(Q36142729)

12 August 2017

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome (English)

1 reference

12 August 2017

Warsaw breakage syndrome

1 reference

7

Guy A Rouleau

0 references

José-Mario Capo-Chichi

1

object named as

José-Mario Capo-Chichi

0 references

Jacques L. Michaud

10

object named as

Jacques L Michaud

1 reference

12 August 2017

13

Zoha Kibar

1 reference

12 August 2017

6

Lysanne Patry

1 reference

12 August 2017

Sanjay Kumar Bharti

2

1 reference

12 August 2017

Joshua A Sommers

3

1 reference

12 August 2017

Tony Yammine

4

1 reference

12 August 2017

Eliane Chouery

5

1 reference

12 August 2017

Mark E Samuels

8

1 reference

12 August 2017

Fadi F Hamdan

9

1 reference

12 August 2017

Robert M Brosh

11

1 reference

12 August 2017

André Mégarbane

12

1 reference

12 August 2017

17 October 2012

1 reference

12 August 2017

1 reference

12 August 2017

34

1 reference

12 August 2017

1

1 reference

12 August 2017

103-107

1 reference

Biochemical characterization of Warsaw breakage syndrome helicase

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

Regulation of translocation polarity by helicase domain 1 in SF2B helicases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

Functional and structural studies of the nucleotide excision repair helicase XPD suggest a polarity for DNA translocation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

Welcome the family of FANCJ-like helicases to the block of genome stability maintenance proteins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

The DNA helicase ChlR1 is required for sister chromatid cohesion in mammalian cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

The DNA repair helicases XPD and FancJ have essential iron-sulfur domains

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

Chl1p, a DNA helicase-like protein in budding yeast, functions in sister-chromatid cohesion

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

Characterization of the enzymatic activity of hChlR1, a novel human DNA helicase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4599780

UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23033317

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23033317

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22226

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

23033317

1 reference