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Items: 17

1.

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

van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP.

Am J Hum Genet. 2010 Feb 12;86(2):262-6. doi: 10.1016/j.ajhg.2010.01.008. Epub 2010 Feb 4.

2.

Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome.

Bharti SK, Khan I, Banerjee T, Sommers JA, Wu Y, Brosh RM Jr.

Cell Mol Life Sci. 2014 Jul;71(14):2625-39. doi: 10.1007/s00018-014-1569-4. Epub 2014 Feb 1. Review.

3.

Disease-causing missense mutations in human DNA helicase disorders.

Suhasini AN, Brosh RM Jr.

Mutat Res. 2013 Apr-Jun;752(2):138-52. doi: 10.1016/j.mrrev.2012.12.004. Epub 2012 Dec 28. Review.

4.

[DNA helicases and human diseases].

Uhring M, Poterszman A.

Med Sci (Paris). 2006 Dec;22(12):1087-94. Review. French.

5.

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

Wu Y, Suhasini AN, Brosh RM Jr.

Cell Mol Life Sci. 2009 Apr;66(7):1209-22. doi: 10.1007/s00018-008-8580-6. Review.

6.

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.

Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J, et al.

Am J Hum Genet. 1995 Jan;56(1):167-74. Review.

7.

[Chromosome instability syndromes].

Germain D, Bernheim A.

Sem Hop. 1983 Dec 1;59(44):3065-79. Review. French.

PMID:
6320395
8.

Mutational analysis of FANCJ helicase.

Guo M, Vidhyasagar V, Talwar T, Kariem A, Wu Y.

Methods. 2016 Oct 1;108:118-29. doi: 10.1016/j.ymeth.2016.04.023. Epub 2016 Apr 21. Review.

PMID:
27107905
9.

Xeroderma pigmentosum and molecular cloning of DNA repair genes.

Boulikas T.

Anticancer Res. 1996 Mar-Apr;16(2):693-708. Review.

PMID:
8687116
10.

Two steps forward, one step back: determining XPD helicase mechanism by single-molecule fluorescence and high-resolution optical tweezers.

Spies M.

DNA Repair (Amst). 2014 Aug;20:58-70. doi: 10.1016/j.dnarep.2014.01.013. Epub 2014 Feb 21. Review.

11.
12.

Chromosome breakage syndromes and cancer.

Duker NJ.

Am J Med Genet. 2002 Oct 30;115(3):125-9. Review.

PMID:
12407692
13.

Disorders of DNA replication and repair.

Auerbach AD, Verlander PC.

Curr Opin Pediatr. 1997 Dec;9(6):600-16. Review.

PMID:
9425594
14.
15.

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.

Itin PH, Sarasin A, Pittelkow MR.

J Am Acad Dermatol. 2001 Jun;44(6):891-920; quiz 921-4. Review.

PMID:
11369901
16.

A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factor.

Egly JM, Coin F.

DNA Repair (Amst). 2011 Jul 15;10(7):714-21. doi: 10.1016/j.dnarep.2011.04.021. Epub 2011 May 17. Review.

PMID:
21592869
17.

Genome stability: What we have learned from cohesinopathies.

Cucco F, Musio A.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):171-8. doi: 10.1002/ajmg.c.31492. Epub 2016 Apr 19. Review.

PMID:
27091086

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