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Items: 1 to 20 of 248

1.

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. Epub 2005 Feb 9.

PMID:
15703196
2.

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
3.

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.

PMID:
12734318
4.

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
5.

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
6.

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
7.

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
8.

Growth retardation and skin abnormalities of the Recql4-deficient mouse.

Hoki Y, Araki R, Fujimori A, Ohhata T, Koseki H, Fukumura R, Nakamura M, Takahashi H, Noda Y, Kito S, Abe M.

Hum Mol Genet. 2003 Sep 15;12(18):2293-9. Epub 2003 Jul 29.

PMID:
12915449
9.

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. Epub 2008 Jun 21.

PMID:
18616953
10.

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
11.
13.

Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.

Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S.

Am J Med Genet. 2000 Jan 31;90(3):223-8.

PMID:
10678659
14.

DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders.

Mohaghegh P, Hickson ID.

Hum Mol Genet. 2001 Apr;10(7):741-6. Review.

PMID:
11257107
15.

RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome.

Werner SR, Prahalad AK, Yang J, Hock JM.

Biochem Biophys Res Commun. 2006 Jun 23;345(1):403-9. Epub 2006 Apr 27.

PMID:
16678792
16.

Cancer predisposition caused by elevated mitotic recombination in Bloom mice.

Luo G, Santoro IM, McDaniel LD, Nishijima I, Mills M, Youssoufian H, Vogel H, Schultz RA, Bradley A.

Nat Genet. 2000 Dec;26(4):424-9.

PMID:
11101838
17.

Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite.

Roversi G, Beghini A, Zambruno G, Paradisi M, Larizza L.

J Hum Genet. 2003;48(2):107-9.

PMID:
12601557
18.

Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome.

Macris MA, Krejci L, Bussen W, Shimamoto A, Sung P.

DNA Repair (Amst). 2006 Feb 3;5(2):172-80. Epub 2005 Oct 7.

PMID:
16214424
19.

Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome.

Sangrithi MN, Bernal JA, Madine M, Philpott A, Lee J, Dunphy WG, Venkitaraman AR.

Cell. 2005 Jun 17;121(6):887-98.

20.

Human diseases deficient in RecQ helicases.

Harrigan JA, Bohr VA.

Biochimie. 2003 Nov;85(11):1185-93.

PMID:
14726023

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