A homozygousSIX6mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation-Reference-Cited by-同舟云学术

A homozygousSIX6mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

Published:2014-04-07 Issue:2 Volume:87 Page:192-195
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Yariz K.O.¹,Sakalar Y.B.²,Jin X.³,Hertz J.³,Sener E.F.¹⁴,Akay H.⁵,Özbek M.N.⁶,Farooq A.⁷,Goldberg J.³⁸,Tekin M.¹

Affiliation:

1. Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine; University of Miami; Miami FL USA

2. Department of Ophthalmology; Kocaeli Derince Training and Research Hospital; Derince Kocaeli Turkey

3. Bascom Palmer Eye Institute and Interdisciplinary Stem Cell Institute; Miller School of Medicine, University of Miami; Miami FL USA

4. Department of Medical Genetics; Erciyes University School of Medicine; Kayseri Turkey

5. Department of Radiology, Istanbul Zeynep Kamil Maternity and Children Training and Research Hospital; Istanbul Turkey

6. Department of Endocrinology; Diyarbakir Children's Hospital; Diyarbakir Turkey

7. Department of Biochemistry and Molecular Biology; Miller School of Medicine, University of Miami; Miami FL USA

8. Shiley Eye Center; University of California San Diego; La Jolla CA USA

Funder

Hayward Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference8 articles.

1. Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy;Iseri;Hum Genet,2010

2. The six family of homeobox genes in development and cancer;Christensen;Adv Cancer Res,2008

3. Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation;Heanue;Genes Dev,1999

4. The optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific genes;Toy;Proc Natl Acad Sci U S A,1998

5. Hypothalamic dysregulation and infertility in mice lacking the homeodomain protein Six6;Larder;J Neurosci,2011

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular genetics of primary open-angle glaucoma;Indian Journal of Ophthalmology;2023-05

2. A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous <i>SIX6</i> Variant;Case Reports in Ophthalmology;2022-10-27

3. The SIX Family of Transcription Factors: Common Themes Integrating Developmental and Cancer Biology;Frontiers in Cell and Developmental Biology;2021-08-19

4. Coinheritance of OLFM2 and SIX6 variants in a Chinese family with juvenile-onset primary open-angle glaucoma: A case report;World Journal of Clinical Cases;2021-01-26