(Q39904714)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Donata Orioli

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Tiziana Nardo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Roberta Guglielmino

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Roberta Ricotti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Sergio Bondanza

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Francesco Benedicenti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Giovanna Zambruno

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Miria Stefanini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

publication date

1 March 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

438-445

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles

18 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Premature aging in mice deficient in DNA repair and transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

The 14th Datta Lecture. TFIIH: from transcription to clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Automated splicing mutation analysis by information theory

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4)photoproducts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Regulation of TFIIH ATPase and kinase activities by TFIIE during active initiation complex formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Nuclear receptors: integration of multiple signalling pathways through phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

7 January 2021

Five polymorphisms in the coding sequence of the xeroderma pigmentosum group D gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

7 January 2021

DNA repair investigations in nine Italian patients affected by trichothiodystrophy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20912

7 January 2021

Identifiers

DOI

10.1002/HUMU.20912

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19085937%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference