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Results: 1 to 20 of 23

1.

Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.

López-Lera A, M Torres-Canizales J, Garrido S, Morales A, López-Trascasa M.

J Invest Dermatol. 2014 Apr;134(4):1152-4. doi: 10.1038/jid.2013.444. Epub 2013 Oct 24. No abstract available.

PMID:
24157463
[PubMed - indexed for MEDLINE]
2.

RECQL4 and p53 potentiate the activity of polymerase γ and maintain the integrity of the human mitochondrial genome.

Gupta S, De S, Srivastava V, Hussain M, Kumari J, Muniyappa K, Sengupta S.

Carcinogenesis. 2014 Jan;35(1):34-45. doi: 10.1093/carcin/bgt315. Epub 2013 Sep 25.

PMID:
24067899
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions.

Ferrarelli LK, Popuri V, Ghosh AK, Tadokoro T, Canugovi C, Hsu JK, Croteau DL, Bohr VA.

DNA Repair (Amst). 2013 Jul;12(7):518-28. doi: 10.1016/j.dnarep.2013.04.005. Epub 2013 May 15.

PMID:
23683351
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
23188052
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Activation of p38 MAP kinase and stress signalling in fibroblasts from the progeroid Rothmund-Thomson syndrome.

Davis T, Tivey HS, Brook AJ, Grimstead JW, Rokicki MJ, Kipling D.

Age (Dordr). 2013 Oct;35(5):1767-83. doi: 10.1007/s11357-012-9476-9. Epub 2012 Sep 22.

PMID:
23001818
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.

Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A.

Genes Dev. 2012 Sep 1;26(17):1911-25. doi: 10.1101/gad.193169.112. Epub 2012 Aug 16.

PMID:
22899009
[PubMed - indexed for MEDLINE]
Free PMC Article
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. Epub 2012 Jul 31.

PMID:
22885111
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Chronic tibial nonunion in a Rothmund-Thomson syndrome patient.

Carlson AM, Thomas KB, Kirmani S, Lindor NM.

Am J Med Genet A. 2012 Sep;158A(9):2250-3. doi: 10.1002/ajmg.a.35475. Epub 2012 Jul 20.

PMID:
22821900
[PubMed - indexed for MEDLINE]
10.

Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia.

Meier M, Schwarz A.

Rheumatology (Oxford). 2012 Nov;51(11):2109-11. doi: 10.1093/rheumatology/kes143. Epub 2012 Jun 17. No abstract available.

PMID:
22711845
[PubMed - indexed for MEDLINE]
11.

RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress.

De S, Kumari J, Mudgal R, Modi P, Gupta S, Futami K, Goto H, Lindor NM, Furuichi Y, Mohanty D, Sengupta S.

J Cell Sci. 2012 May 15;125(Pt 10):2509-22. doi: 10.1242/jcs.101501. Epub 2012 Feb 22.

PMID:
22357944
[PubMed - indexed for MEDLINE]
Free Article
12.

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.

PMID:
22039056
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis.

Polese L, Merigliano S, Mungo B, Pennelli G, Norberto L.

Dis Esophagus. 2011 Nov;24(8):E41-4. doi: 10.1111/j.1442-2050.2011.01260.x. Epub 2011 Sep 23.

PMID:
21951866
[PubMed - indexed for MEDLINE]
14.

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C.

Eur J Med Genet. 2012 Jan;55(1):8-11. doi: 10.1016/j.ejmg.2011.07.004. Epub 2011 Aug 18.

PMID:
21872685
[PubMed - indexed for MEDLINE]
15.

Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome.

Carlson AM, Lindor NM, Litzow MR.

Eur J Haematol. 2011 Jun;86(6):536-40. doi: 10.1111/j.1600-0609.2011.01609.x.

PMID:
21418107
[PubMed - indexed for MEDLINE]
16.

The N-terminal region of RECQL4 lacking the helicase domain is both essential and sufficient for the viability of vertebrate cells. Role of the N-terminal region of RECQL4 in cells.

Abe T, Yoshimura A, Hosono Y, Tada S, Seki M, Enomoto T.

Biochim Biophys Acta. 2011 Mar;1813(3):473-9. doi: 10.1016/j.bbamcr.2011.01.001. Epub 2011 Jan 20.

PMID:
21256165
[PubMed - indexed for MEDLINE]
Free Article
17.

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.

PMID:
21143835
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome.

Altunay I, Fisek N, Gokdemir G, Sakız D, Cetincelik U.

Int Wound J. 2010 Dec;7(6):531-5. doi: 10.1111/j.1742-481X.2010.00734.x. Epub 2010 Sep 21.

PMID:
20860557
[PubMed - indexed for MEDLINE]
19.

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I.

Hum Mol Genet. 2010 Nov 15;19(22):4453-61. doi: 10.1093/hmg/ddq371. Epub 2010 Sep 3.

PMID:
20817924
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.

Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C.

Br J Dermatol. 2010 Oct;163(4):866-9. doi: 10.1111/j.1365-2133.2010.09929.x. Epub 2010 Sep 7.

PMID:
20618321
[PubMed - indexed for MEDLINE]

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