Literature DB >> 1679229

X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28.

C A Graham1, R M Redmond, N C Nevin.   

Abstract

A Northern Ireland family is reported on, in which there is X-linked inheritance of clinical anophthalmos. Multi-point linkage analysis suggests that the gene is localized to the Xq27-28 region (Z = 1.9, Theta = 0.08), though not between the DNA markers DX13 and Factor VIII.

Mesh：

Substances：

Year:  1991        PMID： 1679229     DOI： 10.3109/13816819109023084

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN： 0167-6784


  12 in total

1.  Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Authors:  Hana Abouzeid; Gaëlle Boisset; Tatiana Favez; Mohamed Youssef; Iman Marzouk; Nihal Shakankiry; Nader Bayoumi; Patrick Descombes; Céline Agosti; Francis L Munier; Daniel F Schorderet
Journal:  Am J Hum Genet       Date:  2010-12-30       Impact factor: 11.025

2.  A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.

Authors:  Taraneh Esmailpour; Hamidreza Riazifar; Linan Liu; Sandra Donkervoort; Vincent H Huang; Shreshtha Madaan; Bassem M Shoucri; Anke Busch; Jie Wu; Alexander Towbin; Robert B Chadwick; Adolfo Sequeira; Marquis P Vawter; Guoli Sun; Jennifer J Johnston; Leslie G Biesecker; Riki Kawaguchi; Hui Sun; Virginia Kimonis; Taosheng Huang
Journal:  J Med Genet       Date:  2014-01-15       Impact factor: 6.318

3.  Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14.

Authors:  Hui Li; Jia-Xin Wang; Cheng-Ye Wang; Ping Yu; Qiang Zhou; Yong-Gang Chen; Lu-Hang Zhao; Ya-Ping Zhang
Journal:  Hum Genet       Date:  2007-10-09       Impact factor: 4.132

4.  NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Authors:  Jennifer J Johnston; Kathleen A Williamson; Christopher M Chou; Julie C Sapp; Morad Ansari; Heather M Chapman; David N Cooper; Tabib Dabir; Jeffrey N Dudley; Richard J Holt; Nicola K Ragge; Alejandro A Schäffer; Shurjo K Sen; Anne M Slavotinek; David R FitzPatrick; Thomas M Glaser; Fiona Stewart; Graeme Cm Black; Leslie G Biesecker
Journal:  J Med Genet       Date:  2019-03-06       Impact factor: 6.318

5.  First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.

Authors:  Jillian Casey; Riki Kawaguchi; Maria Morrissey; Hui Sun; Paul McGettigan; Jens E Nielsen; Judith Conroy; Regina Regan; Elaine Kenny; Paul Cormican; Derek W Morris; Peter Tormey; Muireann Ní Chróinín; Breandan N Kennedy; SallyAnn Lynch; Andrew Green; Sean Ennis
Journal:  Hum Mutat       Date:  2011-09-29       Impact factor: 4.878

6.  BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Authors:  Emma Hilton; Jennifer Johnston; Sandra Whalen; Nobuhiko Okamoto; Yoshikazu Hatsukawa; Juntaro Nishio; Hiroshi Kohara; Yoshiko Hirano; Seiji Mizuno; Chiharu Torii; Kenjiro Kosaki; Sylvie Manouvrier; Odile Boute; Rahat Perveen; Caroline Law; Anthony Moore; David Fitzpatrick; Johannes Lemke; Florence Fellmann; François-Guillaume Debray; Florence Dastot-Le-Moal; Marion Gerard; Josiane Martin; Pierre Bitoun; Michel Goossens; Alain Verloes; Albert Schinzel; Deborah Bartholdi; Tanya Bardakjian; Beverly Hay; Kim Jenny; Kathreen Johnston; Michael Lyons; John W Belmont; Leslie G Biesecker; Irina Giurgea; Graeme Black
Journal:  Eur J Hum Genet       Date:  2009-04-15       Impact factor: 4.246

7.  To investigate the necessity of STRA6 upregulation in T cells during T cell immune responses.

Authors:  Rafik Terra; Xuehai Wang; Yan Hu; Tania Charpentier; Alain Lamarre; Ming Zhong; Hui Sun; Jianning Mao; Shijie Qi; Hongyu Luo; Jiangping Wu
Journal:  PLoS One       Date:  2013-12-31       Impact factor: 3.240

8.  Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.

Authors:  Tanya M Bardakjian; Adele S Schneider; David Ng; Jennifer J Johnston; Leslie G Biesecker
Journal:  BMC Med Genet       Date:  2009-12-16       Impact factor: 2.103

Review 9.  Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.

Authors:  Laura Gogoll; Katharina Steindl; Pascal Joset; Markus Zweier; Alessandra Baumer; Christina Gerth-Kahlert; Boris Tutschek; Anita Rauch
Journal:  Am J Med Genet A       Date:  2021-06-01       Impact factor: 2.802

Review 10.  Anophthalmia and microphthalmia.

Authors:  Amit S Verma; David R Fitzpatrick
Journal:  Orphanet J Rare Dis       Date:  2007-11-26       Impact factor: 4.123
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.