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Items: 1 to 20 of 95

1.

Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection?

Tuli AM, Valenzuela RK, Kamugisha E, Brilliant MH.

Med Hypotheses. 2012 Dec;79(6):875-8. doi: 10.1016/j.mehy.2012.09.013. Epub 2012 Oct 12.

2.
3.

Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.

Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, Ramsay M.

Hum Mutat. 2000;15(2):166-72. Erratum in: Hum Mutat 2000;16(1):following 86.

PMID:
10649493
4.

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.

Johanson HC, Chen W, Wicking C, Sturm RA.

J Hum Genet. 2010 Feb;55(2):103-11. doi: 10.1038/jhg.2009.130. Epub 2009 Dec 18.

PMID:
20019752
5.

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene.

Puri N, Durbam-Pierre D, Aquaron R, Lund PM, King RA, Brilliant MH.

Hum Genet. 1997 Oct;100(5-6):651-6.

PMID:
9341887
6.
8.

Albinism (OCA2) in Amerindians.

Woolf CM.

Am J Phys Anthropol. 2005;Suppl 41:118-40. Review.

PMID:
16369963
9.

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, Gesu GP, Del Longo A, Piozzi E, Soldà G, Primignani P.

Gene. 2014 Mar 1;537(1):79-84. doi: 10.1016/j.gene.2013.11.102. Epub 2013 Dec 18.

PMID:
24361966
10.

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

Wang Y, Wang Z, Chen M, Fan N, Yang J, Liu L, Wang Y, Liu X.

PLoS One. 2015 Apr 28;10(4):e0125651. doi: 10.1371/journal.pone.0125651. eCollection 2015.

11.

Oculocutaneous albinism in an isolated Tonga community in Zimbabwe.

Lund PM, Puri N, Durham-Pierre D, King RA, Brilliant MH.

J Med Genet. 1997 Sep;34(9):733-5.

12.

A global view of the OCA2-HERC2 region and pigmentation.

Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, Zhukova OV, Kim JJ, Siniscalco M, New M, Li H, Kajuna SL, Manolopoulos VG, Speed WC, Pakstis AJ, Kidd JR, Kidd KK.

Hum Genet. 2012 May;131(5):683-96. doi: 10.1007/s00439-011-1110-x. Epub 2011 Nov 8.

13.
14.

A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.

Yi Z, Garrison N, Cohen-Barak O, Karafet TM, King RA, Erickson RP, Hammer MF, Brilliant MH.

Am J Hum Genet. 2003 Jan;72(1):62-72. Epub 2002 Dec 5.

15.

SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.

Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC.

Gene. 2014 Jan 1;533(1):398-402. doi: 10.1016/j.gene.2013.09.053. Epub 2013 Oct 3.

PMID:
24096233
16.

Distribution of OCA2∗481Thr and OCA2∗615Arg, associated with hypopigmentation, in several additional populations.

Yuasa I, Harihara S, Jin F, Nishimukai H, Fujihara J, Fukumori Y, Takeshita H, Umetsu K, Saitou N.

Leg Med (Tokyo). 2011 Jul;13(4):215-7. doi: 10.1016/j.legalmed.2011.04.003. Epub 2011 May 11.

PMID:
21565543
17.

A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice.

Shoji H, Kiniwa Y, Okuyama R, Yang M, Higuchi K, Mori M.

Exp Anim. 2015;64(2):171-9. doi: 10.1538/expanim.14-0075. Epub 2015 Jan 22.

18.

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.

Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant MH.

Nat Genet. 1994 Jun;7(2):176-9.

PMID:
7920637
19.

OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.

Yuasa I, Umetsu K, Harihara S, Miyoshi A, Saitou N, Park KS, Dashnyam B, Jin F, Lucotte G, Chattopadhyay PK, Henke L, Henke J.

J Hum Genet. 2007;52(8):690-3. Epub 2007 Jun 14.

PMID:
17568986
20.

Association study confirms the role of two OCA2 polymorphisms in normal skin pigmentation variation in East Asian populations.

Eaton K, Edwards M, Krithika S, Cook G, Norton H, Parra EJ.

Am J Hum Biol. 2015 Jul-Aug;27(4):520-5. doi: 10.1002/ajhb.22678. Epub 2015 Mar 23.

PMID:
25809079

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