(Q54174869)

25 May 2018

title

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

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25 May 2018

primary congenital glaucoma

main subject

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2

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25 May 2018

Eleni Aklillu

3

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25 May 2018

André Reis

object named as

André Reis

6

0 references

Magnus Ingelman-Sundberg

4

object named as

Magnus Ingelman-Sundberg

1 reference

25 May 2018

Gabriela Chavarria-Soley

1

object named as

Gabriela Chavarria-Soley

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25 May 2018

author name string

Francesca Pasutto

5

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25 May 2018

Bernd Rautenstrauss

7

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25 May 2018

publication date

1 September 2008

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25 May 2018

published in

Human Mutation

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25 May 2018

volume

29

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25 May 2018

issue

9

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25 May 2018

page(s)

1147-1153

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25 May 2018

The ins and outs of cytochrome P450s.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20786

Roles of cytochrome p450 in development

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Cytochrome P450 gene polymorphism and cancer

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7 January 2021

Anti-apoptotic role of retinoic acid in the inner ear of noise-exposed mice

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7 January 2021

Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population

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7 January 2021

Characterization of common CYP1B1 variants with different capacity for benzo[a]pyrene-7,8-dihydrodiol epoxide formation from benzo[a]pyrene

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7 January 2021

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

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7 January 2021

Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).

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7 January 2021

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

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7 January 2021

Retinoic acid inhibits expression of TNF-alpha and iNOS in activated rat microglia

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7 January 2021

Molecular basis of Peters anomaly in Saudi Arabia

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7 January 2021

Congenital glaucoma and its inheritance

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7 January 2021

An active site substitution, F87V, converts cytochrome P450 BM-3 into a regio- and stereoselective (14S,15R)-arachidonic acid epoxygenase

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7 January 2021

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Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations

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7 January 2021

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

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7 January 2021

Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism

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7 January 2021

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

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7 January 2021

Modification of ocular defects in mouse developmental glaucoma models by tyrosinase

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7 January 2021

How do substrates enter and products exit the buried active site of cytochrome P450cam? 2. Steered molecular dynamics and adiabatic mapping of substrate pathways.

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7 January 2021

Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8- dihydrodiol

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7 January 2021

Characterization and functional analysis of two common human cytochrome P450 1B1 variants

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7 January 2021

CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma

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7 January 2021

RASMOL: biomolecular graphics for all

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7 January 2021

An open conformation of mammalian cytochrome P450 2B4 at 1.6-Å resolution

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7 January 2021

Retinoic acid regulates the expression of dorsoventral topographic guidance molecules in the chick retina

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7 January 2021

Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil

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7 January 2021

Catalytic properties of polymorphic human cytochrome P450 1B1 variants.

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20786

7 January 2021

Maximizing the expression of mammalian cytochrome P-450 monooxygenase activities in yeast cells

1 reference

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7 January 2021

Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly

1 reference

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7 January 2021

Disease gene candidates revealed by expression profiling of retinal ganglion cell development

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20786

1 reference

25 May 2018

1 reference

25 May 2018