HuGE Literature Finder
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Identification of OCA2 as a novel locus for the co-morbidity of asthma-plus-eczema.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2021 Jun . Margaritte-Jeannin P, Budu-Aggrey A, Ege M, Madore A M, Linhard C, Mohamdi H, von Mutius E, Granell R, Demenais F, Laprise C, Bouzigon E, Dizier M |
| Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations. BMC medical genetics 2019 Jun 20 (1): 106. Yang Qi, Yi Sheng, Li Mengting, Xie Bobo, Luo Jinsi, Wang Jin, Rong Xiuliang, Zhang Qinle, Qin Zailong, Hang Limei, Feng Shihan, Fan X |
| Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma. Pigment cell & melanoma research 2019 Jun . Nathan Vaishnavi, Johansson Peter A, Palmer Jane M, Howlie Madeleine, Hamilton Hayley R, Wadt Karin, Jönsson Göran, Brooks Kelly M, Pritchard Antonia L, Hayward Nicholas |
| Rare germline variants in known melanoma susceptibility genes in familial melanoma. Human molecular genetics 2017 Oct . Goldstein Alisa M, Xiao Yanzi, Sampson Joshua, Zhu Bin, Rotunno Melissa, Bennett Hunter, Wen Yixuan, Jones Kristine, Vogt Aurelie, Burdette Laurie, Luo Wen, Zhu Bin, Yeager Meredith, Hicks Belynda, Han Jiali, De Vivo Immaculata, Koutros Stella, Andreotti Gabriella, Beane-Freeman Laura, Purdue Mark, Freedman Neal D, Chanock Stephen J, Tucker Margaret A, Yang Xiaohong |
| Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs. The British journal of dermatology 2017 Apr . Wei L, Allain D C, Bernhardt M N, Gillespie J L, Peters S B, Iwenofu O H, Nelson H H, Arron S T, Toland A |
| Clinical evaluation and molecular screening of a large consecutive series of albino patients. Journal of human genetics 2016 Oct . Mauri Lucia, Manfredini Emanuela, Del Longo Alessandra, Veniani Emanuela, Scarcello Manuela, Terrana Roberta, Radaelli Adriano Egidio, Calò Donata, Mingoia Giuseppe, Rossetti Antonella, Marsico Giovanni, Mazza Marco, Gesu Giovanni Pietro, Cristina Patrosso Maria, Penco Silvana, Piozzi Elena, Primignani Pao |
| Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. Journal of dermatological science 2015 Jan 77 (1): 21-7. Kondo Taisuke, Namiki Takeshi, Coelho Sergio G, Valencia Julio C, Hearing Vincent |
| Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations. The Journal of dermatology 2014 Apr 41 (4): 296-302. Yoshizawa Junko, Abe Yuko, Oiso Naoki, Fukai Kazuyoshi, Hozumi Yutaka, Nakamura Tomohiro, Narita Tomohiko, Motokawa Tomonori, Wakamatsu Kazumasa, Ito Shosuke, Kawada Akira, Tamiya Gen, Suzuki Tam |
| SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. Gene 2014 Jan 533 (1): 398-402. Mauri Lucia, Barone Luca, Al Oum Muna, Del Longo Alessandra, Piozzi Elena, Manfredini Emanuela, Stanzial Franco, Benedicenti Francesco, Penco Silvana, Patrosso Maria Cristi |
| Genetic analyses of Chinese patients with digenic oculocutaneous albinism. Chinese medical journal 2013 Jan 126 (2): 226-30. Wei Ai-Hua, Yang Xiu-Min, Lian Shi, Li W |
| Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection? Medical hypotheses 2012 Dec 79 (6): 875-8. Tuli Abbas M, Valenzuela Robert K, Kamugisha Erasmus, Brilliant Murray |
| A global view of the OCA2-HERC2 region and pigmentation. Human genetics 2012 May 131 (5): 683-96. Donnelly Michael P, Paschou Peristera, Grigorenko Elena, Gurwitz David, Barta Csaba, Lu Ru-Band, Zhukova Olga V, Kim Jong-Jin, Siniscalco Marcello, New Maria, Li Hui, Kajuna Sylvester L B, Manolopoulos Vangelis G, Speed William C, Pakstis Andrew J, Kidd Judith R, Kidd Kenneth |
