Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses. [PDF]
PLoS 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 +14 more sources
Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions [PDF]
Clinical Parkinsonism & Related DisordersCADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric ...
Nicola Rifino +9 more
doaj +3 more sources
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. [PDF]
PLoS Genetics, 2007 White coat color has been a highly valued trait in horses for at least 2,000 years. Dominant white (W) is one of several known depigmentation phenotypes in horses.
Bianca Haase +10 more
doaj +8 more sources
Global dissemination of a single mutation conferring white pericarp in rice. [PDF]
PLoS Genetics, 2007 Here we report that the change from the red seeds of wild rice to the white seeds of cultivated rice (Oryza sativa) resulted from the strong selective sweep of a single mutation, a frame-shift deletion within the Rc gene that is found in 97.9% of white ...
Megan T Sweeney +6 more
doaj +5 more sources
Journal of Animal Science and Technology, 2021 The recessive white (locus c) phenotype observed in chickens is associated with three alleles (recessive white c, albino ca, and red-eyed white cre) and causative mutations in ...
Eunjin Cho +6 more
doaj +2 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
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Predicting isocitrate dehydrogenase mutation status in glioma using structural brain networks and graph neural networks [PDF]
arXiv, 2021 Glioma is a common malignant brain tumor with distinct survival among patients. The isocitrate dehydrogenase (IDH) gene mutation provides critical diagnostic and prognostic value for glioma. It is of crucial significance to non-invasively predict IDH mutation based on pre-treatment MRI.
Chen, Xi +5 more
arxiv +6 more sources
C34T mutation of theAMPD1gene in an elite white runner: Figure 1 [PDF]
Case Reports, 2006 The case is reported of an elite, male, white endurance runner (28 years of age), who is one of the best non-African runners in the world despite carrying the C34T mutation in the gene (AMPD1) that encodes the skeletal muscle specific isoform of AMP deaminase, an enzyme that plays an important role in muscle metabolism.
Alejandro Lucı́a +6 more
openalex +11 more sources
Functional Analysis of KIT Gene Structural Mutations Causing the Porcine Dominant White Phenotype Using Genome Edited Mouse Models [PDF]
Frontiers 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 +2 more sources
Triple-Negative Breast Cancer in Georgia: Burden, Disparities, and Connections to Georgia's Breast Cancer Genomics Project [PDF]
Journal of the Georgia Public Health Association, 2017 Background: Triple negative breast cancer (TNBC) is typically aggressive and unresponsive to traditional cancer treatment, and disproportionately affects young and Black women. Approximately 60%-80% of breast cancers in women with the breast cancer gene (
Alissa Berzen, Rana Bayakly
doaj +3 more sources