Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene (Q24633005)

3

Yvonne

Buys

1 reference

15 January 2024

Megan Priston

5

Megan

Priston

1 reference

15 January 2024

Graham Trope

6

Graham

Trope

1 reference

15 January 2024

Donna Williams-Lyn

7

Donna

American Journal of Human Genetics

Williams-Lyn

1 reference

15 January 2024

language of work or name

English

0 references

publication date

February 2002

0 references

published in

0 references

volume

70

0 references

issue

2

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page(s)

448-60

0 references

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Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia

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Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

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27 September 2017

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27 September 2017

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30 May 2018

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30 May 2018

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Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma

30 May 2018

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Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

30 May 2018

1 reference

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28 November 2018

1 reference

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The influence of CYP2D6 polymorphism on the antiarrhythmic efficacy of propafenone in patients with paroxysmal atrial fibrillation during 3 months propafenone prophylactic treatment.

28 November 2018

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CYP2C19 genotype related effect of omeprazole on intragastric pH and antimicrobial stability

28 November 2018

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Specificity of 17beta-oestradiol and benzo[a]pyrene oxidation by polymorphic human cytochrome P4501B1 variants substituted at residues 48, 119 and 432.

28 November 2018

1 reference

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Is open-angle glaucoma associated with early menopause? The Rotterdam Study

28 November 2018

1 reference

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An influence of variation in the aldosterone synthase gene (CYP11B2) on corticosteroid responses to ACTH in normal human subjects

28 November 2018

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Recombinant TIGR/MYOC increases outflow resistance in the human anterior segment.

28 November 2018

1 reference

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Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.

28 November 2018

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Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384919

Normal range of hearing associated with myocilin Thr377Met.

28 November 2018

1 reference

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Catalytic properties of polymorphic human cytochrome P450 1B1 variants.

28 November 2018

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Clinical phenotype of a Japanese family with primary open angle glaucoma caused by a Pro370Leu mutation in the MYOC/TIGR gene.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384919

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

28 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384919

Predisposing factors for chronic angle-closure glaucoma.

28 November 2018

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Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384919

Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384919

Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384919

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384919

The etiology, symptomatology, and treatment of juvenile glaucoma

28 November 2018

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12 December 2020

The Gly367Arg mutation in the myocilin gene causes adult-onset primary open-angle glaucoma

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IL-1B and IL-1Ra gene polymorphisms and disease severity in rheumatoid arthritis: interaction with their plasma levels

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Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity

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Human CYP1B1 Leu432Val gene polymorphism: ethnic distribution in African-Americans, Caucasians and Chinese; oestradiol hydroxylase activity; and distribution in prostate cancer cases and controls

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A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36

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Association of single nucleotide polymorphisms in the interleukin-4 gene and interleukin-4 receptor gene with Crohn's disease in a British population

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Polymorphisms in P450 CYP1B1 affect the conversion of estradiol to the potentially carcinogenic metabolite 4-hydroxyestradiol

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Expression of the TIGR gene in the iris, ciliary body, and trabecular meshwork of the human eye

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A functional myeloperoxidase polymorphic variant is associated with coronary artery disease in French-Canadians

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Myocilin expression in the astrocytes of the optic nerve head

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Identifiers

DOI

10.1086/338709

1 reference

1175719

1175719

1 reference

1 reference

1 reference