Results 101 to 110 of about 1,170,009 (287)

Genetics of Phenylketonuria: Then and Now

open access: yesHuman Mutation, 2016
More than 950 phenylalanine hydroxylase (PAH) gene variants have been identified in people with phenylketonuria (PKU). These vary in their consequences for the residual level of PAH activity, from having little or no effect to abolishing PAH activity ...
N. Blau
semanticscholar   +1 more source

Genetic analysis of the flaA locus of Bacillus subtilis

open access: yesJournal of Bacteriology, 1991
We isolated two clones of recombinant lambda bacteriophage with overlapping inserts of Bacillus subtilis chromosomal DNA corresponding to part of the flaA locus. The flaA4 and flaA15 mutations were localized on the physical map by marker rescue experiments.
HAUSER PM   +4 more
openaire   +4 more sources

Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies LRRC4C, LHX5-AS1 and nominates ancestry-specific loci PTPRK, GRB14, and KIAA0825 as novel risk loci for Alzheimer disease: the Alzheimer Disease Genetics Consortium

open access: yesmedRxiv, 2023
F. Rajabli   +270 more
semanticscholar   +1 more source

Rate of adaptation in sexuals and asexuals: A solvable model of the Fisher-Muller effect

open access: yes, 2013
The adaptation of large asexual populations is hampered by the competition between independently arising beneficial mutations in different individuals, which is known as clonal interference.
Bürger   +10 more
core   +1 more source

The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy.

open access: yesAnnual review of genomics and human genetics (Print), 2019
Facioscapulohumeral muscular dystrophy (FSHD), a progressive myopathy that afflicts individuals of all ages, provides a powerful model of the complex interplay between genetic and epigenetic mechanisms of chromatin regulation.
C. Himeda, Peter L Jones
semanticscholar   +1 more source

Systems Genetics of Single Nucleotide Polymorphisms at the Drosophila Obp56h Locus [PDF]

open access: green, 2021
Sneha S. Mokashi   +5 more
openalex   +1 more source

Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium

open access: yesPLoS Genetics, 2017
Genome-wide association studies (GWAS) have identified >300 loci associated with measures of adiposity including body mass index (BMI) and waist-to-hip ratio (adjusted for BMI, WHRadjBMI), but few have been identified through screening of the African ...
M. Ng   +125 more
semanticscholar   +1 more source

Omics data reveal the unusual asexual-fruiting nature and secondary metabolic potentials of the medicinal fungus Cordyceps cicadae

open access: yesBMC Genomics, 2017
Background Ascomycete Cordyceps species have been using as valued traditional Chinese medicines. Particularly, the fruiting bodies of Cordyceps cicadae (syn. Isaria cicadae) have long been utilized for the treatment of chronic kidney disease.
Yuzhen Lu   +9 more
doaj   +1 more source

The Genetics of Pemphigus Vulgaris

open access: yesFrontiers in Medicine, 2018
Pemphigus vulgaris (PV) is a severe autoimmune blistering disease caused by auto-antibodies (auto-Abs) directed against epithelial desmosomal components and leading to disruption of cell-cell adhesion.
D. Vodo, O. Sarig, E. Sprecher
semanticscholar   +1 more source

QTL Analysis for Drought Tolerance in Wheat: Present Status and Future Possibilities

open access: yesAgronomy, 2017
In recent years, with climate change, drought stress has been witnessed in many parts of the world. In many irrigated regions also, shortage of water supply allows only limited irrigation.
Pushpendra Kumar Gupta   +2 more
doaj   +1 more source

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