| Distribution of OCA2*481Thr and OCA2*615Arg, associated with hypopigmentation, in several additional populations. Legal medicine (Tokyo, Japan) 2011 Jul 13 (4): 215-7. Yuasa Isao, Harihara Shinji, Jin Feng, Nishimukai Hiroaki, Fujihara Junko, Fukumori Yasuo, Takeshita Haruo, Umetsu Kazuo, Saitou Naru |
| Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. Journal of dermatological science 2011 May 62 (2): 124-7. Wei Aihua, Yang Xiumin, Lian Shi, Li W |
| Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. Molecular vision 2011 17 . Preising MN, Forster H, Gonser M, Lorenz B |
| A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. The Journal of investigative dermatology 2010 Mar 130 (3): 716-24. Wei Aihua, Wang Yu, Long Yan, Wang Yi, Guo Xiaoli, Zhou Zhiyong, Zhu Wei, Liu Juntao, Bian Xuming, Lian Shi, Li W |
| Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. The Journal of investigative dermatology 2010 Feb 130 (2): 520-8. Duffy David L, Zhao Zhen Z, Sturm Richard A, Hayward Nicholas K, Martin Nicholas G, Montgomery Grant |
| Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. Investigative ophthalmology & visual science 2009 Mar 50 (3): 1058-64. Grønskov Karen, Ek Jakob, Sand Annie, Scheller Rudolf, Bygum Anette, Brixen Kim, Brondum-Nielsen Karen, Rosenberg Thom |
| Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2. The Journal of investigative dermatology 2008 Dec 128 (12): 2807-14. Shekar Sri N, Duffy David L, Frudakis Tony, Sturm Richard A, Zhao Zhen Z, Montgomery Grant W, Martin Nicholas |
| Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. The Journal of investigative dermatology 2008 Oct 128 (10): 2442-50. Hutton Saunie M, Spritz Richard |
| SLC45A2: a novel malignant melanoma-associated gene. Human mutation 2008 Sep 29 (9): 1161-7. Fernandez L P, Milne R L, Pita G, Avilés J A, Lázaro P, Benítez J, Ribas |
| Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes. Biochemical genetics 2007 Aug 45 (7-8): 535-42. Yuasa I, Umetsu K, Harihara S, Kido A, Miyoshi A, Saitou N, Dashnyam B, Jin F, Lucotte G, Chattopadhyay P K, Henke L, Henke |
| OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations. Journal of human genetics 2007 52 (8): 690-3. Yuasa Isao, Umetsu Kazuo, Harihara Shinji, Miyoshi Aya, Saitou Naruya, Park Kyung Sook, Dashnyam Bumbein, Jin Feng, Lucotte Gérard, Chattopadhyay Prasanta K, Henke Lotte, Henke Jürg |
| Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. The Journal of investigative dermatology 2006 Jan 126 (1): 85-90. Santiago Borrero Pedro J, Rodríguez-Pérez Yolanda, Renta Jessicca Y, Izquierdo Natalio J, Del Fierro Laura, Muñoz Daniel, Molina Norma López, Ramírez Sonia, Pagán-Mercado Glorivee, Ortíz Idith, Rivera-Caragol Enid, Spritz Richard A, Cadilla Carmen |
| Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. European journal of human genetics : EJHG 2005 Aug 13 (8): 913-20. Jannot Anne-Sophie, Meziani Roubila, Bertrand Guylene, Gérard Benedicte, Descamps Vincent, Archimbaud Alain, Picard Catherine, Ollivaud Laurence, Basset-Seguin Nicole, Kerob Delphine, Lanternier Guy, Lebbe Celeste, Saiag P, Crickx Beatrice, Clerget-Darpoux Françoise, Grandchamp Bernard, Soufir Nadem, Melan-Cohor |
- Page last reviewed:Oct 1, 2021
- Page last updated:May 26, 2022
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