Literature DB >> 29023440

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.

Emmanuelle Souzeau, Owen M Siggs, Tiger Zhou, Anna Galanopoulos, Trevor Hodson, Deepa Taranath, Richard A Mills, John Landers, John Pater, James E Smith, James E Elder, Julian L Rait, Paul Giles, Vivek Phakey, Sandra E Staffieri, Lisa S Kearns, Andrew Dubowsky, David A Mackey, Alex W Hewitt, Jonathan B Ruddle, Kathryn P Burdon, Jamie E Craig.   

Abstract

This corrects the article DOI: 10.1038/ejhg.2017.59.

Entities:  

Year:  2017        PMID： 29023440      PMCID： PMC5643974          DOI： 10.1038/ejhg.2017.147

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  8 in total

1.  Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome.

Authors:  Jesús-José Ferre-Fernández; Elena A Sorokina; Samuel Thompson; Ross F Collery; Emily Nordquist; Joy Lincoln; Elena V Semina
Journal:  Hum Mol Genet       Date:  2020-09-29       Impact factor: 6.150

Review 2.  Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.

Authors:  Angela C Gauthier; Janey L Wiggs
Journal:  Exp Eye Res       Date:  2019-12-11       Impact factor: 3.467

3.  A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein.

Authors:  Feng Zhang; Lusi Zhang; Li He; Mengdan Cao; Yuting Yang; Xuanchu Duan; Jingming Shi; Ke Liu
Journal:  Int Ophthalmol       Date:  2021-01-25       Impact factor: 2.031

4.  A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.

Authors:  Rui Wang; Wei-Qian Wang; Xiao-Qin Li; Juan Zhao; Kun Yang; Yong Feng; Meng-Meng Guo; Min Liu; Xing Liu; Xi Wang; Yong-Yi Yuan; Xue Gao; Jin-Cao Xu
Journal:  BMC Med Genomics       Date:  2021-11-22       Impact factor: 3.063

5.  First XEN implantation in Axenfeld- Rieger syndrome: A case report and literature review.

Authors:  Liat Mendel; Ron Eremenko; Lilly Zborowski- Naveh; Maya Kalev-Landoy
Journal:  Am J Ophthalmol Case Rep       Date:  2022-03-10

6.  Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants.

Authors:  Mallika Prem Senthil; Lachlan S W Knight; Deepa Taranath; David A Mackey; Jonathan B Ruddle; Mark Y Chiang; Owen M Siggs; Emmanuelle Souzeau; Jamie E Craig
Journal:  Cornea       Date:  2022-03-30       Impact factor: 3.152

7.  Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations.

Authors:  Hequn Liu; Jesse Barnes; Erika Pedrosa; Nathaniel S Herman; Franklin Salas; Ping Wang; Deyou Zheng; Herbert M Lachman
Journal:  J Neurodev Disord       Date:  2020-05-11       Impact factor: 4.025

Review 8.  Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.

Authors:  Daniel A Balikov; Adam Jacobson; Lev Prasov
Journal:  Genes (Basel)       Date:  2021-09-11       Impact factor: 4.096
  8 in total

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