Results 21 to 30 of about 726,285 (296)
The causal mutation leading to sweetness in modern white lupin cultivars [PDF]
Science 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
Italian 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
White-matter abnormalities in presymptomaticGRNandC9orf72mutation carriers
Brain Communications, 2022 AbstractA large proportion of familial frontotemporal dementia is caused by TAR DNA-binding protein 43 (transactive response DNA-binding protein 43 kDa) proteinopathies. Accordingly, carriers of autosomal dominant mutations in the genes associated with TAR DNA-binding protein 43 aggregation, such as Chromosome 9 open reading frame 72 (C9orf72) or ...
Hyunwoo Lee +6 more
openaire +3 more sources
BMC 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]
, 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
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Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]
, 2003 BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F. +5 more
core +1 more source
Frontiers 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
A closer look at ARSA activity in a patient with metachromatic leukodystrophy. [PDF]
, 2019 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Childers, Anna +6 more
core +2 more sources
A highly mutable GST is essential for bract colouration in Euphorbia pulcherrima Willd. Ex Klotsch
BMC Genomics, 2021 Background Mutation breeding is an extraordinary tool in plant breeding to increase the genetic variability, where mutations in anthocyanin biosynthesis are targets to generate distinctive phenotypes in ornamental species.
Vinicius Vilperte +2 more
doaj +1 more source
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. [PDF]
, 2017 Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
Hart, James C, Miller, Craig T
core +2 more sources