|1.||Oculocutaneous Albinism (Albinism, Yellow Mutant)
|3.||Kallmann Syndrome (Kallmann's Syndrome)
|5.||X-Linked Ichthyosis (Ichthyosis, X Linked)
|1.||Masukawa, Daiki: 3 articles (03/2015 - 01/2014)|
|2.||Goshima, Yoshio: 3 articles (03/2015 - 01/2014)|
|3.||Nakamura, Fumio: 3 articles (03/2015 - 01/2014)|
|4.||Schiaffino, Maria Vittoria: 3 articles (02/2014 - 07/2010)|
|5.||Koga, Motokazu: 2 articles (11/2014 - 01/2014)|
|6.||Chen, Sandy: 2 articles (11/2014 - 01/2014)|
|7.||Huang, Xinping: 1 article (11/2015)|
|8.||Jin, Guangyi: 1 article (11/2015)|
|9.||Lin, Xiaotan: 1 article (11/2015)|
|10.||Leung, Peggy: 1 article (11/2015)|
|1.||Monophenol Monooxygenase (Tyrosinase)IBA
03/01/2009 - "The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism."
01/01/1995 - "Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism."
11/01/1994 - "Twenty-five subjects with oculocutaneous albinism (16 tyrosinase negative and 9 tyrosinase positive) and 7 with ocular albinism (5 x-linked and 2 autosomal recessive) participated in the study. "
01/01/2015 - "The tyrosinase gene is known to be involved in both oculocutaneous albinism and autosomal recessive ocular albinism. "
01/01/1980 - "These advances have been in the division of oculocutaneous albinism into tyrosinase-negative and tyrosinase-positive forms, the demonstration of a widespread disturbance in the structure of melanosomes in X-linked ocular albinism, the description of the condition now known as autosomal recessive ocular albinism, and a peculair anatomical abnormality of the visual pathways which appears to be present in all forms of oculocutaneous and ocular albinism. "
|2.||GTP-Binding Proteins (G-Protein)IBA
01/01/2009 - "The purpose of the study was to evaluate the GPR143 gene (G-protein coupled receptor 143) in a Chinese three-generation family with OA1, including four carriers and a proband with clinical features of X-linked ocular albinism. "
02/17/2014 - "Contacts are associated to the melanogenesis process, as indicated by the fact that they are reduced in a model of aberrant melanogenesis whereas they are enhanced both where melanosome biogenesis takes place in the perinuclear area and when it is actively stimulated by OA1, a G protein-coupled receptor implicated in ocular albinism and organellogenesis. "
11/15/2013 - "Here, we focus on the role of the G-protein-coupled receptor OA1 (also known as GPR143), which is expressed exclusively in pigmented cells and mutations in which cause the most common type of ocular albinism. "
01/01/2007 - "Our goal was to evaluate the OA1 gene, also known as G-protein coupled receptor 143 (GPR143), in two United States families, one from the mid-west and one from the mid-south, who had clinical features of X-linked ocular albinism. "
01/01/2007 - "Analysis of 21 candidate genes in the region revealed a novel p.S89F mutation in the second transmembrane domain of GPR143, a G protein-coupled receptor which causes ocular albinism when mutated. "
|3.||DNA (Deoxyribonucleic Acid)IBA
06/01/2006 - "DNA from buccal swabs was obtained for use in denaturing high performance liquid chromatography (DHPLC) and chemical cleavage of mismatch (CCM) to scan several hotspots for X-linked ocular albinism (OA1) mutations. "
01/01/2002 - "Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol."
03/01/2001 - "X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis."
07/01/1994 - "Carrier detection in X linked ocular albinism using linked DNA polymorphisms."
03/01/1992 - "Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis."
09/01/2008 - "To characterize retinal function in human recessive X-linked ocular albinism (OA1) across the normal lifespan. "
09/01/2008 - "Retinal function in X-linked ocular albinism (OA1)."
