Results 51 to 60 of about 717,864 (344)

Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w) ) and mottled (mo) plumage phenotypes in the chicken. [PDF]

open access: yesPLoS ONE, 2014
A mutation that confers white plumage with black eyes was identified in the Minohiki breed of Japanese native chicken (Gallus gallus domesticus). The white plumage, with a few partially pigmented feathers, was not associated with the tyrosinase gene, and
Keiji Kinoshita   +8 more
doaj   +1 more source

Sporadic white sponge nevus caused by a mutation in the keratin 4 gene

open access: yesOral and Maxillofacial Surgery Cases, 2020
Herein, we present a sporadic case of white sponge nevus (WSN) on the cheek mucosa in a 27-year-old Japanese man. A definite diagnosis of WSN was obtained using the typical clinical appearance and microscopic features of the lesions.
Harusachi Kanazawa   +5 more
doaj   +1 more source

Case report: Genomic screening for inherited cardiac conditions in Ecuadorian mestizo relatives: Improving familial diagnose

open access: yesFrontiers in Cardiovascular Medicine, 2022
IntroductionGenomic screening is an informative and helpful tool for the clinical management of inherited conditions such as cardiac diseases. Cardiac-inherited diseases are a group of disorders affecting the heart, its system, function, and vasculature.
Santiago Cadena-Ullauri   +8 more
doaj   +1 more source

Regional association of pCASL-MRI with FDG-PET and PiB-PET in people at risk for autosomal dominant Alzheimer's disease. [PDF]

open access: yes, 2018
Autosomal dominant Alzheimer's disease (ADAD) is a small subset of Alzheimer's disease that is genetically determined with 100% penetrance. It provides a valuable window into studying the course of pathologic processes that leads to dementia.
Coppola, Giovanni   +8 more
core   +3 more sources

Presence of the ABCB1 (MDR1) deletion mutation causing ivermectin hypersensitivity in certain dog breeds in Belgium [PDF]

open access: yes, 2009
Hypersensitivity to ivermectin and certain other drugs in Collies and related breeds is caused by a 4-base pair deletion mutation in the ABCB1 gene, better known as the MDR1 gene, encoding P-glycoprotein.
Daminet, Sylvie   +9 more
core   +2 more sources

The epithelial barrier theory proposes a comprehensive explanation for the origins of allergic and other chronic noncommunicable diseases

open access: yesFEBS Letters, EarlyView.
Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu   +17 more
wiley   +1 more source

Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

open access: yesBrazilian Journal of Medical and Biological Research, 2013
Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF.
C. Kosan, A. Cayir, M.I. Turan
doaj   +1 more source

Heterozygous frameshift mutation in FaMYB10 is responsible for the natural formation of red and white-fleshed strawberry (Fragaria x ananassa Duch)

open access: yesFrontiers in Plant Science, 2022
During natural evolution and artificial selection, the fruit color of many species has been repeatedly gained or lost and is generally associated with mutations in genes encoding R2R3-MYB transcription factors, especially MYB10.
Huazhao Yuan   +5 more
doaj   +1 more source

A common phytoene synthase mutation underlies white petal varieties of the California poppy. [PDF]

open access: yes, 2019
The California poppy (Eschscholzia californica) is renowned for its brilliant golden-orange flowers, though white petal variants have been described.
Gong, Xue   +2 more
core   +1 more source

Insertional DNA and spontaneous mutation at the white locus in Drosophila simulans

open access: yesMolecular and General Genetics MGG, 1987
A large body of data on molecular analyses of several multiallelic loci in Drosophila melanogaster has demonstrated a high incidence of mobile DNA element insertions among spontaneous mutations. In the sibling species D. simulans, the dispersed, middle repetitive, nomadic sequences are reduced to about one-seventh that of its sibling species (Dowsett ...
Yoshihiro H. Inoue, Masa-Toshi Yamamoto
openaire   +3 more sources

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