XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression (Q45820544)

16 December 2017

title

XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression (English)

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16 December 2017

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7

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16 December 2017

author name string

Donata Orioli

1

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16 December 2017

Emmanuel Compe

2

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16 December 2017

Tiziana Nardo

3

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16 December 2017

Manuela Mura

4

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16 December 2017

Christophe Giraudon

5

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16 December 2017

Elena Botta

6

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16 December 2017

Fiorenzo A Peverali

8

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16 December 2017

Jean Marc Egly

9

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16 December 2017

Miria Stefanini

10

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16 December 2017

publication date

5 December 2012

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16 December 2017

published in

Human Molecular Genetics

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16 December 2017

volume

22

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16 December 2017

issue

6

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16 December 2017

page(s)

1061-1073

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16 December 2017

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

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TFIIH: when transcription met DNA repair.

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DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor

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Nucleotide excision repair and the link with transcription

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Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

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

21 January 2018

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Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients

21 January 2018

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

21 January 2018

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

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Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH

21 January 2018

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Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

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

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Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia.

21 January 2018

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Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy

21 January 2018

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Repair characteristics and differentiation propensity of long-term cultures of epidermal keratinocytes derived from normal and NER-deficient mice

21 January 2018

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A temperature-sensitive disorder in basal transcription and DNA repair in humans

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Evidence that phosphorylation of the RNA polymerase II carboxyl-terminal repeats is similar in yeast and humans.

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Activation of estrogen receptor alpha by S118 phosphorylation involves a ligand-dependent interaction with TFIIH and participation of CDK7

21 January 2018

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Cell density modulates protein-tyrosine phosphorylation

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The Hippo-YAP pathway in organ size control and tumorigenesis: an updated version

21 January 2018

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Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

21 January 2018

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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

21 January 2018

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Rac3-induced neuritogenesis requires binding to Neurabin I

21 January 2018

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True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.

21 January 2018

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Cockayne syndrome B protein regulates the transcriptional program after UV irradiation

21 January 2018

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Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7

21 January 2018

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MatInspector and beyond: promoter analysis based on transcription factor binding sites

21 January 2018

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DNA repair investigations in nine Italian patients affected by trichothiodystrophy.

21 January 2018

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Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

21 January 2018

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Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.

21 January 2018

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Molecular consequences of dominant Bethlem myopathy collagen VI mutations

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDS508

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16 December 2017

PubMed ID

23221806

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16 December 2017