Results 21 to 30 of about 736,700 (337)

Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers

open access: greenNeurobiology of Aging, 2019
Our aim was to investigate the patterns and trajectories of white matter (WM) diffusion abnormalities in microtubule-associated protein tau (MAPT) mutations carriers. We studied 22 MAPT mutation carriers (12 asymptomatic, 10 symptomatic) and 20 noncarriers from 8 families, who underwent diffusion tensor imaging (DTI) and a subset (10 asymptomatic, 6 ...
Qin Chen   +65 more
openalex   +7 more sources

Comparative Genomics Reveals a Single Nucleotide Deletion in pksP That Results in White-Spore Phenotype in Natural Variants of Aspergillus fumigatus

open access: yesFrontiers in Fungal Biology, 2022
Aspergillus fumigatus is a potentially deadly opportunistic human pathogen. A. fumigatus has evolved a variety of mechanisms to evade detection by the immune system. For example, the conidium surface is covered in a layer of 1,8-dihydroxynaphthalene (DHN)
John G. Gibbons   +8 more
doaj   +1 more source

Drosophila melanogaster White Mutant w1118 Undergo Retinal Degeneration

open access: yesFrontiers in Neuroscience, 2018
Key scientific discoveries have resulted from genetic studies of Drosophila melanogaster, using a multitude of transgenic fly strains, the majority of which are constructed in a genetic background containing mutations in the white gene.
María José Ferreiro   +8 more
doaj   +1 more source

Identification of mutant gene for Black crystal coat and non-allelic gene interactions in Neogale vison

open access: yesScientific Reports, 2022
Sable (Martes zibellina) and American mink (Neogale vison) are valuable species characterized by a variety of coat colour produced on fur farms. Black crystal fur phenotype is Mendelian codominant trait: heterozygous animals (C r / +) have white guard ...
Andrey D. Manakhov   +5 more
doaj   +1 more source

The causal mutation leading to sweetness in modern white lupin cultivars [PDF]

open access: yesScience Advances, 2023
Lupins are high-protein crops that are rapidly gaining interest as hardy alternatives to soybean; however, they accumulate antinutritional alkaloids of the quinolizidine type (QAs). Lupin domestication was enabled by the discovery of genetic loci conferring low QA levels (sweetness), but the precise identity of the underlying genes remains
Davide Mancinotti   +16 more
openaire   +5 more sources

Known loci in the KIT and TYR genes do not explain the depigmented white coat colour of Austro-Hungarian Baroque donkey

open access: yesItalian Journal of Animal Science, 2020
The Italian Asinara donkey and the White Austro-Hungarian Baroque donkey share an identical coat colour phenotype which is characterised by unpigmented skin, white hair, white hooves and blue eyes.
Gertrud Grilz-Seger   +5 more
doaj   +1 more source

Complete association between a retroviral insertion in the tyrosinase gene and the recessive white mutation in chickens

open access: yesBMC Genomics, 2006
Background In chickens, three mutant alleles have been reported at the C locus, including the albino mutation, and the recessive white mutation, which is characterized by white plumage and pigmented eyes.
Oulmouden Ahmad   +5 more
doaj   +1 more source

Empirical Study of Concurrency Mutation Operators for Java [PDF]

open access: yes, 2010
Mutation testing is a white-box fault-based software testing technique that applies mutation operators to modify program source code or byte code in small ways and then runs these modified programs (i.e., mutants) against a test suite in order to measure
Kaiser, Gail E., Wu, Leon Li
core   +2 more sources

Cardiac manifestations of PRKAG2 mutation. [PDF]

open access: yes, 2018
BACKGROUND:The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue.
Ardehali, Reza   +3 more
core   +1 more source

Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome

open access: yesFrontiers in Aging Neuroscience, 2021
Leukodystrophies are a heterogeneous group of inherited disorders with highly variable clinical manifestations and pathogenetic backgrounds. At present, variants in more than 20 genes have been described and may be responsible for different types of ...
Yi-Hui Liu   +10 more
doaj   +1 more source

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