272 related articles for article (PubMed ID: 27287744)
21. 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. PubMed ID: 24960165
[TBL] [Abstract][Full Text] [Related]
22. Cancer risk among RECQL4 heterozygotes.
Martin-Giacalone BA; Rideau TT; Scheurer ME; Lupo PJ; Wang LL
Cancer Genet; 2022 Apr; 262-263():107-110. PubMed ID: 35219053
[TBL] [Abstract][Full Text] [Related]
23. 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. PubMed ID: 23683351
[TBL] [Abstract][Full Text] [Related]
24. Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.
Hussain M; Mohammed A; Saifi S; Priya S; Sengupta S
J Biol Chem; 2023 Sep; 299(9):105087. PubMed ID: 37495109
[TBL] [Abstract][Full Text] [Related]
25. 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; 287(1):196-209. PubMed ID: 22039056
[TBL] [Abstract][Full Text] [Related]
26. 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. PubMed ID: 18716613
[TBL] [Abstract][Full Text] [Related]
27. 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; 120A(3):395-9. PubMed ID: 12838562
[TBL] [Abstract][Full Text] [Related]
28. 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. PubMed ID: 21256165
[TBL] [Abstract][Full Text] [Related]
29. 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; 90(3):223-8. PubMed ID: 10678659
[TBL] [Abstract][Full Text] [Related]
30. Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4.
Bhoyrul B; Lindsay H; Robinson R; Stahlschmidt J; Palmer T; Edward S; Clark SM
J Eur Acad Dermatol Venereol; 2018 Jun; 32(6):e221-e223. PubMed ID: 29224249
[No Abstract] [Full Text] [Related]
31. 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; 5():37. PubMed ID: 21143835
[TBL] [Abstract][Full Text] [Related]
32. Four novel RECQL4 mutations in four Chinese patients with Rothmund-Thomson syndrome and analysis of RECQL4 mRNA expression level in one typical patient.
Wang T; Chen L; She Q; Dong Y; Deng Y
J Dermatol Sci; 2018 Sep; 91(3):335-337. PubMed ID: 30007837
[No Abstract] [Full Text] [Related]
33. Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome.
Yokoyama H; Moreno-Andres D; Astrinidis SA; Hao Y; Weberruss M; Schellhaus AK; Lue H; Haramoto Y; Gruss OJ; Antonin W
Life Sci Alliance; 2019 Feb; 2(1):. PubMed ID: 30718377
[TBL] [Abstract][Full Text] [Related]
34. 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. PubMed ID: 18647888
[TBL] [Abstract][Full Text] [Related]
35. The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability.
Petkovic M; Dietschy T; Freire R; Jiao R; Stagljar I
J Cell Sci; 2005 Sep; 118(Pt 18):4261-9. PubMed ID: 16141230
[TBL] [Abstract][Full Text] [Related]
36. Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.
Lorenzo C; Travessa AM; Ferreira AC; Modamio-Høybjør S; Heath KE; Pereira C
Am J Med Genet A; 2023 Jan; 191(1):280-283. PubMed ID: 36164748
[TBL] [Abstract][Full Text] [Related]
37. 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; 125(Pt 10):2509-22. PubMed ID: 22357944
[TBL] [Abstract][Full Text] [Related]
38. A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome.
Zhang J; Yan M; Cheng R; Ni C; Liang J; Li M; Yao Z
J Eur Acad Dermatol Venereol; 2016 Nov; 30(11):e159-e161. PubMed ID: 26515231
[No Abstract] [Full Text] [Related]
39. RECQ DNA Helicases and Osteosarcoma.
Lu L; Jin W; Wang LL
Adv Exp Med Biol; 2020; 1258():37-54. PubMed ID: 32767233
[TBL] [Abstract][Full Text] [Related]
40. RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity.
Croteau DL; Rossi ML; Canugovi C; Tian J; Sykora P; Ramamoorthy M; Wang ZM; Singh DK; Akbari M; Kasiviswanathan R; Copeland WC; Bohr VA
Aging Cell; 2012 Jun; 11(3):456-66. PubMed ID: 22296597
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
