*  Mutational analysis of TYR and OCA2 genes in four Chinese families with oculocutaneous albinism | IOVS | ARVO Journals
Purpose: Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by ... Conclusions: This study expands the mutation spectrum of oculocutaneous albinism. It is the first report that c.549_510delGT ... Yun Wang; Mutational analysis of TYR and OCA2 genes in four Chinese families with oculocutaneous albinism. Invest. Ophthalmol. ... Results: Four patients, diagnosed as oculocutaneous albinism, presented with milky skin, white or light brown hair and ...
  http://iovs.arvojournals.org/article.aspx?articleid=2332697
*  Murine Retinal Development, Morphology and Function in Albinism: Potential Implications for Therapeutic Development | IOVS |...
In this study, we characterise the retinal phenotype of the C57BL/6J-c2J null mouse model of oculocutaneous albinism (OCA). ... Purpose : Albinism is a disorder of melanin biosynthesis characterised by abnormal retinal development & visual impairment, for ... Preclinical studies in murine albinism models are essential to develop novel therapeutics. It is necessary to develop a ... Murine Retinal Development, Morphology and Function in Albinism: Potential Implications for Therapeutic Development ...
  http://iovs.arvojournals.org/article.aspx?articleid=2642373
*  Two patients with Hermansky Pudlak Syndrome Type 2 and novel mutations in AP3B1 | Haematologica
We now report two unrelated subjects with HPS2 who show a characteristic clinical phenotype of oculocutaneous albinism, ...
  http://www.haematologica.org/content/early/2009/08/13/haematol.2009.012286
*  MedGen for PubMed (Select 21712187) - MedGen - NCBI
Oculocutaneous albinism. Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair ... Tyrosinase-positive oculocutaneous albinism. Oculocutaneous albinism type 2 (OCA2) is characterized by hypopigmentation of the ... Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected ... Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at ...
  https://www.ncbi.nlm.nih.gov/medgen?LinkName=pubmed_medgen&from_uid=21712187
*  SLC45A2 - Wikipedia
"Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan". American Journal of Human Genetics. 74 (3 ... Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y (January 2005). "A Korean case of oculocutaneous albinism type IV ... GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 4 This article incorporates text from the United States National ... Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript ...
  https://en.wikipedia.org/wiki/SLC45A2
*  UniProtKB/SwissProt variant VAR 022714
Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]: A disorder of pigmentation characterized by reduced biosynthesis of melanin in ... Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Rundshagen U.; Zuehlke C.; Opitz ... Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual ...
  http://web.expasy.org/variant_pages/VAR_022714.html
*  Proceedings of the Royal Society of London B: Biological Sciences
1997 Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. J. Med. Genet. 34, 733-735. (doi:10.1136/jmg.34.9.733) ... 1980 Albinism in Nigeria with delineation of new recessive oculocutaneous type. Clin. Genet. 17, 259-270. (doi:10.1111/j.1399- ... 1997 Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. Hum. ... 1998 Oculocutaneous albinism: clinical, historical and anthropological aspects. Arch. Pediatr. 5, 896-907. (doi:10.1016/S0929- ...
  http://rspb.royalsocietypublishing.org/content/281/1781/20132955.full
*  Oculocutaneous albinism type 4 | definition of oculocutaneous albinism type 4 by Medical dictionary
... oculocutaneous albinism type 4 explanation free. What is oculocutaneous albinism type 4? Meaning of oculocutaneous albinism ... Looking for online definition of oculocutaneous albinism type 4 in the Medical Dictionary? ... oculocutaneous albinism type 4. oculocutaneous albinism type 4. An inherited disorder of pigmentation (OMIM:606574) ... Oculocutaneous albinism type 4 , definition of oculocutaneous albinism type 4 by Medical dictionary https://medical-dictionary. ...
