Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. (Q35910871)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22539872%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

title

Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility (English)

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30 January 2020

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Khanh-Nhat Tran-Viet

1

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30 January 2020

Elizabeth St Germain

2

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30 January 2020

Vincent Soler

3

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30 January 2020

Caldwell Powell

4

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30 January 2020

Sing-Hui Lim

5

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30 January 2020

Thomas Klemm

6

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30 January 2020

Seang Mei Saw

7

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30 January 2020

Terri L Young

8

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30 January 2020

publication date

12 April 2012

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30 January 2020

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30 January 2020

volume

18

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30 January 2020

page(s)

937-944

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Mapping rare and common causal alleles for complex human diseases

30 January 2020

cites work

1 reference

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High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2

11 July 2018

1 reference

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Exome sequencing identifies ZNF644 mutations in high myopia

11 July 2018

1 reference

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A genome-wide comparison of the functional properties of rare and common genetic variants in humans

11 July 2018

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Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

11 July 2018

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Genetic heterogeneity in human disease

11 July 2018

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Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

11 July 2018

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Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

11 July 2018

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COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus

11 July 2018

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Control of patterns of corneal innervation by Pax6.

11 July 2018

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Prevalence of refractive error in the United States, 1999-2004.

11 July 2018

1 reference

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A genome-wide scan maps a novel high myopia locus to 5p15.

11 July 2018

1 reference

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Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia

11 July 2018

1 reference

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Genomewide scan of ocular refraction in African-American families shows significant linkage to chromosome 7p15.

11 July 2018

1 reference

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The COL1A1 gene and high myopia susceptibility in Japanese

11 July 2018

1 reference

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Linkage and association of myocilin (MYOC) polymorphisms with high myopia in a Chinese population

11 July 2018

1 reference

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Complex trait genetics of refractive error

11 July 2018

1 reference

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Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome

11 July 2018

1 reference

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A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3335780

The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3335780

The prevalence of refractive errors among adults in the United States, Western Europe, and Australia

11 July 2018

1 reference

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Functional properties of natural human PAX6 and PAX6(5a) mutants

11 July 2018

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An evolutionary analysis of the aetiology and pathogenesis of juvenile-onset myopia.

11 July 2018

1 reference

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Epidemiologic study of the prevalence and severity of myopia among schoolchildren in Taiwan in 2000.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3335780

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

11 July 2018

1 reference

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Mouse Pitx2 deficiency leads to anomalies of the ventral body wall, heart, extra- and periocular mesoderm and right pulmonary isomerism

11 July 2018

1 reference

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Epidemiologic study of ocular refraction among schoolchildren in Taiwan in 1995.

11 July 2018

1 reference

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A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

11 July 2018

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Prevalence of myopia in the United States

11 July 2018

1 reference

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A functional polymorphism at 3'UTR of the PAX6 gene may confer risk for extreme myopia in the Chinese.

11 July 2018

1 reference

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Costs of refractive correction of distance vision impairment in the United States, 1999-2002.

24 September 2018

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A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.

24 September 2018

1 reference

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ZENK expression of retinal glucagon amacrine cells in chicks: the effect of defocus presented in vivo, in vitro and under anesthesia

24 September 2018

1 reference

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Identification of a novel locus on 2q for autosomal dominant high-grade myopia.

24 September 2018

1 reference

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Family-Based Association Analysis of Hepatocyte Growth Factor (HGF) Gene Polymorphisms in High Myopia

24 September 2018

1 reference

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VISION 2020-the right to sight: from strategies to action

14 November 2018

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12 December 2020

The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan

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12 December 2020

Confirmation of Linkage to Ocular Refraction on Chromosome 22q and Identification of a Novel Linkage Region on 1q

1 reference

12 December 2020

[A genome-wide screening for pathological myopia suggests a novel locus on chromosome 15q12 - 13]

1 reference

12 December 2020

New susceptibility locus for high myopia is linked to the uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3.

1 reference

12 December 2020

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases

1 reference

12 December 2020

Genes and environment in refractive error: the twin eye study

1 reference

12 December 2020

Prevalence of myopia in local and international schools in Hong Kong

1 reference

12 December 2020

Axial Length Measurements and Fundus Changes of the Myopic Eye

1 reference

12 December 2020

Expression of Pax-6 mRNA in the retinal degeneration (rd) mouse

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22539872%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

PubMed publication ID

22539872

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