The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion. [PDF]
, 2017 Common genetic variants at the ARL15 locus are associated with plasma adiponectin, insulin and HDL cholesterol concentrations, obesity, and coronary atherosclerosis.
Alison Sleigh +10 more
core +3 more sources
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
Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. [PDF]
PLoS ONE, 2013 Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the corresponding mRNA and failure to generate a functional protein.
Richard S Finkel +10 more
doaj +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
Nonaminoglycoside compounds induce readthrough of nonsense mutations [PDF]
Journal of Experimental Medicine, 2009 Large numbers of genetic disorders are caused by nonsense mutations for which compound-induced readthrough of premature termination codons (PTCs) might be exploited as a potential treatment strategy. We have successfully developed a sensitive and quantitative high-throughput screening (HTS) assay, protein transcription/translation (PTT)–enzyme-linked ...
Du, Liutao +10 more
openaire +4 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
A BRCA1 Nonsense Mutation Causes Exon Skipping [PDF]
The American Journal of Human Genetics, 1998 The authors would like to thank the family members. We also thank C. Bonnardel, L. Boutrand, T. Conway, J. Lynch, S. Slominski, and P. Watson, for their expert assistance. This work was supported by program grants from le Comite Departemental de l'Ain de La Ligue contre le Cancer, the Council for Tobacco Research (grant 127DR@), the U.S.
Mazoyer, Sylvie +5 more
openaire +2 more sources
Isolated brachydactyly type E caused by a
BMC Medical Genetics, 2012 Background Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb.
Jamsheer Aleksander +3 more
doaj +1 more source
Systematic associations between germ-line mutations and human cancers [PDF]
, 2016 YesThe revolution in Big Data has opened the gate for new research challenges in biomedical science. The aim of this study was to investigate whether germ-line gene mutations are a significant factor in 29 major primary human cancers. Using data obtained
Al-Shammari, Mohamad H. +2 more
core +1 more source
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation [PDF]
, 2016 Background: Breast cancer risk increases drastically in individuals carrying a germline BRCA1 mutation. The exposure to ionizing radiation for diagnostic or therapeutic purposes of BRCA1 mutation carriers is counterintuitive, since BRCA1 is active in the
A Pijpe +67 more
core +4 more sources