Page 145 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
Wang J, Vicente-garcía c, seruggia d, moltó e, Fernán- deZ-miñán a, neto a, lee e, gómeZ-sKarmeta Jl, mon- toliu l, lunYaK VV, Jordan iK. MIR retrotransposon se- quences provide insulators to the human genome. Proc Natl Acad Sci U S A. 2015 Aug 11;112(32):E4428-37.
scaViZZi F, rYder e, neWman s, rasPa m, gleeson d, Wardle-Jones h, montoliu l, FernándeZ a, dessain ml, larrigaldie V, Khorshidi Z, Vuolteenaho r, soininen r, andré P, Jacquot s, hong Y, de angelis mh, ramireZ-so-
seruggia d, FernándeZ a, cantero m, PelcZar P, montoliu l. Functional validation of mouse tyrosi- nase non-coding regulatory DNA elements by CRIS- PR-Cas9-mediated mutagenesis. Nucleic Acids Res. 2015 May 26;43(10):4855-67.
INFRAFRONTIER Consortium. INFRAFRONTIER--provid- ing mutant mouse resources as research tools for the in- ternational scientific community. Nucleic Acids Res. 2015 Jan;43(Database issue):D1171-5.
lis r, doe B. Blastocyst genotyping for quality control of mouse mutant archives: an ethical and economical ap- proach. Transgenic Res. 2015 Oct;24(5):921-7.
Highlights
Experimental demonstration that endogenous non-coding DNA sequences of mouse tyrosinase locus, whose mutations are associated with ocu- locutaneous albinism type I (OCA1), also correlate with the appearance of phenotypes compatible with OCA1B.
Coordination, funding granted and start of activities of project ACCI “New animal models of neursensori- al rare diseases generated with CRISPR-Cas9 tech- nology”, with all groups from Neurosensorial Pathol- ogy Area.
Funding granted and start of activities of project ACCI “Genetic diagnose and possible treatment of albinism” in collaboration with U711 Angel Carrace- do de USC.
Funding granted, participation and start of activities of EU-H2020 project “IPAD-MD: Research Infrastruc- tures for Phenotyping, Archiving and Distribution of Mouse Disease Models – Promoting International Cooperation and User Engagement to Enhance Bi- omedical Innovation” H2020-INFRASUPP-2014-2, Ref. 653961 (2015-2018).
Organization and participation in the meeting 1st In- ternational Workshop on Oculocutaneous Albinism in Subsaharian Africa, Douala, Cameroon, 24-25 July 2015.
Organization and participation in the Frist Clinical Day of Albinism in Spain, Fundación Jiménez Díaz, Madrid, Friday 2 October 2015.
Organization and participation in the IX Annual Meeting of ALBA, La Cristalera, Miraflores de la Sier- ra, Madrid, 3-4 October 2015.
Updating web devoted to albinism:
http://wwwuser.cnb.csic.es/~albino/
Genetic diagnose and preparation and distribution of genetic reports to patients and relatives with al- binism, in collaboration with U711 Angel Carracedo de USC.
Preclinical evaluatio, in different mouse mutant models of OCA1B, of the use of nitisinone as poten- tial treatment of certain types of OCA1B.
Institution: Agencia Estatal Consejo Superior de Investigaciones Científicas
Contact: Centro Nacional De Biotecnología. c/ Darwin, 3. Universidad Autónoma de Madrid. Cantoblanco. Dpto de Biología Molecular y Celular. 28049 Madrid · Tel.: 91 585 48 44 · E.mail: [email protected] Website: http://www.cnb.csic.es/~montoliu/
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