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Items: 1 to 20 of 112

1.

RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.

Croteau DL, Rossi ML, Ross J, Dawut L, Dunn C, Kulikowicz T, Bohr VA.

Biochim Biophys Acta. 2012 Nov;1822(11):1727-34. doi: 10.1016/j.bbadis.2012.07.014. Epub 2012 Jul 31.

2.

Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.

Mo D, Zhao Y, Balajee AS.

Cancer Lett. 2018 Jan 28;413:1-10. doi: 10.1016/j.canlet.2017.10.021. Epub 2017 Nov 7. Review.

PMID:
29080750
3.

RECQL4 Regulates p53 Function In Vivo During Skeletogenesis.

Lu L, Harutyunyan K, Jin W, Wu J, Yang T, Chen Y, Joeng KS, Bae Y, Tao J, Dawson BC, Jiang MM, Lee B, Wang LL.

J Bone Miner Res. 2015 Jun;30(6):1077-89. doi: 10.1002/jbmr.2436.

4.

The versatile RECQL4.

Kellermayer R.

Genet Med. 2006 Apr;8(4):213-6. Review.

PMID:
16617241
5.

The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress.

Dietschy T, Shevelev I, Stagljar I.

Cell Mol Life Sci. 2007 Apr;64(7-8):796-802. Review.

PMID:
17364146
6.

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.

Fradin M, Merklen-Djafri C, Perrigouard C, Aral B, Muller J, Stoetzel C, Frouin E, Flori E, Doray B, Dollfus H, Lipsker D.

Dermatology. 2013;226(4):353-7. doi: 10.1159/000351311. Epub 2013 Jul 26.

PMID:
23899764
7.

The mutation spectrum in RECQL4 diseases.

Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M.

Eur J Hum Genet. 2009 Feb;17(2):151-8. doi: 10.1038/ejhg.2008.154. Epub 2008 Aug 20.

8.

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.

Siitonen HA, Kopra O, Kääriäinen H, Haravuori H, Winter RM, Säämänen AM, Peltonen L, Kestilä M.

Hum Mol Genet. 2003 Nov 1;12(21):2837-44. Epub 2003 Sep 2.

PMID:
12952869
9.

RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.

Yin J, Kwon YT, Varshavsky A, Wang W.

Hum Mol Genet. 2004 Oct 15;13(20):2421-30. Epub 2004 Aug 18.

PMID:
15317757
10.

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.

Larizza L, Magnani I, Roversi G.

Cancer Lett. 2006 Jan 28;232(1):107-20. Epub 2005 Nov 3. Review.

PMID:
16271439
11.

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C.

Clin Genet. 2015 Mar;87(3):244-51. doi: 10.1111/cge.12361. Epub 2014 Mar 26.

PMID:
24635570
12.

RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.

Beghini A, Castorina P, Roversi G, Modiano P, Larizza L.

Am J Med Genet A. 2003 Jul 30;120A(3):395-9.

PMID:
12838562
13.

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

Sznajer Y, Siitonen HA, Roversi G, Dangoisse C, Scaillon M, Ziereisen F, Tenoutasse S, Kestilä M, Larizza L.

Eur J Pediatr. 2008 Feb;167(2):175-81. Epub 2007 Mar 20.

PMID:
17372760
14.

A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

Debeljak M, Zver A, Jazbec J.

Am J Med Genet A. 2009 Feb 15;149A(4):755-9. doi: 10.1002/ajmg.a.32736.

PMID:
19291770
15.

A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.

Kellermayer R, Siitonen HA, Hadzsiev K, Kestilä M, Kosztolányi G.

Arch Dermatol. 2005 May;141(5):617-20.

PMID:
15897384
16.

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.

Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, Verloes A.

J Med Genet. 2006 Feb;43(2):148-52. Epub 2005 Jun 17.

17.

The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients.

Jensen MB, Dunn CA, Keijzers G, Kulikowicz T, Rasmussen LJ, Croteau DL, Bohr VA.

Aging (Albany NY). 2012 Nov;4(11):790-802.

18.

Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.

Kitao S, Lindor NM, Shiratori M, Furuichi Y, Shimamoto A.

Genomics. 1999 Nov 1;61(3):268-76.

PMID:
10552928
19.

The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.

Smeets MF, DeLuca E, Wall M, Quach JM, Chalk AM, Deans AJ, Heierhorst J, Purton LE, Izon DJ, Walkley CR.

J Clin Invest. 2014 Aug;124(8):3551-65. doi: 10.1172/JCI75334. Epub 2014 Jun 24.

20.

Nuclear import and retention domains in the amino terminus of RECQL4.

Burks LM, Yin J, Plon SE.

Gene. 2007 Apr 15;391(1-2):26-38. Epub 2006 Dec 8.

PMID:
17250975

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