(Q35969027)

English

Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta

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scholarly article

1 reference

Europe PubMed Central

11 August 2017

Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta (English)

1 reference

Europe PubMed Central

11 August 2017

1 reference

based on heuristic

inferred from title

author name string

Roxana Moslehi

1

1 reference

Europe PubMed Central

11 August 2017

Anil Kumar

2

1 reference

Europe PubMed Central

11 August 2017

James L Mills

3

1 reference

Europe PubMed Central

11 August 2017

Xavier Ambroggio

4

1 reference

Europe PubMed Central

11 August 2017

Caroline Signore

5

1 reference

Europe PubMed Central

11 August 2017

Amiran Dzutsev

6

1 reference

Europe PubMed Central

11 August 2017

publication date

11 January 2012

1 reference

Europe PubMed Central

11 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

11 August 2017

20

1 reference

Europe PubMed Central

11 August 2017

626-631

1 reference

Europe PubMed Central

11 August 2017

6

1 reference

Europe PubMed Central

11 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.249

0 references

Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Crystal Structure of the FeS Cluster–Containing Nucleotide Excision Repair Helicase XPD

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Structure of the DNA Repair Helicase XPD

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Nucleotide excision repair and neurological diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

PROMALS3D: a tool for multiple protein sequence and structure alignments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Structural basis for DNA duplex separation by a superfamily-2 helicase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Genetics of preeclampsia: paradigm shifts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

TM-align: a protein structure alignment algorithm based on the TM-score

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Central osteosclerosis with trichothiodystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

The transcriptional complexity of the TFIIH complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Genomic BLAST: custom-defined virtual databases for complete and unfinished genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

PIBI(D)S: clinical and molecular characterization of a new case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

A yeast four-hybrid system identifies Cdk-activating kinase as a regulator of the XPD helicase, a subunit of transcription factor IIH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Pathogenesis and genetics of pre-eclampsia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Molecular structure of human TFIIH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

T-Coffee: A novel method for fast and accurate multiple sequence alignment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Transcription initiation in Archaea: facts, factors and future aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Fetal and maternal contributions to risk of pre-eclampsia: population based study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

RNA polymerase II transcription initiation: a structural view

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Xeroderma pigmentosum group D patient bearing lentigo maligna without neurological symptoms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

2 October 2017

Enzyme defects in xeroderma pigmentosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

11 July 2018

Mutations in the XPD gene leading to xeroderma pigmentosum symptoms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

11 July 2018

Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

11 July 2018

Delayed sensorineural deafness and skin carcinogenesis in a Japanese xeroderma pigmentosum group D patient.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

11 July 2018

Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

11 July 2018

A case of xeroderma pigmentosum group D determined by photobiological study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

11 July 2018

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy

2 references

https://api.crossref.org/works/10.1038%2FEJHG.2011.249

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355251

24 September 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.249

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.249

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.249

21 January 2018

Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features

1 reference

https://pubmed.ncbi.nlm.nih.gov/22234153

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22234153

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Xeroderma pigmentosum patients from Germany: clinical symptoms and DNA repair characteristics

1 reference

https://pubmed.ncbi.nlm.nih.gov/22234153

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of two Japanese xeroderma pigmentosum patients to complementation group D and their characteristics

1 reference

https://pubmed.ncbi.nlm.nih.gov/22234153

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22234153

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No apparent neurologic defect in a patient with xeroderma pigmentosum complementation group D

1 reference

https://pubmed.ncbi.nlm.nih.gov/22234153

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malignant schwannoma associated with xeroderma pigmentosum in a patient belonging to complementation group D

1 reference

https://pubmed.ncbi.nlm.nih.gov/22234153

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Syndromes associated with trichothiodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22234153

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic hypermutation of Ig genes in patients with xeroderma pigmentosum (XP-D)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22234153

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2011.249

1 reference

Europe PubMed Central

11 August 2017

1 reference

Europe PubMed Central

11 August 2017

1 reference

Europe PubMed Central

11 August 2017

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