Variants in the PRPF8 Gene are Associated with Glaucoma
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Neurobiology"
DOI: 10.1007/s12035-017-0673-5
Abstract: Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they explain only a small… read more here.
Keywords: poag; variants prpf8; associated glaucoma; gene associated ... See more keywords
A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia
Sign Up to like & getrecommendations! Published in 2020 at "Indian Pediatrics"
DOI: 10.1007/s13312-020-1861-3
Abstract: A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia TORCH titres were normal. Chromosomal breakage studies and stool for fat globules were negative. Ultrasound was not suggestive of pancreatic fibrosis or renal anomaly.… read more here.
Keywords: g6pc3 gene; novel mutation; gene associated; congenital neutropenia ... See more keywords
Genetic defects in the nef gene are associated with Korean Red Ginseng intake: monitoring of nef sequence polymorphisms over 20 years
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Ginseng Research"
DOI: 10.1016/j.jgr.2016.02.005
Abstract: Background The presence of gross deletions in the human immunodeficiency virus nef gene (gΔnef) is associated with long-term nonprogression of infected patients. Here, we investigated how quickly genetic defects in the nef gene are associated… read more here.
Keywords: nef gene; gene associated; genetic defects; ginseng ... See more keywords
A novel p.L216I mutation in the glucocerebrosidase gene is associated with Parkinson’s disease in Han Chinese patients
Sign Up to like & getrecommendations! Published in 2018 at "Neuroscience Letters"
DOI: 10.1016/j.neulet.2018.03.017
Abstract: OBJECTIVES Pathogenic mutations in the glucocerebrosidase (GBA) gene are associated with Parkinson's disease (PD), of which L444P and N370S are the most frequently observed in patients with PD. The aim of this study was to… read more here.
Keywords: gene associated; associated parkinson; chinese patients; han chinese ... See more keywords
A novel SNP of MYO1A gene associated with heat-tolerance in Chinese cattle.
Sign Up to like & getrecommendations! Published in 2020 at "Animal biotechnology"
DOI: 10.1080/10495398.2020.1837147
Abstract: With the advent of global climate change, heat-tolerance is becoming more and more important to the sustainability of animal husbandry production systems. Previous studies have shown that MYO1A gene associated with pigmentation may be closely… read more here.
Keywords: heat tolerance; tolerance; gene associated; myo1a gene ... See more keywords
Mutation in the ADNP gene associated with Noonan syndrome features
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000215
Abstract: Department of Medical and Metabolic Genetics, McGill University Health Centre, Montreal, Quebec, The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Department of Clinical and Metabolic Genetics, The Hospital… read more here.
Keywords: gene associated; mutation adnp; genetics; department ... See more keywords
The rs10455872-G allele of the LPA gene is associated with high lipoprotein(a) levels and increased aortic valve calcium in a Mexican adult population
Sign Up to like & getrecommendations! Published in 2019 at "Genetics and Molecular Biology"
DOI: 10.1590/1678-4685-gmb-2017-0371
Abstract: Abstract Polymorphisms in the LPA gene have been associated with aortic valve calcification (AVC). There are wide differences in the allelic frequencies, Lp(a) levels, and the association with AVC among ethnic groups. The aim of… read more here.
Keywords: gene associated; population; rs10455872 allele; lpa gene ... See more keywords
Variants in the CXCL12 gene was associated with coronary artery disease susceptibility in Chinese Han population
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.17171
Abstract: Background Coronary artery disease (CAD) is one of the most serious diseases all around the world. Previous studies have shown the function of CXCL12 in the process of atherosclerosis. The aim of this research is… read more here.
Keywords: gene associated; variants cxcl12; cad; cxcl12 gene ... See more keywords
Development of a Large Gene-Associated SSR Marker Set and in-Depth Genetic Characterization in Scarlet Sage
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2020.00504
Abstract: Salvia splendens, scarlet or tropical sage, is a tender perennial herbaceous flowering plant popularly grown in public and private gardens all over the world. In this study, we developed a set of simple sequence repeats… read more here.
Keywords: gene associated; gene; scarlet sage; associated ssr ... See more keywords