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Items: 1 to 20 of 46

1.

The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.

Ng AJ, Walia MK, Smeets MF, Mutsaers AJ, Sims NA, Purton LE, Walsh NC, Martin TJ, Walkley CR.

PLoS Genet. 2015 Apr 10;11(4):e1005160. doi: 10.1371/journal.pgen.1005160. eCollection 2015 Apr.

2.

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.

3.

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.

4.

Clinical utility gene card for: Rothmund-Thomson syndrome.

Larizza L, Roversi G, Verloes A.

Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.260. Epub 2012 Nov 28. No abstract available.

5.

RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance.

Ghosh AK, Rossi ML, Singh DK, Dunn C, Ramamoorthy M, Croteau DL, Liu Y, Bohr VA.

J Biol Chem. 2012 Jan 2;287(1):196-209. doi: 10.1074/jbc.M111.295063. Epub 2011 Oct 28.

6.

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.

De Somer L, Wouters C, Morren MA, De Vos R, Van Den Oord J, Devriendt K, Meyts I.

Orphanet J Rare Dis. 2010 Dec 8;5:37. doi: 10.1186/1750-1172-5-37.

7.

Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review.

Simon T, Kohlhase J, Wilhelm C, Kochanek M, De Carolis B, Berthold F.

Am J Med Genet A. 2010 Jun;152A(6):1575-9. doi: 10.1002/ajmg.a.33427. Review.

PMID:
20503338
8.

The involvement of human RECQL4 in DNA double-strand break repair.

Singh DK, Karmakar P, Aamann M, Schurman SH, May A, Croteau DL, Burks L, Plon SE, Bohr VA.

Aging Cell. 2010 Jun;9(3):358-71. doi: 10.1111/j.1474-9726.2010.00562.x. Epub 2010 Mar 6.

9.

Rothmund-Thomson syndrome.

Larizza L, Roversi G, Volpi L.

Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. Review.

10.

Direct and indirect roles of RECQL4 in modulating base excision repair capacity.

Schurman SH, Hedayati M, Wang Z, Singh DK, Speina E, Zhang Y, Becker K, Macris M, Sung P, Wilson DM 3rd, Croteau DL, Bohr VA.

Hum Mol Genet. 2009 Sep 15;18(18):3470-83. doi: 10.1093/hmg/ddp291. Epub 2009 Jun 29.

11.

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
12.

Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development.

Wu J, Capp C, Feng L, Hsieh TS.

Dev Biol. 2008 Nov 1;323(1):130-42. doi: 10.1016/j.ydbio.2008.08.006. Epub 2008 Aug 15.

13.

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.

14.

Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.

Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, Guillerman RP, Wang LL.

AJR Am J Roentgenol. 2008 Aug;191(2):W62-6. doi: 10.2214/AJR.07.3619.

PMID:
18647888
15.

Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.

Jin W, Liu H, Zhang Y, Otta SK, Plon SE, Wang LL.

Hum Genet. 2008 Jul;123(6):643-53. doi: 10.1007/s00439-008-0518-4. Epub 2008 May 27.

16.

Amelanotic melanoma in a patient with Rothmund-Thomson syndrome.

Howell SM, Bray DW.

Arch Dermatol. 2008 Mar;144(3):416-7. doi: 10.1001/archderm.144.3.416. No abstract available.

PMID:
18347307
17.

Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review.

Stinco G, Governatori G, Mattighello P, Patrone P.

J Dermatol. 2008 Mar;35(3):154-61. doi: 10.1111/j.1346-8138.2008.00436.x. Review.

PMID:
18346259
18.

Possible involvement of RecQL4 in the repair of double-strand DNA breaks in Xenopus egg extracts.

Kumata Y, Tada S, Yamanada Y, Tsuyama T, Kobayashi T, Dong YP, Ikegami K, Murofushi H, Seki M, Enomoto T.

Biochim Biophys Acta. 2007 Apr;1773(4):556-64. Epub 2007 Jan 18.

19.

Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome.

Hicks MJ, Roth JR, Kozinetz CA, Wang LL.

J Clin Oncol. 2007 Feb 1;25(4):370-5.

20.
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