  https://medical-dictionary.thefreedictionary.com/oculocutaneous+albinism+type+4
*  Tyrosinase-Related Protein 1 - CAGS
Mutations in the gene have been linked to Oculocutaneous Albinism, type III, a brown albinism disorder characterized by ... Homozygous TYRP1 mutations, including deletions, missense and nonsense variants have been implicated in Oculocutaneous Albinism ... associated with oculocutaneous albinism type 3, and a heterozygous variant (c.90G,A, p.W30X) was uncovered in exon 1 of the ...
  http://cags.org.ae/ctga/details.aspx?id=2412
*  Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations inTYRP1Gene in Two Chinese Patients | SpringerLink
Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and ... in melanocytes from an individual with Brown oculocutaneous albinism: a new type of albinism classified as "OCA3". American ... Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and ... 2005). Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. Clinical Genetics, 68, 182-184.PubMed ...
  https://link.springer.com/article/10.1007%2Fs12013-011-9234-0
*  William & Mary - Visually Impaired/Blind
Oculocutaneous Albinism (Medline). Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the ... Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at ...
  http://www.wm.edu/offices/deanofstudents/services/studentaccessibilityservices/resources1/conditions/visuallyimpaired/index.php
*  Transforming Growth Factor-Beta-Induced Factor - CAGS
... associated with oculocutaneous albinism type 3, and a heterozygous variant (c.90G,A, p.W30X) was uncovered in exon 1 of the ...
  http://cags.org.ae/ctga/details.aspx?id=2409
*  Oculocutaneous albinism - Wikipedia
Oculocutaneous albinism (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and according to some ... "Oculocutaneous albinism - Genetics Home Reference". http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism http://www.orpha. ... Four types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal ... Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several ...
  https://en.wikipedia.org/wiki/Oculocutaneous_albinism
*  Oculocutaneous albinism type I - Wikipedia
Oculocutaneous Albinism Type I or -Type 1A (OCA1A) is an autosomal recessive skin disease associated with albinism. This type ... of albinism is caused when the gene OCA1 does not function properly. The location of OCA1 may be written as "11q1.4-q2.1", ...
  https://en.wikipedia.org/wiki/Oculocutaneous_albinism_type_I
*  Oculocutaneous albinism - Biology-Online Dictionary
There are two types of albinism in humans, i.e. the oculocutaneous albinism and the ocular albinism. In oculocutaneous albinism ... 2 Oculocutaneous albinism. (2007). Retrieved from http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism ... Oculocutaneous albinism is associated with mutations in genes involved in melanin production within the melanocytes.2 Examples ... Both the oculocutaneous and cutaneous albinisms are typically associated with vision problems such as nystagmus, photophobia, ...
  https://www.biology-online.org/dictionary/Oculocutaneous_albinism
*  Oculocutaneous Albinism - Albinism, Yellow Mutant Summary Report | CureHunter
Oculocutaneous Albinism: Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all ... Albinism, Yellow Mutant; Albinism, Oculocutaneous; Yellow Mutant Albinism; Albinism, Tyrosinase Negative; Albinism, Tyrosinase ... Oculocutaneous Albinism (Albinism, Yellow Mutant). Subscribe to New Research on Oculocutaneous Albinism ... Mutant Albinisms, Yellow; Tyrosinase-Negative Albinism; Tyrosinase-Positive Albinism; Yellow-Mutant Albinism; Albinism, ...
  http://www.curehunter.com/public/keywordSummaryD016115.do
*  Brown Oculocutaneous Albinism | definition of Brown Oculocutaneous Albinism by Medical dictionary
Brown Oculocutaneous Albinism explanation free. What is Brown Oculocutaneous Albinism? Meaning of Brown Oculocutaneous Albinism ... Looking for online definition of Brown Oculocutaneous Albinism in the Medical Dictionary? ... Brown Oculocutaneous Albinism , definition of Brown Oculocutaneous Albinism by Medical dictionary https://medical-dictionary. ... a href='https://medical-dictionary.thefreedictionary.com/Brown+Oculocutaneous+Albinism',Brown Oculocutaneous Albinism,/a,. * ...
