(Q40156345)

18 September 2017

title

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

1

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18 September 2017

J Favor

series ordinal

2

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18 September 2017

R V Jamieson

series ordinal

3

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18 September 2017

D W Ray

series ordinal

4

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18 September 2017

publication date

20 March 2007

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18 September 2017

published in

Human Molecular Genetics

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18 September 2017

volume

16

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18 September 2017

issue

9

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18 September 2017

page(s)

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

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

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

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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

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

21 January 2018

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

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

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

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Sequential activation of transcription factors in lens induction

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A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

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

21 January 2018

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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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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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MafA transcription factor is phosphorylated by p38 MAP kinase

21 January 2018

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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

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21 January 2018

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21 January 2018

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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

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDM048

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18 September 2017

1 reference