Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH (Q28588296)

Excision repair cross-complementing rodent repair deficiency, complementation group 2

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Thyroid hormone receptor alpha

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Thyroid hormone receptor beta

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Peroxisome proliferative activated receptor, gamma, coactivator 1 alpha

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4

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Jean-Marc Egly

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Emmanuel Compe

object named as

Emmanuel Compe

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author name string

Monica Malerba

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31 January 2017

Luc Soler

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31 January 2017

Emiliana Borrelli

Signal Transduction and the Control of Gene Expression

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31 January 2017

language of work or name

English

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publication date

1 November 2007

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31 January 2017

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31 January 2017

10

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31 January 2017

1414–1422

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31 January 2017

11

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31 January 2017

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7 January 2021

Transcriptional coactivator complexes

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7 January 2021

Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH

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7 January 2021

Distinct roles for the helicases of TFIIH in transcript initiation and promoter escape

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7 January 2021

Human general transcription factor IIH phosphorylates the C-terminal domain of RNA polymerase II

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7 January 2021

Selective regulation of vitamin D receptor-responsive genes by TFIIH.

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7 January 2021

Stimulation of RAR alpha activation function AF-1 through binding to the general transcription factor TFIIH and phosphorylation by CDK7

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7 January 2021

Dysregulation of the peroxisome proliferator-activated receptor target genes by XPD mutations

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7 January 2021

Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias

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7 January 2021

Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings

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7 January 2021

Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.

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7 January 2021

XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha

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7 January 2021

Thyroid hormone receptors in brain development and function

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7 January 2021

Physiological and molecular basis of thyroid hormone action

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7 January 2021

Thyroid hormones and the brain

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7 January 2021

Thyroid hormone-responsive genes in developing cerebellum include a novel synaptotagmin and a hairless homolog

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7 January 2021

A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy

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7 January 2021

Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction

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7 January 2021

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship

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7 January 2021

Microcephalic cerebrum with hypomyelination in the growth hormone-deficient mouse (lit).

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7 January 2021

Microcephalic cerebrum with hypomyelination in the pygmy mouse (pg)

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7 January 2021

Roles for p53 and p73 during oligodendrocyte development

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7 January 2021

Neuronal expression of synaptotagmin-related gene 1 is regulated by thyroid hormone during cerebellar development.

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7 January 2021

Selective effect of hypothyroidism on expression of myelin markers during development

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7 January 2021

The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor

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7 January 2021

Investigating the allosterism of acyl-CoA:cholesterol acyltransferase (ACAT) by using various sterols: in vitro and intact cell studies

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7 January 2021

A cold-inducible coactivator of nuclear receptors linked to adaptive thermogenesis

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7 January 2021

Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1alpha null mice

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7 January 2021

Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder

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7 January 2021

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

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7 January 2021

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

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7 January 2021

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity

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7 January 2021

An unliganded thyroid hormone receptor causes severe neurological dysfunction

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7 January 2021

Cyclin H binding to the RARalpha activation function (AF)-2 domain directs phosphorylation of the AF-1 domain by cyclin-dependent kinase 7.

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7 January 2021

Sensors and signals: a coactivator/corepressor/epigenetic code for integrating signal-dependent programs of transcriptional response

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7 January 2021

Abnormal heart rate and body temperature in mice lacking thyroid hormone receptor alpha 1

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7 January 2021

Mice devoid of all known thyroid hormone receptors are viable but exhibit disorders of the pituitary-thyroid axis, growth, and bone maturation

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7 January 2021

Neurodevelopmental control by thyroid hormone receptors

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7 January 2021

A combined approach identifies a limited number of new thyroid hormone target genes in post-natal mouse cerebellum.

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7 January 2021