKGROUND In the α-thalassemia one of the less frequent mechanisms is the nonsense mutations, which generate the substitution of a triplet that encodes an amino acid for a stop codon and, therefore, protein synthesis stops… read more here.
Keywords: thalassemia; globin; gene; nonsense mutation ... See more keywords
An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation
Sign Up to like & getrecommendations! Published in 2018 at "Experimental Eye Research"
DOI: 10.1016/j.exer.2018.02.027
Abstract: Abstract The cyclic nucleotide‐gated (CNG) channel ‐ composed of CNGA3 and CNGB3 subunits ‐ mediates the influx of cations in cone photoreceptors after light stimulation and thus is a key element in cone phototransduction. Mutations… read more here.
Keywords: short isoform; early nonsense; cnga3; isoform ... See more keywords
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Sign Up to like & getrecommendations! Published in 2017 at "The Lancet"
DOI: 10.1016/s0140-6736(17)31611-2
Abstract: BACKGROUND Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored.… read more here.
Keywords: dmd; group; nonsense mutation; baseline 6mwd ... See more keywords
2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations
Sign Up to like & getrecommendations! Published in 2020 at "Nature Communications"
DOI: 10.1038/s41467-020-15140-z
Abstract: Nonsense mutations cause about 10% of genetic disease cases, and no treatments are available. Nonsense mutations can be corrected by molecules with nonsense mutation readthrough activity. An extract of the mushroom Lepista inversa has recently… read more here.
Keywords: highly potent; diaminopurine highly; nonsense mutation; nonsense mutations ... See more keywords
Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene
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DOI: 10.1080/13816810.2020.1870149
Abstract: ABSTRACT Background: Gyrate Atrophy (GA) is a rare autosomal recessive disorder characterized by progressive chorioretinal degeneration. It is caused due to mutations in OAT gene that encodes a defective ornithine-δ-aminotransferase enzyme. We aim to identify… read more here.
Keywords: nonsense mutation; gyrate atrophy; oat gene; mutation ... See more keywords