Results 121 to 130 of about 7,414 (159)

Prognostic significance of mutation type and chromosome fragility in Fanconi anemia. [PDF]

Am J Hematol
Ramírez MJ, Pujol R, Minguillón J, Bogliolo M, Persico I, Cavero D, de la Cal A, Río P, Navarro S, Casado JA, Bailador A, de la Fuente AS, de Heredia ML, Almazán F, Antelo ML, Argilés B, Badell I, Baragaño M, Beléndez C, Bermúdez M, Bernués M, Buedo MI, Carrasco E, Català A, Costa D, Cuesta I, Fernandez-Delgado R, Fernández-Teijeiro A, Figuera Á, García M, Gondra A, González M, Muñiz SG, Hernández-Rodríguez I, Ibañez F, Kelleher NJ, Lendínez F, López M, López-Almaraz R, Marchante I, Mendoza C, Nieto J, Ojeda E, Payán-Pernía S, Peláez I, de Soto IP, Portugal R, Ramos-Arroyo MA, Regueiro A, Rodríguez A, Rosell J, Saez R, Sánchez J, Sánchez M, Senent M, Tapia M, Trujillo-Quintero JP, Vagace JM, Verdú-Amorós J, Verdugo V, Vidales I, Villarreal J, Díaz-de-Heredia C, Sevilla J, Bueren JA, Surrallés J.   +65 more
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants. [PDF]

Am J Hum Genet
Richardson ME, Bishop MFH, Holdren MA, de la Hoya M, Spurdle AB, Tavtigian SV, Brannan T, Young CC, Zec L, Hiraki S, Turnbull C, Tischkowitz M, Bernstein KA, Masson JY, McNulty SM, Pesaran T, Monteiro AN, Walker LC, Foulkes WD, Couch FJ.   +19 more
europepmc   +1 more source

Rare genetic diseases associated with G-quadruplex-induced replication stress. [PDF]

Commun Biol
Herr LM, Mukhopadhyay S, Anderson OM, Couch TH, Jones CM, Brosh RM, Rossi M.   +6 more
europepmc   +1 more source

Red Blood Cell Antioxidant State in Fanconi Anemia: The Highlighted Roles of Pi-Class Glutathione S-Transferase and Glutathione Peroxidase. [PDF]

Antioxidants (Basel)
Oliveira C, Dinis-Oliveira RJ, Carvalho F, Jorge P, Porto B.   +4 more
europepmc   +1 more source

Human cytomegalovirus regulates host DNA repair machinery for viral genome integrity. [PDF]

Nucleic Acids Res
Longmire P, Zeltzer S, Zarrella K, Daigle O, Svoboda M, Reitsma JM, Terhune SS, Bobak C, Bosco G, Goodrum F.   +9 more
europepmc   +1 more source

Unveiling a pathogenic FANCA gene variant in a Mexican family with Fanconi anemia through next‑generation sequencing. [PDF]

Exp Ther Med
Cuero-Quezada I, Brukman-Jiménez SA, Corona-Rivera A, Corona-Rivera JR, Ortiz-Sandoval MM, Juárez-Zucco L, Flores-Leura FA, De Jesús Bustos-Rodríguez F, Bobadilla-Morales L.   +8 more
europepmc   +1 more source

Arabidopsis thaliana FANCONI ANAEMIA I (FANCI) has roles in the repair of interstrand crosslinks and CRISPR-Cas9 induced DNA double strand breaks. [PDF]

Plant J
Balobaid A, Waterworth WM, Vila Nova SF, Causier B, Sharma V, Park MR, Pandey MK, West CE.   +7 more
europepmc   +1 more source

Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Ngeow J, Chiang J, Astiazaran-Symonds E, Balmaña J, Cass I, Kommoss FKF, Foulkes WD, James PA, Katcher A, Klugman S, Livinski AA, Mak JS, Voian N, Wick MJ, Tischkowitz M, Pal T, Stewart DR, Hanson H, ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net.   +18 more
europepmc   +1 more source

The combination of poly(ADP-ribose) polymerase inhibitor and statin inhibits the proliferation of human castration-resistant and taxane-resistant prostate cancer cells in vitro and in vivo. [PDF]

BMC Cancer
Sekine Y, Oka D, Ohtsu A, Nakayama H, Miyao T, Miyazawa Y, Arai S, Koike H, Matsui H, Shibata Y, Suzuki K.   +10 more
europepmc   +1 more source

Expression of Concern: The RSF1 Histone-Remodelling Factor Facilitates DNA Double-Strand Break Repair by Recruiting Centromeric and Fanconi Anaemia Proteins. [PDF]

PLoS Biol
PLOS Biology Editors.
europepmc   +1 more source