Transcription factors in disease (Q41099948)

26 September 2017

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title

Transcription factors in disease (English)

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26 September 2017

author

Veronica van Heyningen

series ordinal

2

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26 September 2017

D Engelkamp

1

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26 September 2017

publication date

1 June 1996

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Current Opinion in Genetics & Development

26 September 2017

published in

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26 September 2017

volume

6

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26 September 2017

issue

3

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26 September 2017

page(s)

334-342

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The role of activators in assembly of RNA polymerase II transcription complexes

26 September 2017

cites work

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7 January 2021

Structure and function of DNA-binding proteins

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7 January 2021

Structure and function of transcriptional activation domains

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7 January 2021

Transcriptional activation: a complex puzzle with few easy pieces

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7 January 2021

Knockouts. Targeting the mouse genome: a compendium of knockouts (Part I)

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7 January 2021

Targeting the mouse genome: a compendium of knockouts (part II)

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7 January 2021

Targeting the mouse genome: a compendium of knockouts (part III)

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7 January 2021

Chromosomal translocations in human cancer.

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7 January 2021

Pit-1 binding to specific DNA sites as a monomer or dimer determines gene-specific use of a tyrosine-dependent synergy domain

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7 January 2021

The Ames dwarf gene is required for Pit-1 gene activation.

1 reference

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7 January 2021

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

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7 January 2021

A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

PAX genes: what's new in developmental biology and cancer?

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations

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7 January 2021

High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA

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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Mutation of PAX2 in two siblings with renal-coloboma syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Patterning activities of vertebrate hedgehog proteins in the developing eye and brain.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Pax6: more than meets the eye.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans

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7 January 2021

Patterning of the Caenorhabditis elegans head region by the Pax-6 family member vab-3.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Specification of sense-organ identity by a Caenorhabditis elegans Pax-6 homologue

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7 January 2021

Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

A transgenic neuroanatomical marker identifies cranial neural crest deficiencies associated with the Pax3 mutant Splotch

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

The mutational spectrum in Waardenburg syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Insight into the microphthalmia gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

The function and evolution of Msx genes: pointers and paradoxes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Localization of craniosynostosis Adelaide type to 4p16.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Isolation and characterization of a cosmid contig for the GCPS gene region

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

The genetics of Wilms' tumor--a case of disrupted development

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

DNA binding capacity of the WT1 protein is abolished by Denys—Drash syndrome WT1 point mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

The nuclear receptor superfamily: the second decade

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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Resistance to thyroid hormone: an historical overview

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7 January 2021

The androgen receptor gene mutations database.

1 reference

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7 January 2021

A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Male breast cancer and the androgen receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)n-expanded neuronopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

1 reference

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7 January 2021

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Identification of a putative steroidogenic factor-1 response element in the DAX-1 promoter

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Reversal of intrinsic DNA bends in the IFN beta gene enhancer by transcription factors and the architectural protein HMG I(Y)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Disruption of the architectural factor HMGI-C: DNA-binding AT hook motifs fused in lipomas to distinct transcriptional regulatory domains

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Syndromal mental retardation due to mutations in a regulator of gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

A family of transcriptional adaptor proteins targeted by the E1A oncoprotein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Adenoviral ElA-associated protein p300 as a functional homologue of the transcriptional co-activator CBP

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Inhibition of Transcription Elongation by the VHL Tumor Suppressor Protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Dimerization and the control of transcription by Krüppel.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor

1 reference

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7 January 2021

Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man

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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

p53 gene mutation: software and database.

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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Germline p53 mutations and heritable cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Deregulation of PAX-5 by translocation of the Emu enhancer of the IgH locus adjacent to two alternative PAX-5 promoters in a diffuse large-cell lymphoma

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980011-6

7 January 2021

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

1 reference

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7 January 2021

10.1016/S0959-437X(96)80011-6

Identifiers

DOI

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release_ysziko5nkrhx7aexllgur76s5y

26 September 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/ysziko5nkrhx7aexllgur76s5y

24 November 2022

mapped directly with Wikidata item

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