A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation (Q40156345)

18 September 2017

A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation (English)

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18 September 2017

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5

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18 September 2017

R Perveen

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18 September 2017

J Favor

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18 September 2017

R V Jamieson

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18 September 2017

D W Ray

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18 September 2017

20 March 2007

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18 September 2017

Human Molecular Genetics

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18 September 2017

16

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18 September 2017

9

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18 September 2017

1030-1038

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Ascertainment of children with congenital cataract through the National Congenital Anomaly System in England and Wales.

18 September 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Genetics of childhood cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Identification of a major locus for age-related cortical cataract on chromosome 6p12-q12 in the Beaver Dam Eye Study

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Inherited eye disease: cause and late effect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Understanding the molecular genetics of congenital cataract may have wider implications for age related cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Congenital hereditary cataracts

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Mouse mutants as models for congenital retinal disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Regulation of lens fiber cell differentiation by transcription factor c-Maf

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Sequential activation of transcription factors in lens induction

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Dimers, leucine zippers and DNA-binding domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

The Maf transcription factors: regulators of differentiation

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Regulation of c-maf gene expression by Pax6 in cultured cells

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

CREB-binding protein/p300 co-activation of crystallin gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

pitx3 defines an equivalence domain for lens and anterior pituitary placode

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

c-Maf, the gammaD-crystallin Maf-responsive element and growth factor regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Developmental contribution of c-maf in the kidney: distribution and developmental study of c-maf mRNA in normal mice kidney and histological study of c-maf knockout mice kidney and liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Tissue-specific regulation of the mouse alphaA-crystallin gene in lens via recruitment of Pax6 and c-Maf to its promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Transcriptional regulation of mouse alphaB- and gammaF-crystallin genes in lens: opposite promoter-specific interactions between Pax6 and large Maf transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Synergistic transcription activation by Maf and Sox and their subnuclear localization are disrupted by a mutation in Maf that causes cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Regulation of alphaA-crystallin via Pax6, c-Maf, CREB and a broad domain of lens-specific chromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

MafA transcription factor is phosphorylated by p38 MAP kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

8-Bromo-cyclic AMP induces phosphorylation of two sites in SRC-1 that facilitate ligand-independent activation of the chicken progesterone receptor and are critical for functional cooperation between SRC-1 and CREB binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Overview of QTL mapping software and introduction to map manager QT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Glucocorticoids suppress macrophage migration inhibitory factor (MIF) expression in a cell-type-specific manner.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

Dissociation of steroid receptor coactivator 1 and nuclear receptor corepressor recruitment to the human glucocorticoid receptor by modification of the ligand-receptor interface: the role of tyrosine 735

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM048

21 January 2018

Identifiers

DOI

10.1093/HMG/DDM048

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18 September 2017

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