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Items: 1 to 20 of 214

1.

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
2.

p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization.

Dietschy T, Shevelev I, Pena-Diaz J, Hühn D, Kuenzle S, Mak R, Miah MF, Hess D, Fey M, Hottiger MO, Janscak P, Stagljar I.

J Cell Sci. 2009 Apr 15;122(Pt 8):1258-67. doi: 10.1242/jcs.037747. Erratum in: J Cell Sci. 2009 May 15;122(Pt 10):1701.

3.

The versatile RECQL4.

Kellermayer R.

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

PMID:
16617241
4.

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

Larizza L, Magnani I, Roversi G.

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

PMID:
16271439
5.

Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents.

Cabral RE, Queille S, Bodemer C, de Prost Y, Neto JB, Sarasin A, Daya-Grosjean L.

Mutat Res. 2008 Aug 25;643(1-2):41-7. doi: 10.1016/j.mrfmmm.2008.06.002.

PMID:
18616953
6.

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.

PMID:
17372760
7.

RecQL4: a helicase linking formation and maintenance of a replication fork.

Masai H.

J Biochem. 2011 Jun;149(6):629-31. doi: 10.1093/jb/mvr031.

PMID:
21436139
8.

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.

9.

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.

10.

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.

11.

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
12.

Rothmund-Thomson syndrome helicase, RECQ4: on the crossroad between DNA replication and repair.

Liu Y.

DNA Repair (Amst). 2010 Mar 2;9(3):325-30. doi: 10.1016/j.dnarep.2010.01.006. Review.

PMID:
20096650
13.

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.

Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y.

Nat Genet. 1999 May;22(1):82-4.

PMID:
10319867
14.

Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome.

Mann MB, Hodges CA, Barnes E, Vogel H, Hassold TJ, Luo G.

Hum Mol Genet. 2005 Mar 15;14(6):813-25.

15.

RECQL4 in genomic instability and aging.

Croteau DL, Singh DK, Hoh Ferrarelli L, Lu H, Bohr VA.

Trends Genet. 2012 Dec;28(12):624-31. doi: 10.1016/j.tig.2012.08.003. Review.

16.

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE.

J Natl Cancer Inst. 2003 May 7;95(9):669-74.

17.

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.

18.

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.

19.

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.

PMID:
24635570
20.

RECQ DNA helicases and osteosarcoma.

Lu L, Jin W, Liu H, Wang LL.

Adv Exp Med Biol. 2014;804:129-45. doi: 10.1007/978-3-319-04843-7_7. Review.

PMID:
24924172
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