Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
about
L-DOPA is an endogenous ligand for OA1Eight previously unidentified mutations found in the OA1 ocular albinism geneSpectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosaDifferential actin-dependent localization modulates the evolutionarily conserved activity of Shroom family proteinsOA1 mutations and deletions in X-linked ocular albinismDG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genesIdentification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assayNew insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 geneScanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLCDeletion in the OA1 gene in a family with congenital X linked nystagmusGPR143 mutations in Chinese patients with ocular albinism type 1.Involvement of OA1, an intracellular GPCR, and G alpha i3, its binding protein, in melanosomal biogenesis and optic pathway formationRelationship between foveal cone specialization and pit morphology in albinismExpression of a novel splice variant of FRMD7 in developing human fetal brains that is upregulated upon the differentiation of NT2 cells.Structural insights into human GPCR protein OA1: a computational perspective.A constitutively active Gαi3 protein corrects the abnormal retinal pigment epithelium phenotype of Oa1-/- miceA novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinismAlbinism: modern molecular diagnosisA novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.Molecular and clinical characterization of albinism in a large cohort of Italian patients.Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.Deep intronic GPR143 mutation in a Japanese family with ocular albinismRecent advances. Medical genetics.Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.Clinical Insights Into Foveal Morphology in AlbinismA novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmusGNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomesA previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family.Identification and characterization of a melanocyte-specific novel 65-kDa peripheral membrane protein.Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly.Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis.Clinical evaluation and molecular screening of a large consecutive series of albino patients.GPR143Gene Mutation Analysis In Pediatric Patients With AlbinismClinical and molecular characterization of a family affected with X-linked ocular albinism(OA1)
P2860
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P2860
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
description
1995 nî lūn-bûn
@nan
1995 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Analysis of the OA1 gene revea ...... with X-linked ocular albinism
@ast
Analysis of the OA1 gene revea ...... with X-linked ocular albinism
@en
Analysis of the OA1 gene revea ...... with X-linked ocular albinism
@nl
type
label
Analysis of the OA1 gene revea ...... with X-linked ocular albinism
@ast
Analysis of the OA1 gene revea ...... with X-linked ocular albinism
@en
Analysis of the OA1 gene revea ...... with X-linked ocular albinism
@nl
prefLabel
Analysis of the OA1 gene revea ...... with X-linked ocular albinism
@ast
Analysis of the OA1 gene revea ...... with X-linked ocular albinism
@en
Analysis of the OA1 gene revea ...... with X-linked ocular albinism
@nl
P2093
P50
P3181
P356
P1476
Analysis of the OA1 gene revea ...... with X-linked ocular albinism
@en
P2093
P304
P3181
P356
10.1093/HMG/4.12.2319
P407
P577
1995-12-01T00:00:00Z