CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. (Q37104882)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19234632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability (English)

1 reference

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primary congenital glaucoma

22 January 2020

main subject

congenital disorder

0 references

1 reference

inferred from title

author

Cristina Blanco-Marchite

3

1 reference

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22 January 2020

Julian Garcia Feijoo

4

1 reference

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22 January 2020

Julio Escribano

8

1 reference

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22 January 2020

author name string

Ezequiel Campos-Mollo

1

1 reference

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22 January 2020

María-Pilar López-Garrido

2

1 reference

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22 January 2020

Jesús Peralta

5

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22 January 2020

José Belmonte-Martínez

6

1 reference

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22 January 2020

Carmen Ayuso

7

1 reference

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22 January 2020

publication date

23 February 2009

1 reference

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22 January 2020

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22 January 2020

volume

15

1 reference

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22 January 2020

page(s)

417-431

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Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations.

22 January 2020

cites work

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14 September 2017

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14 September 2017

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14 September 2017

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14 September 2017

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14 September 2017

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14 September 2017

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14 September 2017

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14 September 2017

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14 September 2017

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Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness

14 September 2017

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Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

14 September 2017

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

14 September 2017

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Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function

14 September 2017

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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

14 September 2017

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14 September 2017

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Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2

14 September 2017

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Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance.

14 September 2017

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14 September 2017

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29 September 2017

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Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico

29 September 2017

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Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes

27 June 2018

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27 June 2018

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The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma.

27 June 2018

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Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma

3 September 2018

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Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

3 September 2018

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3 September 2018

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Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma

3 September 2018

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Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France

3 September 2018

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Outcome of surgery on infants younger than 1 month with congenital glaucoma

3 September 2018

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Identification of R368H as a PredominantCYP1B1Allele Causing Primary Congenital Glaucoma in Indian Patients

3 September 2018

1 reference

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Modification of ocular defects in mouse developmental glaucoma models by tyrosinase

3 September 2018

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Arylhydrocarbon receptor-dependent induction of liver and lung cytochromes P450 1A1, 1A2, and 1B1 by polycyclic aromatic hydrocarbons and polychlorinated biphenyls in genetically engineered C57BL/6J mice

3 September 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.

3 September 2018

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Surgical results of combined trabeculotomy-trabeculectomy for developmental glaucoma.

3 September 2018

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cDNA cloning, sequence analysis, and induction by aryl hydrocarbons of a murine cytochrome P450 gene, Cyp1b1.

3 September 2018

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Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene

3 September 2018

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Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1 -Mutated Hepatocellular Adenoma

3 September 2018

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Myocilin gene implicated in primary congenital glaucoma

4 December 2018

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12 December 2020

Primary role of CYP1B1 in Indian juvenile-onset POAG patients

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12 December 2020

Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations

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12 December 2020

Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma

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12 December 2020

Molecular genetics of primary congenital glaucoma in Brazil

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12 December 2020

Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin

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12 December 2020

Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador

1 reference

12 December 2020

Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients

1 reference

12 December 2020

Congenital glaucoma and its inheritance

1 reference

12 December 2020

Simultaneous measurement of cytochrome P4501A catalytic activity and total protein concentration with a fluorescence plate reader

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12 December 2020

Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity

1 reference

12 December 2020

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

1 reference

12 December 2020

[Molecular diagnosis of mutations responsible for recurrent and severe forms of primary congenital glaucoma]

1 reference

12 December 2020

Molecular basis of Peters anomaly in Saudi Arabia

1 reference

12 December 2020

Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19234632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

PubMed publication ID

19234632

1 reference