| 1 |
Ocular albinism with infertility and late-onset sensorineural hearing loss. ( 30160833
)
|
Fabian-Jessing BK...Petersen MB
|
2018 |
| 2 |
Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143. ( 30513407
)
|
Baulier E...Farber DB
|
2018 |
| 3 |
Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability. ( 30555098
)
|
Jung JH...Choi JH
|
2018 |
| 4 |
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. ( 27720922
)
|
De Filippo E....Manga P.
|
2017 |
| 5 |
Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism. ( 28632878
)
|
De Filippo E....Schiedel A.C.
|
2017 |
| 6 |
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism. ( 28211458
)
|
Zou X....Sui R.
|
2017 |
| 7 |
GPR143 mutations in Chinese patients with ocular albinism type 1. ( 28339057
)
|
Jia X....Guo X.
|
2017 |
| 8 |
Author Response: Comment on "Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism". ( 28910827
)
|
De Filippo E....Schiedel A.C.
|
2017 |
| 9 |
Comment on "Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism". ( 28910826
)
|
McKay B.S....Stamer W.D.
|
2017 |
| 10 |
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ( 28234808
)
|
Khan K.N....Michaelides M.
|
2017 |
| 11 |
[Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism]. ( 28397224
)
|
Zhao Q....Wan H.
|
2017 |
| 12 |
[Oculocutaneous and ocular albinism]. ( 29018889
)
|
|
2017 |
| 13 |
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. ( 28854565
)
|
|
2017 |
| 14 |
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. ( 28144890
)
|
|
2017 |
| 15 |
Failed Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment Repair in Ocular Albinism: Clues to the Role of Melanin in Retinal Pigment Epithelium Pump Function. ( 29253306
)
|
|
2017 |
| 16 |
A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism. ( 27462254
)
|
Miki M....Ikeda T.
|
2016 |
| 17 |
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. ( 27225848
)
|
Miyamichi D....Matsumoto N.
|
2016 |
| 18 |
Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes. ( 26778432
)
|
Sun L....Cao C.
|
2016 |
| 19 |
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism. ( 27607449
)
|
|
2016 |
| 20 |
Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism. ( 27344970
)
|
|
2016 |
| 21 |
Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes. ( 27690000
)
|
Chen T...Dong C
|
2016 |
| 22 |
Deep intronic GPR143 mutation in a Japanese family with ocular albinism. ( 26061757
)
|
Naruto T....Imoto I.
|
2015 |
| 23 |
Brown's syndrome with ocular albinism: Case report of a rare presentation and literature review. ( 26622141
)
|
Nambiar S....Swaminathan M.
|
2015 |
| 24 |
A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient. ( 26547501
)
|
|
2015 |
| 25 |
Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs. ( 25601010
)
|
|
2015 |
| 26 |
Localization of ocular albinism-1 gene product GPR143 in the rat central nervous system. ( 25108060
)
|
Masukawa D....Goshima Y.
|
2014 |
| 27 |
The protein Ocular albinism 1 is the orphan GPCR GPR143 and mediates depressor and bradycardic responses to DOPA in the nucleus tractus solitarii. ( 24117106
)
|
Hiroshima Y....Goshima Y.
|
2014 |
| 28 |
Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism. ( 24526317
)
|
SepA_lveda-VA!zquez H.E....GarcA-a-Aguirre G.
|
2014 |
| 29 |
Visual electrophysiology in the clinical evaluation of optic neuritis, chiasmal tumours, achiasmia, and ocular albinism: an overview. ( 24962442
)
|
Brecelj J.
|
2014 |
| 30 |
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey. ( 25373814
)
|
|
2014 |
| 31 |
The cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1. ( 25185585
)
|
|
2014 |
| 32 |
Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion. ( 24478262
)
|
|
2014 |
| 33 |
Ocular albinism type 1-induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway. ( 24736838
)
|
|
2014 |
| 34 |
A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree. ( 24301936
)
|
Cai C.Y....Li W.D.
|
2013 |
| 35 |
A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism. ( 22916221
)
|
Yan N...Liu X
|
2012 |
| 36 |
The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. ( 21730137
)
|
|
2011 |
| 37 |
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. ( 20649618
)
|
Martinez-Garcia M....Trujillo-Tiebas M.J.
|
2010 |
| 38 |
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. ( 21274678
)
|
Ohtsubo M....Hotta Y.
|
2010 |
| 39 |
Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. ( 21348135
)
|
|
2010 |
| 40 |
Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. ( 20806075
)
|
Renugadevi K...Sundaresan P
|
2010 |
| 41 |
The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition. ( 19717472
)
|
Giordano F....Raposo G.
|
2009 |
| 42 |
Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. ( 19139336
)
|
Chong G.T....Toth C.A.
|
2009 |
| 43 |
GPR143 mutational analysis in two Italian families with X-linked ocular albinism. ( 19604113
)
|
Micale L....Merla G.
|
2009 |
| 44 |
Identification of a novel mutation in a Chinese family with X-linked ocular albinism. ( 19123159
)
|
Wang Y....Lian S.
|
2009 |
| 45 |
Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision. ( 20006830
)
|
|
2009 |
| 46 |
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. ( 19938076
)
|
|
2009 |
| 47 |
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. ( 19208379
)
|
|
2009 |
| 48 |
Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. ( 19610097
)
|
Xiao X...Zhang Q
|
2009 |
| 49 |
Ocular albinism and hypopigmentation defects in Slc24a5-/- mice. ( 18424845
)
|
Vogel P....Rice D.S.
|
2008 |
| 50 |
Retinal function in X-linked ocular albinism (OA1). ( 18798082
)
|
Nusinowitz S....Sarraf D.
|
2008 |