12/01/1990 - "This pattern of affection reminds of the retinal findings in carrier women for X-linked ocular albinism. "
12/01/1997 - "PCR analysis revealed a deletion which includes at least the portion of the OA1 gene between exons 2 and 8. Affected males with X-linked ocular albinism can have a visual disability that ranges from almost none to legal blindness, and the female carriers can have variable retinal pigmentary appearance. "
01/01/2011 - "Sixty patients with a variety of retinal disorders, including Leber's congenital amaurosis, ocular albinism, pseudoxanthoma elasticum, retinitis pigmentosa, and Stargardt's disease. "
03/01/1992 - "The child's eye findings, pedigree, paucity of maternal ocular changes, and lack of melanin macroglobules in the skin suggest that this individual's phenotype is clinically similar to that of autosomal recessive ocular albinism. "
04/01/1988 - "The reduction in melanin synthesis can involve the skin, hair follicle, and eye, resulting in oculocutaneous albinism, or can be localized primarily to the eye, resulting in ocular albinism. "
01/01/2015 - "Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented eyes (in patients with ocular albinism) or hair, skin, and eyes (in individuals with oculocutaneous albinism). "
01/01/1999 - "Albinism, caused by a deficiency of melanin pigment in the skin, hair, and eye (oculocutaneous albinism [OCA]), or primarily in the eye (ocular albinism [OA]), results from mutations in genes involved in the biosynthesis of melanin pigment. "
08/01/1998 - "Albinism represents a group of inherited abnormalities of the melanin pigment system in which the synthesis of melanin is absent or reduced, generalized (oculocutaneous albinism) or localised (ocular albinism). "
|6.||Steryl-Sulfatase (Steroid Sulfatase)IBA
04/01/1993 - "Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus."
04/01/1991 - "We studied the linkage of X-linked Nettleship-Falls ocular albinism (OA1) to Xp22.1-Xp22.3 RFLPs at 12 loci in five families, including one in which OA1 cosegregates with a deletion of steroid sulfatase (STS). "
11/01/2000 - "X-linked ichthyosis (steroid sulphatase deficiency) and X-linked ocular albinism have been mapped to the Xp22.3 region and cases have been reported with both conditions due to a partial short-arm deletion of the X chromosome. "
11/01/1989 - "Ocular albinism of the Nettleship-Falls type (OA1) and X-linked ichthyosis (XI) due to steroid sulfatase (STS) deficiency are cosegregating in three cytogenetically normal half-brothers. "
04/01/1993 - "Affected members had X-linked ichthyosis due to steroid sulphatase deficiency, Kallmann's syndrome, but no ocular albinism. "
01/01/2014 - "Recently, the gene product of ocular albinism 1 (OA1) was shown to possess DOPA-binding activity. "
01/01/2014 - "Cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1."
01/01/2014 - "Recently, the gene product of ocular albinism 1 (OA1) was found to exhibit DOPA-binding activity. "
01/01/2014 - "The protein Ocular albinism 1 is the orphan GPCR GPR143 and mediates depressor and bradycardic responses to DOPA in the nucleus tractus solitarii."
03/30/2015 - "Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs."
|8.||Ocular Albinism type 1IBA
05/01/2006 - "An intronic point mutation was identified in the ocular albinism type 1 (OA1) gene (HUGO symbol, GPR143) in a family with the X-linked form of ocular albinism. "
03/01/2001 - "To investigate the function of ocular albinism type 1 (OA1), the gene responsible for X-linked ocular albinism, we employed a construct containing murine Oa1 fused to green fluorescent protein (GFP) in a heterologous COS cell expression system. "
12/01/2007 - "OA1 (GPR143) is a pigment cell-specific intracellular glycoprotein consisting of 404 amino acid residues that is mutated in patients with ocular albinism type 1, the most common form of ocular albinism. "
|9.||Oculocutaneous albinism type 2IBA
09/01/1985 - "After describing the clinical features of albinism in general, the authors discuss the various forms of oculocutaneous albinism, ocular albinism, and albinoidism that are of interest to the ophthalmologist. "
04/01/1987 - "Our results indicate that the phenotypical albino classification, which was a base for Witkop et al. (1978) to also obtain a genetical classification, supported by the hairbulb test, has not proved to be useful for the classification of tyrosinase negative (TNOCA), tyrosinase positive oculocutaneous albinism (TPOCA), and autosomal recessive ocular albinism (AROA) as genetically distinct forms. "
07/01/1991 - "From the eye care professional's point of view, the three most common types of albinism are tyrosinase-negative oculocutaneous albinism, tyrosinase-positive oculocutaneous albinism and ocular albinism. "
|10.||Nonsense Codon (Nonsense Mutation)IBA