Terms: = Skin cancer AND RECQL4, RecQ4, 9401, ENSG00000160957, RECQ4, RTS
43 results:
1. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Averdunk L; Huetzen MA; Moreno-Andrés D; Kalb R; McKee S; Hsieh TC; Seibt A; Schouwink M; Lalani S; Faqeih EA; Brunet T; Boor P; Neveling K; Hoischen A; Hildebrandt B; Graf E; Lu L; Jin W; Schaper J; Omer JA; Demaret T; Fleischer N; Schindler D; Krawitz P; Mayatepek E; Wieczorek D; Wang LL; Antonin W; Jachimowicz RD; von Felbert V; Distelmaier F
Genet Med; 2023 Jul; 25(7):100836. PubMed ID: 37013901
[TBL] [Abstract] [Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.
Aoude LG; Bonazzi VF; Brosda S; Patel K; Koufariotis LT; Oey H; Nones K; Wood S; Pearson JV; Lonie JM; Arneil M; Atkinson V; Smithers BM; Waddell N; Barbour AP
Sci Rep; 2020 Oct; 10(1):17687. PubMed ID: 33077847
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6. iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome rts.
Gatinois V; Desprat R; Pichard L; Becker F; Goldenberg A; Balguerie X; Pellestor F; Lemaitre JM
Stem Cell Res; 2020 May; 45():101807. PubMed ID: 32416578
[TBL] [Abstract] [Full Text] [Related]
7. ATP-dependent helicase activity is dispensable for the physiological functions of recql4.
Castillo-Tandazo W; Smeets MF; Murphy V; Liu R; Hodson C; Heierhorst J; Deans AJ; Walkley CR
PLoS Genet; 2019 Jul; 15(7):e1008266. PubMed ID: 31276497
[TBL] [Abstract] [Full Text] [Related]
8. Rapid visualization of nonmelanoma skin cancer.
Walker E; Mann M; Honda K; Vidimos A; Schluchter MD; Straight B; Bogyo M; Popkin D; Basilion JP
J Am Acad Dermatol; 2017 Feb; 76(2):209-216.e9. PubMed ID: 27876303
[TBL] [Abstract] [Full Text] [Related]
9. Aging in Rothmund-Thomson syndrome and related recql4 genetic disorders.
Lu L; Jin W; Wang LL
Ageing Res Rev; 2017 Jan; 33():30-35. PubMed ID: 27287744
[TBL] [Abstract] [Full Text] [Related]
10. Correlation between DNA damage responses of skin to a test dose of radiation and late adverse effects of earlier breast radiotherapy.
Somaiah N; Chua ML; Bourne S; Daley F; A' Hern R; Nuta O; Gothard L; Boyle S; Herskind C; Pearson A; Warrington J; Helyer S; Owen R; Rothkamm K; Yarnold J
Radiother Oncol; 2016 May; 119(2):244-9. PubMed ID: 27106550
[TBL] [Abstract] [Full Text] [Related]
11. Novel physiological recql4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
Colombo EA; Fontana L; Roversi G; Negri G; Castiglia D; Paradisi M; Zambruno G; Larizza L
Eur J Hum Genet; 2014 Nov; 22(11):1298-304. PubMed ID: 24518840
[TBL] [Abstract] [Full Text] [Related]
12. Ability of radiation therapists to assess radiation-induced skin toxicity.
Acharya U; Cox J; Rinks M; Gaur P; Back M
J Med Imaging Radiat Oncol; 2013 Jun; 57(3):373-7. PubMed ID: 23721149
[TBL] [Abstract] [Full Text] [Related]
13. On the interplay of telomeres, nevi and the risk of melanoma.
Bodelon C; Pfeiffer RM; Bollati V; Debbache J; Calista D; Ghiorzo P; Fargnoli MC; Bianchi-Scarra G; Peris K; Hoxha M; Hutchinson A; Burdette L; Burke L; Fang S; Tucker MA; Goldstein AM; Lee JE; Wei Q; Savage SA; Yang XR; Amos C; Landi MT
PLoS One; 2012; 7(12):e52466. PubMed ID: 23300679
[TBL] [Abstract] [Full Text] [Related]
14. Therapeutic effect of intratumoral administration of DCs with conditional expression of combination of different cytokines.
Huang C; Ramakrishnan R; Trkulja M; Ren X; Gabrilovich DI
Cancer Immunol Immunother; 2012 Apr; 61(4):573-9. PubMed ID: 22223258
[TBL] [Abstract] [Full Text] [Related]
15. 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]
16. 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; 19(22):4453-61. PubMed ID: 20817924
[TBL] [Abstract] [Full Text] [Related]
17. 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. PubMed ID: 20503338
[TBL] [Abstract] [Full Text] [Related]
18. The etiology of osteosarcoma.
Ottaviani G; Jaffe N
Cancer Treat Res; 2009; 152():15-32. PubMed ID: 20213384
[TBL] [Abstract] [Full Text] [Related]
19. Rothmund-Thomson syndrome.
Larizza L; Roversi G; Volpi L
Orphanet J Rare Dis; 2010 Jan; 5():2. PubMed ID: 20113479
[TBL] [Abstract] [Full Text] [Related]
20. Factors associated with optimal cosmetic results at 36 months in patients treated with accelerated partial breast irradiation (APBI) on the American Society of Breast Surgeons (ASBrS) MammoSite Breast Brachytherapy Registry Trial.
Goyal S; Khan AJ; Vicini F; Beitsch PD; Lyden M; Keisch M; Haffty BG
Ann Surg Oncol; 2009 Sep; 16(9):2450-8. PubMed ID: 19517191
[TBL] [Abstract] [Full Text] [Related]
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