Literature DB >> 23167593

Homozygous truncation of SIX6 causes complex microphthalmia in humans.

M A Aldahmesh, A O Khan, H Hijazi, F S Alkuraya.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 23167593     DOI： 10.1111/cge.12046

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  13 in total

Review 1.  Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.

Authors:  Linda M Reis; Elena V Semina
Journal:  Birth Defects Res C Embryo Today       Date:  2015-06-03

Review 2.  Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.

Authors:  Aman George; Tiziana Cogliati; Brian P Brooks
Journal:  Exp Eye Res       Date:  2020-02-04       Impact factor: 3.467

3.  Distinct cis-acting regions control six6 expression during eye field and optic cup stages of eye formation.

Authors:  Kelley L Ledford; Reyna I Martinez-De Luna; Matthew A Theisen; Karisa D Rawlins; Andrea S Viczian; Michael E Zuber
Journal:  Dev Biol       Date:  2017-04-21       Impact factor: 3.582

4.  Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.

Authors:  Alex Choi; Richard Lao; Paul Ling-Fung Tang; Eunice Wan; Wasima Mayer; Tanya Bardakjian; Gary M Shaw; Pui-Yan Kwok; Adele Schneider; Anne Slavotinek
Journal:  Eur J Hum Genet       Date:  2014-06-18       Impact factor: 4.246

5.  P16INK4a Upregulation Mediated by SIX6 Defines Retinal Ganglion Cell Pathogenesis in Glaucoma.

Authors:  Dorota Skowronska-Krawczyk; Ling Zhao; Jie Zhu; Robert N Weinreb; Guiqun Cao; Jing Luo; Ken Flagg; Sherrina Patel; Cindy Wen; Martin Krupa; Hongrong Luo; Hong Ouyang; Danni Lin; Wenqiu Wang; Gen Li; Yanxin Xu; Oulan Li; Christopher Chung; Emily Yeh; Maryam Jafari; Michael Ai; Zheng Zhong; William Shi; Lianghong Zheng; Michal Krawczyk; Daniel Chen; Catherine Shi; Carolyn Zin; Jin Zhu; Pamela L Mellon; Weiwei Gao; Ruben Abagyan; Liangfang Zhang; Xiaodong Sun; Sheng Zhong; Yehong Zhuo; Michael G Rosenfeld; Yizhi Liu; Kang Zhang
Journal:  Mol Cell       Date:  2015-09-10       Impact factor: 17.970

6.  Genetics and genomic medicine in Saudi Arabia.

Authors:  Fowzan S Alkuraya
Journal:  Mol Genet Genomic Med       Date:  2014-07-30       Impact factor: 2.183

7.  Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open-angle glaucoma.

Authors:  Mohd Hussain Shah; Noemi Tabanera; Subbaiah Ramasamy Krishnadas; Manju R Pillai; Paola Bovolenta; Periasamy Sundaresan
Journal:  Mol Genet Genomic Med       Date:  2017-04-27       Impact factor: 2.183

8.  Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Authors:  Francesc Rudilla; Clara Franco-Jarava; Mónica Martínez-Gallo; Marina Garcia-Prat; Andrea Martín-Nalda; Jacques Rivière; Aina Aguiló-Cucurull; Laura Mongay; Francisco Vidal; Xavier Solanich; Iñaki Irastorza; Juan Luis Santos-Pérez; Jesús Tercedor Sánchez; Ivon Cuscó; Clara Serra; Noelia Baz-Redón; Mónica Fernández-Cancio; Carmen Carreras; José Manuel Vagace; Vicenç Garcia-Patos; Ricardo Pujol-Borrell; Pere Soler-Palacín; Roger Colobran
Journal:  Front Immunol       Date:  2019-10-01       Impact factor: 7.561

9.  Optix defines a neuroepithelial compartment in the optic lobe of the Drosophila brain.

Authors:  Katrina S Gold; Andrea H Brand
Journal:  Neural Dev       Date:  2014-07-29       Impact factor: 3.842

10.  Transcriptome analysis of the zebrafish atoh7-/- Mutant, lakritz, highlights Atoh7-dependent genetic networks with potential implications for human eye diseases.

Authors:  Giuseppina Covello; Fernando J Rossello; Michele Filosi; Felipe Gajardo; Anne-Laure Duchemin; Beatrice F Tremonti; Michael Eichenlaub; Jose M Polo; David Powell; John Ngai; Miguel L Allende; Enrico Domenici; Mirana Ramialison; Lucia Poggi
Journal:  FASEB Bioadv       Date:  2020-06-27
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.