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Items: 1 to 20 of 84

1.
Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4
C. C. Kruijt, N. E. Schalij-Delfos, G. C. de Wit, R. J. Florijn, M. M. van Genderen
Sci Rep. 2021; 11: 11572. Published online 2021 Jun 2. doi: 10.1038/s41598-021-90896-y
PMCID:
PMC8172864
AbstractArticlePDF–1.1M
2.
Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan
Katsuhiko Inagaki, Tamio Suzuki, Hiroshi Shimizu, Norihisa Ishii, Yoshinori Umezawa, Joji Tada, Noriaki Kikuchi, Minoru Takata, Kenji Takamori, Mari Kishibe, Michi Tanaka, Yoshinori Miyamura, Shiro Ito, Yasushi Tomita
Am J Hum Genet. 2004 Mar; 74(3): 466–471. Published online 2004 Feb 11. doi: 10.1086/382195
PMCID:
PMC1182260
AbstractArticlePDF–185K
3.
Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4
J. M. Newton, Orit Cohen-Barak, Nobuko Hagiwara, John M. Gardner, Muriel T. Davisson, Richard A. King, Murray H. Brilliant
Am J Hum Genet. 2001 Nov; 69(5): 981–988. Published online 2001 Sep 26. doi: 10.1086/324340
PMCID:
PMC1274374
AbstractArticlePDF–565K
4.
Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter
Shoji Fukamachi, Masato Kinoshita, Taro Tsujimura, Atsuko Shimada, Shoji Oda, Akihiro Shima, Axel Meyer, Shoji Kawamura, Hiroshi Mitani
Genetics. 2008 Feb; 178(2): 761–769. doi: 10.1534/genetics.107.073387
PMCID:
PMC2248340
AbstractArticlePDF–2.0M
5.
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation
Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, Matthieu P. Robert, Valentine Coste, Vincent Michaud, Stéphanie Leclerc-Mercier, Dominique Bremond-Gignac, Benoit Arveiler, Smail Hadj-Rabia
Genes (Basel) 2022 Dec; 13(12): 2198. Published online 2022 Nov 23. doi: 10.3390/genes13122198
PMCID:
PMC9777904
AbstractArticlePDF–513K
6.
Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4
Lola Tóth, Beáta Fábos, Katalin Farkas, Adrienn Sulák, Kornélia Tripolszki, Márta Széll, Nikoletta Nagy
BMC Med Genet. 2017; 18: 27. Published online 2017 Mar 15. doi: 10.1186/s12881-017-0386-7
PMCID:
PMC5353789
AbstractArticlePDF–2.0M
7.
Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia
Andrew R. Cullinane, Thierry Vilboux, Kevin O’Brien, James A. Curry, Dawn M. Maynard, Hannah Carlson-Donohoe, Carla Ciccone, NISC Comparative Sequencing Program, Thomas C. Markello, Meral Gunay-Aygun, Marjan Huizing, William A. Gahl
J Invest Dermatol. Author manuscript; available in PMC 2012 Apr 1.
Published in final edited form as: J Invest Dermatol. 2011 Oct; 131(10): 2017–2025. Published online 2011 Jun 16. doi: 10.1038/jid.2011.157
PMCID:
PMC3174312
AbstractArticlePDF–1.1M
8.
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non‐syndromic oculocutaneous albinism facilitates genetic diagnosis
Zilin Zhong, Li Gu, Xiujie Zheng, Nengjun Ma, Zehua Wu, Juan Duan, Jun Zhang, Jianjun Chen
Pigment Cell Melanoma Res. 2019 Sep; 32(5): 672–686. Published online 2019 May 29. doi: 10.1111/pcmr.12790
PMCID:
PMC6852118
AbstractArticlePDF–3.1M
9.
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism
JUNG MIN KO, JUNG-AH YANG, SEON-YONG JEONG, HYON-JU KIM
Mol Med Rep. 2012 Apr; 5(4): 943–948. Published online 2012 Jan 25. doi: 10.3892/mmr.2012.764
PMCID:
PMC3493039
AbstractArticlePDF–348K
10.
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle
Sophie Rothammer, Elisabeth Kunz, Doris Seichter, Stefan Krebs, Martina Wassertheurer, Ruedi Fries, Gottfried Brem, Ivica Medugorac
Genet Sel Evol. 2017; 49: 73. Published online 2017 Oct 5. doi: 10.1186/s12711-017-0349-7
PMCID:
PMC5628493
AbstractArticlePDF–1.0M
11.
Delineating the genetic heterogeneity of OCA in Hungarian patients
Beáta Fábos, Katalin Farkas, Lola Tóth, Adrienn Sulák, Kornélia Tripolszki, Mariann Tihanyi, Réka Németh, Krisztina Vas, Zsanett Csoma, Lajos Kemény, Márta Széll, Nikoletta Nagy
Eur J Med Res. 2017; 22: 20. Published online 2017 Jun 19. doi: 10.1186/s40001-017-0262-0
PMCID:
PMC5477306
AbstractArticlePDF–967K
12.
