Page 69 - CIBERESP-2015-eng

Most relevant scientific articles
Research groups
YIN X., LOW H.Q., WANG L., LI Y., ELLINGHAUS E., HAN J. ET AL. Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis sus- ceptibility. Nature Communications. 2015;6.
VAN DER VALK RJ, KREINER-MøLLER E, KOOIJMAN MN, GUXENS M, STERGIAKOULI E, SääF A ET AL. A novel com- mon variant in DCST2 is associated with length in early life and height in adulthood.Human molecular genetics. 2015;24(4):1155-68.
HOR H., FRANCESCATTO L., BARTESAGHI L., ORTEGA-CUBERO S., KOUSI M., LORENZO-BETANCOR O. ET AL. Missense muta- tions in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. Human Molecular Genetics. 2015;24(20):5677-5686.
BULLICH G., TRUJILLANO D., SANTIN S., OSSOWSKI S., MENDIZABAL S., FRAGA G. ET AL. Targeted next-genera- tion sequencing in steroid-resistant nephrotic syndrome: Mutations in multiple glomerular genes may influence
DURST R., SAULS K., PEAL D.S., DEVLAMING A., TOOMER K., LEYNE M. ET AL. Mutations in DCHS1 cause mitral valve prolapse. Nature. 2015;525(7567):109-113.
Highlights
The group is part of the Pancancer Analysis of Whole Genomes initiative, participating in the anal- ysis of germline variants in more than 2000 can- cer germline genomes. We will attempt to identify germline variants involved in cancer risk. With a similar aim, we participate in the European project PanCanRisk, where we have developed targeted resequencing panels for breast, colorectal and ovar- ian cancers. Also, we have participated in the deep characterization of 12 cases of sézary syndrome, combining DNA, RNA and small RNA sequencing.
We are performing exome sequencing in a variety of disorders. We have identified novel genes such as TENM4 in Essential tremor, and validated proposed candidates such as LACC1 in Juvenile idiopathic ar- thritis, PLCG2 in systemic autoinflammatory disor- ders or THOC2 in mental retardation, for which we are currently performing functional validation. We are performing rare variant association analysis on exome data for OCD and stroke recovery, and we have identified a list of candidate genes to be vali- dated by targeted resequencing.
disease severity. European Journal of Human Genetics. 2015;23(9):1192-1199.
The group is also studying the contribution of the non-coding RNAs to neurodegeneration. We are analyzing small non-coding RNAs perturbations in brains of patients with several neurodegenerative conditions. We are evaluating brain areas with di- verse degree of affectation and several evolutionary stages. We have observed that small non-coding RNA perturbations occur at pre-motor stages of Parkinson’s disease, suggesting that these altera- tions may contribute to disease evolution. In addi- tion, we are studying the contribution of RNA path- ogenic mechanisms in Huntington’s disease and other trinucleotide repeat expansion diseases. In these diseases we are also evaluating the therapeu- tic potential of anti-sense oligonucleotides targeting the mutant gene.
Institution: Fundació Centre de Regulació Genòmica · Contact: C/ Dr. Aiguader, 88, 5a pl. 08003 Barcelona Tel.: 93 316 01 99 · E.mail: [email protected] · Website: http://www.crg.eu/en/xavier_estivill
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