These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 10471510)

  • 21. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.
    Schiaffino MV; Baschirotto C; Pellegrini G; Montalti S; Tacchetti C; De Luca M; Ballabio A
    Proc Natl Acad Sci U S A; 1996 Aug; 93(17):9055-60. PubMed ID: 8799153
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
    Bassi MT; Bergen AA; Bitoun P; Charles SJ; Clementi M; Gosselin R; Hurst J; Lewis RA; Lorenz B; Meitinger T; Messiaen L; Ramesar RS; Ballabio A; Schiaffino MV
    Hum Genet; 2001 Jan; 108(1):51-4. PubMed ID: 11214907
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Specific interaction of Gαi3 with the Oa1 G-protein coupled receptor controls the size and density of melanosomes in retinal pigment epithelium.
    Young A; Jiang M; Wang Y; Ahmedli NB; Ramirez J; Reese BE; Birnbaumer L; Farber DB
    PLoS One; 2011; 6(9):e24376. PubMed ID: 21931697
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Structural insights into human GPCR protein OA1: a computational perspective.
    Ghosh A; Sonavane U; Andhirka SK; Aradhyam GK; Joshi R
    J Mol Model; 2012 May; 18(5):2117-33. PubMed ID: 21938455
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Eight previously unidentified mutations found in the OA1 ocular albinism gene.
    Mayeur H; Roche O; Vêtu C; Jaliffa C; Marchant D; Dollfus H; Bonneau D; Munier FL; Schorderet DF; Levin AV; Héon E; Sutherland J; Lacombe D; Said E; Mezer E; Kaplan J; Dufier JL; Marsac C; Menasche M; Abitbol M
    BMC Med Genet; 2006 Apr; 7():41. PubMed ID: 16646960
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Involvement of OA1, an intracellular GPCR, and G alpha i3, its binding protein, in melanosomal biogenesis and optic pathway formation.
    Young A; Powelson EB; Whitney IE; Raven MA; Nusinowitz S; Jiang M; Birnbaumer L; Reese BE; Farber DB
    Invest Ophthalmol Vis Sci; 2008 Jul; 49(7):3245-52. PubMed ID: 18378571
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function.
    Giordano F; Simoes S; Raposo G
    Proc Natl Acad Sci U S A; 2011 Jul; 108(29):11906-11. PubMed ID: 21730137
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer.
    Surace EM; Domenici L; Cortese K; Cotugno G; Di Vicino U; Venturi C; Cellerino A; Marigo V; Tacchetti C; Ballabio A; Auricchio A
    Mol Ther; 2005 Oct; 12(4):652-8. PubMed ID: 16023414
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.
    Martinez-Garcia M; Riveiro-Alvarez R; Villaverde-Montero C; Cantalapiedra D; Garcia-Sandoval B; Ayuso C; Trujillo-Tiebas MJ
    Clin Exp Ophthalmol; 2010 Jul; 38(5):489-95. PubMed ID: 20649618
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.
    Rachel RA; Nagashima K; O'Sullivan TN; Frost LS; Stefano FP; Marigo V; Boesze-Battaglia K
    PLoS One; 2012; 7(9):e42446. PubMed ID: 22984402
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium.
    Surace EM; Angeletti B; Ballabio A; Marigo V
    Invest Ophthalmol Vis Sci; 2000 Dec; 41(13):4333-7. PubMed ID: 11095635
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Novel human pathological mutations. Gene symbol: OA1. Disease: albinism, ocular.
    Martinez-Garcia M; Trujillo-Tiebas MJ; Villaverde C; López-Martínez MA; Ayuso C
    Hum Genet; 2009 Apr; 125(3):349. PubMed ID: 19320034
    [No Abstract]   [Full Text] [Related]  

  • 33. OA1 mutations and deletions in X-linked ocular albinism.
    Schnur RE; Gao M; Wick PA; Keller M; Benke PJ; Edwards MJ; Grix AW; Hockey A; Jung JH; Kidd KK; Kistenmacher M; Levin AV; Lewis RA; Musarella MA; Nowakowski RW; Orlow SJ; Pagon RS; Pillers DA; Punnett HH; Quinn GE; Tezcan K; Wagstaff J; Weleber RG
    Am J Hum Genet; 1998 Apr; 62(4):800-9. PubMed ID: 9529334
    [TBL] [Abstract][Full Text] [Related]  

  • 34. The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis.
    Vetrini F; Auricchio A; Du J; Angeletti B; Fisher DE; Ballabio A; Marigo V
    Mol Cell Biol; 2004 Aug; 24(15):6550-9. PubMed ID: 15254223
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A constitutively active Gαi3 protein corrects the abnormal retinal pigment epithelium phenotype of Oa1-/- mice.
    Young A; Wang Y; Ahmedli NB; Jiang M; Farber DB
    PLoS One; 2013; 8(9):e76240. PubMed ID: 24098784
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.
    Faugère V; Tuffery-Giraud S; Hamel C; Claustres M
    BMC Genet; 2003 Jan; 4():1. PubMed ID: 12515581
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
    Schiaffino MV; Bassi MT; Galli L; Renieri A; Bruttini M; De Nigris F; Bergen AA; Charles SJ; Yates JR; Meindl A
    Hum Mol Genet; 1995 Dec; 4(12):2319-25. PubMed ID: 8634705
    [TBL] [Abstract][Full Text] [Related]  

  • 38. GPR143 mutations in Chinese patients with ocular albinism type 1.
    Jia X; Yuan J; Jia X; Ling S; Li S; Guo X
    Mol Med Rep; 2017 May; 15(5):3069-3075. PubMed ID: 28339057
    [TBL] [Abstract][Full Text] [Related]  

  • 39. The mouse ocular albinism 1 gene product is an endolysosomal protein.
    Samaraweera P; Shen B; Newton JM; Barsh GS; Orlow SJ
    Exp Eye Res; 2001 Mar; 72(3):319-29. PubMed ID: 11180981
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC.
    Sallmann GB; Bray PJ; Rogers S; Quince A; Cotton RG; Carden SM
    Ophthalmic Genet; 2006 Jun; 27(2):43-9. PubMed ID: 16754205
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.