A 122.5-Kilobase Deletion of the P Gene Underlies the High Prevalence of Oculocutaneous Albinism Type 2 in the Navajo Population
Zanhua Yi, Nanibaa’ Garrison, Orit Cohen-Barak, Tatiana M. Karafet, Richard A. King, Robert P. Erickson, Michael F. Hammer, Murray H. Brilliant
Am J Hum Genet. 2003 Jan; 72(1): 62–72. Published online 2002 Dec 5. doi: 10.1086/345380
PMCID:
PMC420013
AbstractArticlePDF–257K
13.
Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity
Bum-Ho Bin, Jinhyuk Bhin, Seung Ha Yang, Misun Shin, Yeon-Ju Nam, Dong-Hwa Choi, Dong Wook Shin, Ai-Young Lee, Daehee Hwang, Eun-Gyung Cho, Tae Ryong Lee
PLoS One. 2015; 10(6): e0129273. Published online 2015 Jun 9. doi: 10.1371/journal.pone.0129273
PMCID:
PMC4461305
AbstractArticlePDF–8.0M
14.
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
Bridget A Fernandez, Jane S Green, Ford Bursey, Brendan Barrett, Andrée MacMillan, Sarah McColl, Sara Fernandez, Proton Rahman, Krista Mahoney, Sergio L Pereira, Stephen W Scherer, Kym M Boycott, Michael O Woods
BMC Med Genet. 2012; 13: 111. Published online 2012 Nov 21. doi: 10.1186/1471-2350-13-111
PMCID:
PMC3523052
AbstractArticlePDF–784K
15.
Mutational Analysis of Oculocutaneous Albinism: A Compact Review
Balu Kamaraj, Rituraj Purohit
Biomed Res Int. 2014; 2014: 905472. Published online 2014 Jun 29. doi: 10.1155/2014/905472
PMCID:
PMC4100393
AbstractArticlePDF–2.3M
16.
A Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs
Paige A. Winkler, Kara R. Gornik, David T. Ramsey, Richard R. Dubielzig, Patrick J. Venta, Simon M. Petersen-Jones, Joshua T. Bartoe
PLoS One. 2014; 9(3): e92127. Published online 2014 Mar 19. doi: 10.1371/journal.pone.0092127
PMCID:
PMC3960214
AbstractArticlePDF–9.6M
17.
DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics
Dimitre R. Simeonov, Xinjing Wang, Chen Wang, Yuri Sergeev, Monika Dolinska, Matthew Bower, Roxanne Fischer, David Winer, Genia Dubrovsky, Joan Z. Balog, Marjan Huizing, Rachel Hart, Wadih M. Zein, William A. Gahl, Brian P. Brooks, David R. Adams
Hum Mutat. Author manuscript; available in PMC 2014 Jun 1.
Published in final edited form as: Hum Mutat. 2013 Jun; 34(6): 827–835. Published online 2013 Apr 30. doi: 10.1002/humu.22315
PMCID:
PMC3959784
AbstractArticlePDF–1.1M
18.
The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild
Javier Prado-Martinez, Irene Hernando-Herraez, Belen Lorente-Galdos, Marc Dabad, Oscar Ramirez, Carlos Baeza-Delgado, Carlos Morcillo-Suarez, Can Alkan, Fereydoun Hormozdiari, Emanuele Raineri, Jordi Estellé, Marcos Fernandez-Callejo, Mònica Valles, Lars Ritscher, Torsten Schöneberg, Elisa de la Calle-Mustienes, Sònia Casillas, Raquel Rubio-Acero, Marta Melé, Johannes Engelken, Mario Caceres, Jose Luis Gomez-Skarmeta, Marta Gut, Jaume Bertranpetit, Ivo G Gut, Teresa Abello, Evan E Eichler, Ismael Mingarro, Carles Lalueza-Fox, Arcadi Navarro, Tomas Marques-Bonet
BMC Genomics. 2013; 14: 363. Published online 2013 May 31. doi: 10.1186/1471-2164-14-363
PMCID:
PMC3673836
AbstractArticlePDF–1.0M
19.
Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case
Danyue He, Xiaonan Liu, Tianyu Yao, Jie Hu, Xiaodong Zheng, Lili Tang, Xing Fan
Mol Genet Genomic Med. 2024 Feb; 12(2): e2385. Published online 2024 Feb 9. doi: 10.1002/mgg3.2385
PMCID:
PMC10858317
AbstractArticlePDF–1.9M
20.
Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review
Muhammad Ikram Ullah
Genes (Basel) 2022 Jun; 13(6): 1072. Published online 2022 Jun 16. doi: 10.3390/genes13061072
PMCID:
PMC9222488
AbstractArticlePDF–1.0M

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