Results 51 to 60 of about 1,404,124 (275)
Variable readthrough responsiveness of nonsense mutations in hemophilia A
Haematologica, 2019 Readthrough therapy relies on the use of small molecules that enable premature termination codons in mRNA open reading frames to be misinterpreted by the translation machinery, thus allowing the generation of full-length, potentially functional proteins from mRNA carrying nonsense mutations. In patients with hemophilia A, nonsense mutations potentially
Rafael Parra +4 more
openaire +5 more sources
A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]
, 2017 Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella +10 more
core +2 more sources
BMC Ophthalmology, 2021 Background To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China. Methods Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate ...
Wei Liu, Ruru Guo, Huijie Hao, Jian Ji
doaj +1 more source
Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii [PDF]
, 2018 Intraflagellar transport moves proteins in and out of flagella/cilia and it is essential for the assembly of these organelles. Using whole-genome sequencing, we identified splice site mutations in two IFT genes,
Dutcher, Susan K. +3 more
core +2 more sources
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
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
A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome. [PDF]
, 2016 BACKGROUND: Pierson syndrome (PS) is a rare autosomal recessive disorder, caused by mutations in the laminin β2 (LAMB2) gene. It is characterized by congenital nephrotic syndrome, microcoria, and neurodevelopmental deficits.
Bonny, O. +6 more
core +1 more source
Positions of early nonsense and deletion mutations in lacZ [PDF]
Journal of Bacteriology, 1980 The positions of three Escherichia coli lacZ operator-proximal nonsense mutations and one deletion mutation have been determined. The nonsense mutations were suppressed with supF, resulting in the production of active beta-galactosidase by each strain. Amino acid sequencing identified the positions of the tyrosine residues inserted by supF, and thereby
Irving Zabin +3 more
openaire +3 more sources
Human Molecular Genetics, 2015 Infertility is a global healthcare problem, and despite long years of assisted reproductive activities, a significant number of cases remain idiopathic.
O. Okutman +13 more
semanticscholar +1 more source
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