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Page 1
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
Warshauer EM, Brown A, Fuentes I, Shortt J, Gignoux C, Montinaro F, Metspalu M, Youssefian L, Vahidnezhad H, Jacków J, Christiano AM, Uitto J, Fajardo-Ramírez ÓR, Salas-Alanis JC, McGrath JA, Consuegra L, Rivera C, Maier PA, Runfeldt G, Behar DM, Skorecki K, Sprecher E, Palisson F, Norris DA, Bruckner AL, Kogut I, Bilousova G, Roop DR. Warshauer EM, et al. Among authors: fuentes i. Am J Med Genet A. 2021 Nov;185(11):3390-3400. doi: 10.1002/ajmg.a.62456. Epub 2021 Aug 26. Am J Med Genet A. 2021. PMID: 34435747 Free PMC article.
Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy.
von Bischhoffshausen S, Ivulic D, Alvarez P, Schuffeneger VC, Idiaquez J, Fuentes C, Morande P, Fuentes I, Palisson F, Bennett DLH, Calvo M. von Bischhoffshausen S, et al. Among authors: fuentes c, fuentes i. Brain. 2017 May 1;140(5):1238-1251. doi: 10.1093/brain/awx069. Brain. 2017. PMID: 28369282 Free PMC article.
Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy.
Schwieger-Briel A, Fuentes I, Castiglia D, Barbato A, Greutmann M, Leppert J, Duchatelet S, Hovnanian A, Burattini S, Yubero MJ, Ibañez-Arenas R, Rebolledo-Jaramillo B, Gräni C, Ott H, Theiler M, Weibel L, Paller AS, Zambruno G, Fischer J, Palisson F, Has C. Schwieger-Briel A, et al. Among authors: fuentes i. J Invest Dermatol. 2019 Jan;139(1):244-249. doi: 10.1016/j.jid.2018.07.022. Epub 2018 Aug 16. J Invest Dermatol. 2019. PMID: 30120936 Free article. No abstract available.
APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.
Cho RJ, Alexandrov LB, den Breems NY, Atanasova VS, Farshchian M, Purdom E, Nguyen TN, Coarfa C, Rajapakshe K, Prisco M, Sahu J, Tassone P, Greenawalt EJ, Collisson EA, Wu W, Yao H, Su X, Guttmann-Gruber C, Hofbauer JP, Hashmi R, Fuentes I, Benz SC, Golovato J, Ehli EA, Davis CM, Davies GE, Covington KR, Murrell DF, Salas-Alanis JC, Palisson F, Bruckner AL, Robinson W, Has C, Bruckner-Tuderman L, Titeux M, Jonkman MF, Rashidghamat E, Lwin SM, Mellerio JE, McGrath JA, Bauer JW, Hovnanian A, Tsai KY, South AP. Cho RJ, et al. Among authors: fuentes i. Sci Transl Med. 2018 Aug 22;10(455):eaas9668. doi: 10.1126/scitranslmed.aas9668. Sci Transl Med. 2018. PMID: 30135250
Thrombospondin-1 Is a Major Activator of TGF-β Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts.
Atanasova VS, Russell RJ, Webster TG, Cao Q, Agarwal P, Lim YZ, Krishnan S, Fuentes I, Guttmann-Gruber C, McGrath JA, Salas-Alanis JC, Fertala A, South AP. Atanasova VS, et al. Among authors: fuentes i. J Invest Dermatol. 2019 Jul;139(7):1497-1505.e5. doi: 10.1016/j.jid.2019.01.011. Epub 2019 Jan 23. J Invest Dermatol. 2019. PMID: 30684555 Free article.
Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma.
Atanasova VS, Pourreyron C, Farshchian M, Lawler M, Brown CA 4th, Watt SA, Wright S, Warkala M, Guttmann-Gruber C, Hofbauer JP, Fuentes I, Prisco M, Rashidghamat E, Has C, Salas-Alanis JC, Palisson F, Hovnanian A, McGrath JA, Mellerio JE, Bauer JW, South AP. Atanasova VS, et al. Among authors: fuentes i. Clin Cancer Res. 2019 Jun 1;25(11):3384-3391. doi: 10.1158/1078-0432.CCR-18-2661. Epub 2019 Mar 7. Clin Cancer Res. 2019. PMID: 30846478 Free PMC article.
248 results