Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age. (Q46172936)

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scientific article published on 22 October 2013

Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation–differentiation balance early in life and optic nerve degeneration at old age

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English	Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.	scientific article published on 22 October 2013	Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation–differentiation balance early in life and optic nerve degeneration at old age

Statements

scholarly article

1 reference

Europe PubMed Central

20 December 2017

http://europepmc.org/abstract/MED/24150847

Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age. (English)

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Europe PubMed Central

20 December 2017

http://europepmc.org/abstract/MED/24150847

SIX homeobox 6b

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GOA release 2020-03-11

nerve degeneration

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based on heuristic

inferred from title

Robert M Verdijk

12

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Europe PubMed Central

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http://europepmc.org/abstract/MED/24150847

André Uitterlinden

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object named as

André G Uitterlinden

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http://europepmc.org/abstract/MED/24150847

Henriët Springelkamp

2

object named as

Henriët Springelkamp

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Wilfred F J van IJcken

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Wilfred F J van Ijcken

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object named as

Najaf Amin

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Cornelia M. van Duijn

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Cornelia M van Duijn

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Albert Hofman

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Europe PubMed Central

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http://europepmc.org/abstract/MED/24150847

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Christel E M Kockx

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Ben Oostra

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Caroline C Klaver

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Caroline C W Klaver

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Herma C van der Linde

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Herma van der Linde

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Adriana I Iglesias

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Adriana I Iglesias

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Rob Willemsen

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Mirjam C G N van den Hout

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object named as

Mirjam C G N van den Hout

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http://europepmc.org/abstract/MED/24150847

author name string

Henriët Springelkamp

2

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Europe PubMed Central

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http://europepmc.org/abstract/MED/24150847

Lies-Anne Severijnen

4

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publication date

22 October 2013

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http://europepmc.org/abstract/MED/24150847

Human Molecular Genetics

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1320-1332

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Europe PubMed Central

20 December 2017

http://europepmc.org/abstract/MED/24150847

Genetic architecture of open angle glaucoma and related determinants

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Ocular perfusion pressure and the incidence of glaucoma: real effect or artifact? The Rotterdam Study

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Size of the physiologic cup of the optic nerve head. hereditary and environmental factors

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Six6 (Optx2) is a novel murine Six3-related homeobox gene that demarcates the presumptive pituitary/hypothalamic axis and the ventral optic stalk

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Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies

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Cloning of the human SIX1 gene and its assignment to chromosome 14

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Pax3 is essential for skeletal myogenesis and the expression of Six1 and Eya2.

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Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population

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CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies

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CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States

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A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma

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Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma.

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21 January 2018

Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese

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21 January 2018

Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma

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21 January 2018

p15Ink4b is a critical tumour suppressor in the absence of p16Ink4a

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A method and server for predicting damaging missense mutations

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Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

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The Genotype-Tissue Expression (GTEx) project

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Exon-level expression profiling of ocular tissues

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21 January 2018

Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma

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21 January 2018

The optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific genes

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Six9 (Optx2), a new member of the six gene family of transcription factors, is expressed at early stages of vertebrate ocular and pituitary development.

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21 January 2018

Expression analysis of SIX3 and SIX6 in human tissues reveals differences in expression and a novel correlation between the expression of SIX3 and the genes encoding isocitrate dehyhrogenase and cadherin 18.

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Cloning and expression of xSix3, the Xenopus homologue of murine Six3.

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Six3 promotes the formation of ectopic optic vesicle-like structures in mouse embryos

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Retinal stem cells in vertebrates: parallels and divergences

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Molecular characterization of retinal stem cells and their niches in adult zebrafish

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Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.

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Giant eyes in Xenopus laevis by overexpression of XOptx2.

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Six3 overexpression initiates the formation of ectopic retina

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Expanded retina territory by midbrain transformation upon overexpression of Six6 (Optx2) in Xenopus embryos

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Direct interaction of geminin and Six3 in eye development

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Six3 and Six6 activity is modulated by members of the groucho family

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Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma.

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Identifiers

10.1093/HMG/DDT522

1 reference

Europe PubMed Central

20 December 2017

http://europepmc.org/abstract/MED/24150847

1 reference

Europe PubMed Central

20 December 2017

http://europepmc.org/abstract/MED/24150847

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