Results 41 to 50 of about 141,024 (299)
BMC Medical Genomics, 2009 Background Gastric cancers frequently show chromosomal alterations which can cause activation of oncogenes, and/or inactivation of tumour suppressor genes. In gastric cancer several chromosomal regions are described to be frequently lost, but for most of
Ylstra Bauke +7 more
doaj +1 more source
SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1 [PDF]
, 2015 BACKGROUND SEDLIN, a 140 amino acid subunit of the Transport Protein Particle (TRAPP) complex, is ubiquitously expressed and interacts with the transcription factors c-myc promoter-binding protein 1 (MBP1), pituitary homeobox 1 (PITX1) and steroidogenic ...
Callaghan, Richard +5 more
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Suppression of Nonsense Mutations by New Emerging Technologies [PDF]
International Journal of Molecular Sciences, 2020 Nonsense mutations often result from single nucleotide substitutions that change a sense codon (coding for an amino acid) to a nonsense or premature termination codon (PTC) within the coding region of a gene. The impact of nonsense mutations is two-fold: (1) the PTC-containing mRNA is degraded by a surveillance pathway called nonsense-mediated mRNA ...
Pedro Morais, Hironori Adachi, Yi-Tao Yu
openaire +2 more sources
Pulmonary Circulation, 2020 Pulmonary arterial hypertension is a fatal disorder of the lung circulation in which accumulation of vascular cells progressively obliterates the pulmonary arterioles. This results in sustained elevation in pulmonary artery pressure leading eventually to
Lu Long +7 more
doaj +1 more source
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. [PDF]
PLoS Genetics, 2007 White coat color has been a highly valued trait in horses for at least 2,000 years. Dominant white (W) is one of several known depigmentation phenotypes in horses.
Bianca Haase +10 more
doaj +1 more source
, 2012 Mutations in the human ether-a-go-go-related gene (hERG) result in long QT syndrome type 2 (LQT2). The hERG gene encodes a K+ channel that contributes to the repolarization of the cardiac action potential.
Gong, Qiuming +3 more
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Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics [PDF]
, 2019 Choroideremia (CHM) is an x-linked recessive chorioretinal dystrophy, with 30% caused by nonsense mutations in the CHM gene resulting in an in-frame premature termination codon (PTC).
Adam M Dubis +35 more
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Identification and functional analysis of novel phosphorylation sites in the RNA surveillance protein Upf1. [PDF]
, 2013 One third of inherited genetic diseases are caused by mRNAs harboring premature termination codons as a result of nonsense mutations. These aberrant mRNAs are degraded by the Nonsense-Mediated mRNA Decay (NMD) pathway.
Bracho, Dina P +11 more
core +1 more source
Disease Models & Mechanisms, 2016 Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized by the occurrence of nerve sheath tumors and considerable clinical heterogeneity.
Kairong Li +11 more
doaj +1 more source
A novel mutation in SACS gene in a family from southern Italy [PDF]
, 2004 A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC),
BANFI S +10 more
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