150 related articles for article (PubMed ID: 32416578)
21. Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
Ajeawung NF; Nguyen TTM; Lu L; Kucharski TJ; Rousseau J; Molidperee S; Atienza J; Gamache I; Jin W; Plon SE; Lee BH; Teodoro JG; Wang LL; Campeau PM
Am J Hum Genet; 2019 Sep; 105(3):625-630. PubMed ID: 31303264
[TBL] [Abstract][Full Text] [Related]
22. 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; 12(21):2837-44. PubMed ID: 12952869
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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; 345(1):403-9. PubMed ID: 16678792
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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. PubMed ID: 21418107
[TBL] [Abstract][Full Text] [Related]
27. Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.
Kaneko H; Takemoto M; Murakami H; Ihara K; Kosaki R; Motegi SI; Taniguchi A; Matsuo M; Yamazaki N; Nishigori C; Takita J; Koshizaka M; Maezawa Y; Yokote K
Pediatr Int; 2022 Jan; 64(1):e15120. PubMed ID: 35616152
[TBL] [Abstract][Full Text] [Related]
28. 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; 14(6):813-25. PubMed ID: 15703196
[TBL] [Abstract][Full Text] [Related]
29. Novel pathogenic variants in the RECQL4 gene causing Rothmund-Thomson syndrome in three Chinese patients.
Zhang Y; Qin W; Wang H; Lin Z; Tang Z; Xu Z
J Dermatol; 2021 Oct; 48(10):1511-1517. PubMed ID: 34155702
[TBL] [Abstract][Full Text] [Related]
30. Human RecQL4 as a Novel Molecular Target for Cancer Therapy.
Balajee AS
Cytogenet Genome Res; 2021; 161(6-7):305-327. PubMed ID: 34474412
[TBL] [Abstract][Full Text] [Related]
31. Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
Mo D; Zhao Y; Balajee AS
Cancer Lett; 2018 Jan; 413():1-10. PubMed ID: 29080750
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. A Chinese patient with Rothmund-Thomson syndrome.
Zeng J; Li J; Liu Y; Liang R; Wang L; Zhou Q; Sun J; Liu Z; Wang WJ; Zhu S
Mol Genet Genomic Med; 2024 Jan; 12(1):e2347. PubMed ID: 38131666
[TBL] [Abstract][Full Text] [Related]
35. 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. PubMed ID: 24067899
[TBL] [Abstract][Full Text] [Related]
36. 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. PubMed ID: 17372760
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. 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]
39. 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. PubMed ID: 22821900
[TBL] [Abstract][Full Text] [Related]
40. [Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation].
Durand F; Castorina P; Morant C; Delobel B; Barouk E; Modiano P
Ann Dermatol Venereol; 2002; 129(6-7):892-5. PubMed ID: 12218919
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]