1 |
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.
54
61
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Giordano F...Raposo G
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19717472 |
2009 |
2 |
GPR143 mutational analysis in two Italian families with X-linked ocular albinism.
61
54
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Micale L...Merla G
|
19604113 |
2009 |
3 |
Identification of a novel mutation in a Chinese family with X-linked ocular albinism.
61
54
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Wang Y...Lian S
|
19123159 |
2009 |
4 |
Involvement of OA1, an intracellular GPCR, and G alpha i3, its binding protein, in melanosomal biogenesis and optic pathway formation.
54
61
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Young A...Farber DB
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18378571 |
2008 |
5 |
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.
61
54
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Fang S...Zhang Q
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18978956 |
2008 |
6 |
The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times.
61
54
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Sone M...Orlow SJ
|
17920058 |
2007 |
7 |
New mutations identified in the ocular albinism type 1 gene.
54
61
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Roma C...Zollo M
|
17822861 |
2007 |
8 |
Identification of two novel mutations in families with X-linked ocular albinism.
54
61
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Iannaccone A...Sidjanin DJ
|
17960122 |
2007 |
9 |
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.
61
54
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Liu JY...Wang QK
|
17516023 |
2007 |
10 |
An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1.
61
54
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Piccirillo R...Schiaffino MV
|
16621890 |
2006 |
11 |
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.
61
54
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Vetrini F...Marigo V
|
16550551 |
2006 |
12 |
The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor.
54
61
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Innamorati G...Schiaffino MV
|
16524428 |
2006 |
13 |
Eight previously unidentified mutations found in the OA1 ocular albinism gene.
54
61
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Mayeur H...Abitbol M
|
16646960 |
2006 |
14 |
Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer.
61
54
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Surace EM...Auricchio A
|
16023414 |
2005 |
15 |
The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis.
61
54
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Schiaffino MV...Tacchetti C
|
16029416 |
2005 |
16 |
The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis.
54
61
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Vetrini F...Marigo V
|
15254223 |
2004 |
17 |
Mutational analysis of the OA1 gene in ocular albinism.
54
61
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Camand O...Abitbol M
|
12868035 |
2003 |
18 |
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.
54
61
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Faugere V...Claustres M
|
12515581 |
2003 |
19 |
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.
54
61
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Oetting WS
|
11793467 |
2002 |
20 |
Ocular albinism type 1: more than meets the eye.
61
54
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Shen B...Orlow SJ
|
11549106 |
2001 |
21 |
The mouse ocular albinism 1 gene product is an endolysosomal protein.
61
54
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Samaraweera P...Orlow SJ
|
11180981 |
2001 |
22 |
X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis.
61
54
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Rudolph G...Meitinger T
|
11405065 |
2001 |
23 |
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
61
54
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Bassi MT...Schiaffino MV
|
11214907 |
2001 |
24 |
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.
54
61
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d'Addio M...Schiaffino MV
|
11115845 |
2000 |
25 |
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.
61
54
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Incerti B...Ballabio A
|
11092754 |
2000 |
26 |
Ocular albinism: evidence for a defect in an intracellular signal transduction system.
54
61
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Schiaffino MV...Ballabio A
|
10471510 |
1999 |
27 |
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.
61
54
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Bassi MT...Borsani G
|
10330347 |
1999 |
28 |
Detection of KAL-1 gene deletion with fluorescence in situ hybridization.
61
54
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Hou JW...Wang TR
|
10443071 |
1999 |
29 |
OA1 mutations and deletions in X-linked ocular albinism.
61
54
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Schnur RE...Weleber RG
|
9529334 |
1998 |
30 |
Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene.
61
54
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Tijmes NT...De Jong PT
|
9640203 |
1998 |
31 |
Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene.
54
61
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Newton JM...Barsh GS
|
8921399 |
1996 |
32 |
Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells.
61
54
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Bassi MT...Ballabio A
|
8889556 |
1996 |
33 |
The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.
61
54
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Schiaffino MV...Ballabio A
|
8799153 |
1996 |
34 |
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
54
61
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Schiaffino MV...Meindl A
|
8634705 |
1995 |
35 |
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.
54
61
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Bassi MT...Ballabio A
|
7647783 |
1995 |
36 |
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region.
54
61
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Schiaffino MV...Ballabio A
|
7795590 |
1995 |
37 |
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
54
61
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Lee ST...Spritz RA
|
8302318 |
1994 |
38 |
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.
61
54
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Meindl A...Meitinger T
|
8230160 |
1993 |
39 |
Linkage analysis in X-linked ocular albinism.
61
54
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Schnur RE...Musarella MA
|
1674724 |
1991 |
40 |
Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis.
61
54
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Schnur RE...Nussbaum RL
|
1979048 |
1990 |
41 |
Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis.
61
54
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Bergen AA...Bleeker-Wagemakers EM
|
2280973 |
1990 |
42 |
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
54
61
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Pillers DA...Buist NR
|
2159212 |
1990 |
43 |
Recovery of stereopsis after strabismus surgery in X-linked ocular albinism.
61
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Ma J...MacDonald IM
|
31712039 |
2020 |
44 |
A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1.
61
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Gao X...Zhang M
|
31746431 |
2020 |
45 |
Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.
61
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Birtel J...Herrmann P
|
32013026 |
2020 |
46 |
Evaluation of the iris thickness changes for the Chinese families with GPR143 gene mutations.
61
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Jiang J...Li N
|
31574285 |
2019 |
47 |
[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II].
61
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Tan J...Cai R
|
31813138 |
2019 |
48 |
X-linked ocular albinism: mapping and cloning the gene.
61
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MacDonald IM
|
31836092 |
2019 |
49 |
Clinical and genetic variability in children with partial albinism.
61
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Campbell P...Sergouniotis PI
|
31719542 |
2019 |
50 |
Immunoreactivity of a G protein-coupled l-DOPA receptor GPR143, in Lewy bodies.
61
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Goshima Y...Arai N
|
30590075 |
2019 |