79 related articles for article (PubMed ID: 26491832)
1. Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana.
Bertolotti A; Lasseaux E; Plaisant C; Trimouille A; Morice-Picard F; Rooryck C; Lacombe D; Couppie P; Arveiler B
Pigment Cell Melanoma Res; 2016 Jan; 29(1):104-6. PubMed ID: 26491832
[No Abstract] [Full Text] [Related]
2. Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene.
Zhang Y; Zhang Y; Liu T; Bai D; Yang X; Li W; Wei A
J Dermatol; 2019 Nov; 46(11):1027-1030. PubMed ID: 31486119
[TBL] [Abstract][Full Text] [Related]
3.
Kumar R; Bansal A; Shukla R; Raj Singh T; Wasudeo Ramteke P; Singh S; Gautam B
J Biomol Struct Dyn; 2019 Aug; 37(13):3513-3523. PubMed ID: 30204049
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
Wei AH; Zang DJ; Zhang Z; Liu XZ; He X; Yang L; Wang Y; Zhou ZY; Zhang MR; Dai LL; Yang XM; Li W
J Invest Dermatol; 2013 Jul; 133(7):1834-40. PubMed ID: 23364476
[TBL] [Abstract][Full Text] [Related]
5. Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.
Yousaf S; Sethna S; Chaudhary MA; Shaikh RS; Riazuddin S; Ahmed ZM
Pigment Cell Melanoma Res; 2020 Jul; 33(4):556-565. PubMed ID: 32274888
[TBL] [Abstract][Full Text] [Related]
6. SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.
Morice-Picard F; Lasseaux E; François S; Simon D; Rooryck C; Bieth E; Colin E; Bonneau D; Journel H; Walraedt S; Leroy BP; Meire F; Lacombe D; Arveiler B
J Invest Dermatol; 2014 Feb; 134(2):568-571. PubMed ID: 23985994
[No Abstract] [Full Text] [Related]
7. Detection of the first OCA6 Italian patient in a large cohort of albino subjects.
Veniani E; Mauri L; Manfredini E; Gesu GP; Patrosso MC; Zelante L; D'Agruma L; Del Longo A; Mazza M; Piozzi E; Penco S; Primignani P
J Dermatol Sci; 2016 Mar; 81(3):208-9. PubMed ID: 26686029
[No Abstract] [Full Text] [Related]
8. A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.
Jalloul AH; Rogasevskaia TP; Szerencsei RT; Schnetkamp PP
J Biol Chem; 2016 Jun; 291(25):13113-23. PubMed ID: 27129268
[TBL] [Abstract][Full Text] [Related]
9. Two Variants in
Mack M; Kowalski E; Grahn R; Bras D; Penedo MCT; Bellone R
G3 (Bethesda); 2017 Aug; 7(8):2799-2806. PubMed ID: 28655738
[TBL] [Abstract][Full Text] [Related]
10. [Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families].
Aquaron R; Berge-Lefranc JL; Badens C; Roche J; Fite A; Sainte-Marie D; Piquion N; Cartault F
Med Trop (Mars); 2005 Nov; 65(6):584-91. PubMed ID: 16555521
[TBL] [Abstract][Full Text] [Related]
11. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
Grønskov K; Ek J; Sand A; Scheller R; Bygum A; Brixen K; Brondum-Nielsen K; Rosenberg T
Invest Ophthalmol Vis Sci; 2009 Mar; 50(3):1058-64. PubMed ID: 19060277
[TBL] [Abstract][Full Text] [Related]
12. Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.
Urtatiz O; Sanabria D; Lattig MC
J Dermatol Sci; 2014 Dec; 76(3):260-2. PubMed ID: 25455140
[No Abstract] [Full Text] [Related]
13. 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; 533(1):398-402. PubMed ID: 24096233
[TBL] [Abstract][Full Text] [Related]
14. Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.
Verhagen JM; Huijmans JG; Williams M; van Ruyven RL; Bergen AA; Wouters CH; Brooks AS
Am J Med Genet A; 2012 Nov; 158A(11):2931-4. PubMed ID: 22987308
[TBL] [Abstract][Full Text] [Related]
15. Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutaneous albinism type 6.
Saito T; Okamura K; Kosaki R; Wakamatsu K; Ito S; Nakajima O; Yamashita H; Hozumi Y; Suzuki T
Pigment Cell Melanoma Res; 2022 Mar; 35(2):212-219. PubMed ID: 34870899
[TBL] [Abstract][Full Text] [Related]
16. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
Patrosso MC; Lando G; Penco S
Hum Genet; 2008 Oct; 124(3):294. PubMed ID: 18846608
[No Abstract] [Full Text] [Related]
17. Reversion mutation of ib oculocutaneous albinism to wild-type pigmentation in medaka fish.
Iida A; Takamatsu N; Hori H; Wakamatsu Y; Shimada A; Shima A; Koga A
Pigment Cell Res; 2005 Oct; 18(5):382-4. PubMed ID: 16162178
[TBL] [Abstract][Full Text] [Related]
18. Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese.
Shimanuki M; Abe Y; Tamiya G; Ueki M; Hozumi Y; Suzuki T
Pigment Cell Melanoma Res; 2015 Mar; 28(2):233-5. PubMed ID: 25469862
[No Abstract] [Full Text] [Related]
19. 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; 537(1):79-84. PubMed ID: 24361966
[TBL] [Abstract][Full Text] [Related]
20. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
Khordadpoor-Deilamani F; Akbari MT; Karimipoor M; Javadi G
Mol Vis; 2015; 21():730-5. PubMed ID: 26167114
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
