Results 11 to 20 of about 726,285 (296)

Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses. [PDF]

open access: yesPLoS Genetics, 2012
During fetal development neural-crest-derived melanoblasts migrate across the entire body surface and differentiate into melanocytes, the pigment-producing cells. Alterations in this precisely regulated process can lead to white spotting patterns.
Regula Hauswirth   +18 more
doaj   +7 more sources

Mutation-Based White Box Testing of Deep Neural Networks

open access: yesIEEE Access
Deep Neural Networks (DNNs) are used in many critical areas, such as autonomous vehicles, generative AI systems, etc. Therefore, testing DNNs is vital, especially for models used in critical areas.
Gokhan Cetiner, Ugur Yayan, Ahmet Yazici
doaj   +3 more sources

Control of astrocyte progenitor specification, migration and maturation by Nkx6.1 homeodomain transcription factor. [PDF]

open access: yes, 2014
Although astrocytes are the most abundant cell type in the central nervous system (CNS), little is known about their molecular specification and differentiation.
Chen, Yidan   +10 more
core   +5 more sources

Molecular characterization of mutations in white-flowered torenia plants [PDF]

open access: yesBMC Plant Biology, 2014
Torenia (Torenia fournieri Lind.) is a model plant increasingly exploited in studies in various disciplines, including plant engineering, biochemistry, physiology, and ecology. Additionally, cultivars with different flower colors have been bred and made commercially available.
Nishihara, Masahiro   +5 more
openaire   +2 more sources

CT and MRI findings in infantile vanishing white matter

open access: yesRadiology Case Reports, 2021
Infantile vanishing white matter disease is an uncommon cause of developmental delay and seizures in children. Presented here is a case of vanishing white matter disease diagnosed at 6 months of age.
Kyle Robbins, BS   +5 more
doaj   +1 more source

Functional Analysis of KIT Gene Structural Mutations Causing the Porcine Dominant White Phenotype Using Genome Edited Mouse Models

open access: yesFrontiers in Genetics, 2020
The dominant white phenotype in pigs is thought to be mainly due to a structural mutation in the KIT gene, a splice mutation (G > A) at the first base in intron 17 which leads to the deletion of exon 17 in the mature KIT mRNA. However, this hypothesis
Guanjie Sun   +9 more
doaj   +1 more source

MAP1B mutations cause intellectual disability and extensive white matter deficit [PDF]

open access: yesNature Communications, 2018
AbstractDiscovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Whole-genome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large
Walters   +28 more
openaire   +4 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

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