Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships (Q28263910)

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30 December 2019

title

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

1 reference

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nonphotosensitive trichothiodystrophy

30 December 2019

main subject

cell line

0 references

1 reference

1 reference

1

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30 December 2019

Judith Offman

2

1 reference

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30 December 2019

11

Alain Sarasin

1 reference

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30 December 2019

author name string

Tiziana Nardo

3

1 reference

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30 December 2019

Roberta Ricotti

4

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30 December 2019

Giovanna Zambruno

5

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30 December 2019

Daniela Sansone

6

1 reference

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30 December 2019

Paolo Balestri

7

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30 December 2019

Anja Raams

8

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30 December 2019

Wim J Kleijer

9

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30 December 2019

Nicolaas G J Jaspers

10

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30 December 2019

Alan R Lehmann

12

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30 December 2019

Miria Stefanini

13

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30 December 2019

language of work or name

English

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publication date

1 January 2007

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30 December 2019

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30 December 2019

volume

28

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30 December 2019

issue

1

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30 December 2019

page(s)

92-96

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describes a project that uses

30 December 2019

TTD5PV

0 references

cites work

A rapid procedure for measurement of DNA repair in human fibroblasts and for complementation analysis of xeroderma pigmentosum cells.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

DNA repair investigations in nine Italian patients affected by trichothiodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

The RNA polymerase II general transcription factors: past, present, and future.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

Complementation studies in cells from patients affected by trichothiodystrophy with normal or enhanced UV photosensitivity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20419

7 January 2021

Identifiers

DOI

10.1002/HUMU.20419

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

5110703

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16977596%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

30 December 2019

5110703

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference