Results 21 to 30 of about 1,715 (142)

Molecular insights into region-specific sexual dichromatism: Comparative transcriptome analysis of red cheek pigmentation in zebra finches. [PDF]

open access: yesPLoS Genetics
Feathers, the primary skin appendage covering the avian body, undergo dynamic phenotypic changes throughout a bird's life. Males and females of the same species can exhibit sexually dichromatic plumage colors which play a critical role in mating choice ...
Gee-Way Lin   +8 more
doaj   +2 more sources

<i>GPR143</i>-Associated Ocular Albinism in a Hispanic Family and Review of the Literature. [PDF]

open access: yesGenes (Basel)
Background/Objectives: While ocular albinism (OA) is usually associated with reduced vision, nystagmus, and foveal hypoplasia, there is phenotypic variability in iris and fundus hypopigmentation. Hemizygous pathogenic/likely pathogenic (P/LP) variants in
Aneja A   +12 more
europepmc   +2 more sources

Right ventricular overloading is attenuated in monocrotaline-induced pulmonary hypertension model rats with a disrupted Gpr143 gene, the gene that encodes the 3,4-l-dihydroxyphenyalanine (l-DOPA) receptor

open access: yesJournal of Pharmacological Sciences, 2022
Pulmonary hypertension (PH) is a severe and progressive disease that causes elevated right ventricular systolic pressure, right ventricular hypertrophy and ultimately right heart failure.
Masayuki Nakano   +15 more
doaj   +1 more source

The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor

open access: yesFrontiers in Molecular Biosciences, 2022
GPCRs transform extracellular stimuli into a physiological response by activating an intracellular signaling cascade initiated via binding to G proteins. Orphan G protein-coupled receptors (GPCRs) hold the potential to pave the way for development of new,
Beatriz Bueschbell   +2 more
doaj   +1 more source

Differential expression of GPR143 in cancer of the skin: malignant melanoma. [PDF]

open access: yes, 2023
Skin cancer is diagnosed in nearly 1.5 million patients each year (1). While patients with basal and squamous cell carcinomas are provided with 5-year survival rates at nearly 100% and 90%, respectively, patients diagnosed with cutaneous melanoma ...
Shahan Mamoor
core   +1 more source

Genetic associations of single nucleotide polymorphisms in the l-DOPA receptor (GPR143) gene with severity of nicotine dependence in Japanese individuals, and attenuation of nicotine reinforcement in Gpr143 gene-deficient mice

open access: yesJournal of Pharmacological Sciences, 2020
l-3,4-dihydroxyphenylalanine (l-DOPA) is a candidate neurotransmitter. l-DOPA is released by nicotine through nicotinic receptors. Recently, G-protein coupled receptor GPR143, was identified as a receptor for l-DOPA.
Daiki Masukawa   +13 more
doaj   +1 more source

Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus

open access: yesFrontiers in Cell and Developmental Biology, 2021
Purpose: Congenital nystagmus (CN) is a genetically and clinically heterogeneous ocular disorder that manifests as involuntary, periodic oscillations of the eyes. To date, only FRMD7 and GPR143 have been reported to be responsible for causing CN.
Xiao-Fang Wang   +12 more
doaj   +1 more source

Idiopathic Infantile Nystagmus; Genetics foundation and Clinical association

open access: yesJournal of Biochemical and Clinical Genetics, 2023
Nystagmus is an involuntary, periodic eye movement caused by a slow drift of fixation of either jerk, pendular, or rotatory form. The clinical and molecular assessment of nystagmus can provide crucial elements for a state-of-the-art differential ...
Basamat AlMoallem
doaj   +1 more source

Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia

open access: yesBMC Ophthalmology, 2021
Background Pathogenic variants of G-protein coupled receptor 143 (GPR143) gene often leads to ocular albinism type I (OA1) characterized by nystagmus, iris and fundus hypopigmentation, and foveal hypoplasia.
Xiying Mao   +5 more
doaj   +1 more source

Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes [PDF]

open access: yes, 2021
Blue cone monochromatism (BCM) is an X-linked recessive cone dysfunction disorder caused by mutations in the OPN1LW/OPN1MW gene cluster, encoding long (L)- and middle (M)-wavelength-sensitive cone opsins.
Giancarlo Iarossi   +8 more
core   +1 more source

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