A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism. [PDF]
PLoS ONE, 2012 BackgroundThe purpose of this study was to elucidate the molecular basis of ocular albinism type I in a Chinese pedigree.Methodology/principal findingsComplete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected ...
Naihong Yan +8 more
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A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family [PDF]
Indian Journal of Ophthalmology, 2016 Background: Congenital nystagmus (CN) is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN.
Jing Liu +3 more
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Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143 [PDF]
Stem Cell Research, 2018 Ocular albinism type 1 is a genetic eye disease caused by mutations in the GPR143 gene. Little is known about the molecular pathways involved in this disease and no therapeutic candidate has been identified as yet.
Edouard Baulier +3 more
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Uncovering the candidate genes related to sheep body weight using multi-trait genome-wide association analysis [PDF]
Frontiers in Veterinary Science, 2023 In sheep, body weight is an economically important trait. This study sought to map genetic loci related to weaning weight and yearling weight. To this end, a single-trait and multi-trait genome-wide association study (GWAS) was performed using a high ...
Yunna Li +14 more
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A role for myocilin in receptor-mediated endocytosis. [PDF]
PLoS ONE, 2013 Myocilin is a broadly expressed protein that when mutated uniquely causes glaucoma. While no function has been ascribed to explain focal disease, some properties of myocilin are known.
Brian S McKay +5 more
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Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus [PDF]
BMJ Open, 2016 Objectives Infantile nystagmus (IN) is a genetically heterogeneous condition characterised by involuntary rhythmic oscillations of the eyes accompanied by different degrees of vision impairment.
Fang Zhang +11 more
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A G-Protein Coupled Receptor and Macular Degeneration [PDF]
Cells, 2020 Age-related macular degeneration (AMD) is a leading cause of irreversible blindness in the world. The risk of AMD increases with age and is most common among the white population. Here, we discuss the convergence of factors related to race, pigmentation,
Anna G. Figueroa, Brian S. McKay
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Identification of Upregulating Genes, Transcription Factors, and miRNAs in Vitiligo. In silico Study [PDF]
Clinical, Cosmetic and Investigational DermatologyAhmed Ibrahim AbdElneam,1,2 Mohammed Saleh Al-Dhubaibi,3 Saleh Salem Bahaj,4 Ghada Farouk Mohammed,5 Lina Mohammed Atef5 1Department of Clinical Biochemistry, Department of Basic Medical Sciences, College of Medicine, Shaqra University, Dawadmi, Saudi ...
AbdElneam AI +4 more
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Identification of Differentially Expressed Genes and microRNAs in the Gray and White Feather Follicles of Shitou Geese [PDF]
AnimalsThe Shitou goose, a highly recognized indigenous breed with gray plumage originating from Chaozhou Raoping in Guangdong Province, China, is renowned for being the largest goose species in the country.
Pengyun Guo +7 more
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Cancer MedicineObjective The genomic and molecular ecology involved in the stepwise continuum progression of lung adenocarcinoma (LUAD) from adenocarcinoma in situ (AIS) to minimally invasive adenocarcinoma (MIA) and subsequent invasive adenocarcinoma (IAC) remains ...
Dong Zhou +9 more
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