Page 127 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
truJillo JP and J surralles (2015) Savior siblings and Fanconi anemia: analysis of success rates from the fam- ily’s perspective. Genetics in Medicine. Nov;17(11):935-8.
seguí n, mina lB, láZaro c, sanZ-PamPlona r, Pons t, naVarro m, Bellido F, lóPeZ-doriga a, Valdés-mas r, Pineda m, guinó e, Vidal a, soto Jl, caldés t, durán m, urioste m, rueda d, Brunet J, BalBín m, BlaY P, iglesias s, garré P, lastra e, sáncheZ-heras aB, Valenciaa, moreno V, PuJana má, VillanueVa a, Blanco i, caPellá g, surrallés J, Puente xs, Valle l.(2015) Germline Mu- tations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair, Gastroenterology. Sep;149(3):563-6.
castillo P, m Bogliolo and J surralles.(2015) Activa- tion of the Fanconi anemia/BRCA pathway at low doses
Highlights
During 2015 we published the involvement of the Fanconi / BRCA pathway in breast cancer and he- reditary colon cancer. Specifically, we have investi- gated the involvement of mutations in FANCM and FAN1 from population studies and have made the appropriate functional studies of pathogenicity by lentivirus-mediated complementation. In parallel, we have published the follow-up of 38 cycles of pre- implantational genetic diagnosis to select embryos to generate HLA compatible sibling donor to cure a
of ionization radiation.Mutation Research - Genetic Toxi- cology and Environmental Mutagenesis.Nov;793:9-13.
Peterlongo P, irene catucci, mara colomBo, laura caleca, eliseos mucaKi, massimo Bogliolo et al. (2015) FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. Hum Mol Genet. Sep 15;24(18):5345-55.
Bogliolo m and surralles J (2015) Fanconi anemia: A model disease for studies on human genetics and ad- vanced therapeutics. Current Opinion in Genetics & Devel- opment. Aug 6;33:32-40.
patient with Fanconi anemia. We have also demon- strated that the FA pathway is activated at very low doses of ionizing radiation which could be related to the reported radiosensitivity of Fanconi patients. We have also investigated the role of telomere shorten- ing in Cushing syndrome. Finally we have published an invited review article in Curr Opinion Genet and Dev on Fanconi anemia, focused on advanced ge- netic and therapeutic research in the last five years.
Institution: Universidad Autónoma de Barcelona · Contact: Facultad de Biociencias. Edificio C. 08193 Bellaterra-Cerdanyola del Vallés · Tel.: 93 581 18 30 / 93 586 80 51 (Lab Manager: Ana Molina) E.mail: [email protected] · Website: http://gig.uab.cat
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