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 +8 more sources
C34T mutation of theAMPD1gene in an elite white runner: Figure 1 [PDF]
BMJ 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 important in muscle metabolism.
Alejandro Lucı́a +6 more
openalex +11 more sources
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
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 +1 more source
Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants
Frontiers in Pediatrics, 2021 A 2-month-old male infant presented with white colored stools 1 month after birth. There was no jaundice of the skin, mucous membrane, or sclera; his liver was enlarged (4 cm below the ribs), and his liver function tests showed slightly elevated total ...
Jing Guo, Rong He, Zhi-qin Mao
doaj +1 more source
Association Analysis Between Polymorphism of Gonadotrophin Releasing Hormone Genes and Growth Traits of Quail (Coturnix Coturnix) [PDF]
Brazilian Journal of Poultry Science, 2021 This study investigated SNP mutation sites of Gonadotrophin releasing hormone (GnRH) gene in China yellow quail, Beijing white quail and Korean quail through PCR amplification and DNA sequencing technologies.
J Bai +5 more
doaj +1 more source
Molecular characterization of mutations in white-flowered torenia plants [PDF]
BMC 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.
Takashi Nakatsuka +5 more
openaire +3 more sources
Molecular Marker-Assisted Selection of Green Shank and White Feather Traits in Chickens
Guangdong nongye kexue, 2023 【Objective】The shank and feather color, as the characteristic traits of breeds, which remains an important selective trait in the breeding process of new varieties.
Xuewen CHAI +7 more
doaj +1 more source
White matter involvement in a family with a novel PDGFB mutation [PDF]
Neurology Genetics, 2016 Primary familial brain calcification (PFBC) (formerly idiopathic basal ganglia calcification; Fahr disease) is an autosomal dominant cerebral microvascular calcifying disorder with variable clinical and imaging features.(1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5).
BIANCHERI, ROBERTA +9 more
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CT and MRI findings in infantile vanishing white matter
Radiology 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