  http://medical-dictionary.thefreedictionary.com/Brown+Oculocutaneous+Albinism
*  Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter | Genetics
Baxter, L. L., and W. J. Pavan, 2002 The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors ... Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter. Shoji Fukamachi, Masato ... Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter. Shoji Fukamachi, Masato ... Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter. Shoji Fukamachi, Masato ...
  http://www.genetics.org/content/178/2/761
*  Oculocutaneous albinism type 2 | definition of Oculocutaneous albinism type 2 by Medical dictionary
Oculocutaneous albinism type 2 explanation free. What is Oculocutaneous albinism type 2? Meaning of Oculocutaneous albinism ... Looking for online definition of Oculocutaneous albinism type 2 in the Medical Dictionary? ... Related to Oculocutaneous albinism type 2: ocular albinism type 2, Oculocutaneous albinism type 3, oculocutaneous albinism type ... Oculocutaneous albinism type II, Yellow albinism. Albinism, major groups. Generalized (oculocutaneous) albinism. All 6 subtypes ...
  https://medical-dictionary.thefreedictionary.com/Oculocutaneous+albinism+type+2
*  Refractive profile in oculocutaneous albinism and its correlation with final visual outcome | British Journal of Ophthalmology
Purpose To evaluate the prevalence of refractive errors in different subtypes of oculocutaneous albinism, and to see if there ... Refractive profile in oculocutaneous albinism and its correlation with final visual outcome ... Refractive profile in oculocutaneous albinism and its correlation with final visual outcome ... Astigmatism was the most common visually significant refractive error across all subtypes of albinism. These results may help ...
  http://bjo.bmj.com/content/96/4/537.full
*  A Computational Analysis of Human Tyrosinase to Further Understanding of Oculocutaneous Albinism Type 1 | IOVS | ARVO Journals
Tyr mutations are involved in the genetic disease oculocutaneous albinism type 1 (OCA1), which is described by the complete ( ... A Computational Analysis of Human Tyrosinase to Further Understanding of Oculocutaneous Albinism Type 1 ... A Computational Analysis of Human Tyrosinase to Further Understanding of Oculocutaneous Albinism Type 1 ... A Computational Analysis of Human Tyrosinase to Further Understanding of Oculocutaneous Albinism Type 1. Invest. Ophthalmol. ...
  https://iovs.arvojournals.org/article.aspx?articleid=2559469
*  Oculocutaneous albinism Type 1 mutations indicate changes in the recombinant tyrosinase folding and activity. | IOVS | ARVO...
Purpose: Oculocutaneous albinism Type 1 (OCA1) is an autosomal recessive disorder caused by mutations in the tyrosinase gene. ... Oculocutaneous albinism Type 1 mutations indicate changes in the recombinant tyrosinase folding and activity. ... Oculocutaneous albinism Type 1 mutations indicate changes in the recombinant tyrosinase folding and activity. ... Monika B Dolinska, Paul T Wingfield, Sara Farney, Brian Patrick Brooks, Yuri V Sergeev; Oculocutaneous albinism Type 1 ...
  http://iovs.arvojournals.org/article.aspx?articleid=2334633
*  Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome | Asper Biogene
Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome testing with next generation sequencing of a multigene ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome. NGS panel. Genes. (full. coding ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome *List of diseases covered by ... oculocutaneous albinism) or only the eyes (ocular albinism). ... Oculocutaneous albinism (OCA) is divided into seven types, ...
  https://www.asperbio.com/asper-ophthalmics/oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome-genetic-testing-NGS-panel
*  Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of...
Taisuke Kondo, Takeshi Namiki, Sergio G. Coelho, Julio C. Valencia, Vincent J. Hearing, Oculocutaneous albinism: Developing ... OCA2, the product of the gene defective in oculocutaneous albinism type 2, is a melanosomal membrane protein with restricted ...
  http://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2010.00815.x/full