{"id":3964,"date":"2017-09-23T16:50:04","date_gmt":"2017-09-23T16:50:04","guid":{"rendered":"http:\/\/blogs.sld.cu\/oserranob\/?p=3964"},"modified":"2017-09-23T16:50:04","modified_gmt":"2017-09-23T16:50:04","slug":"nuevas-variantes-mutaciones-y-asociaciones-3","status":"publish","type":"post","link":"https:\/\/blogs.sld.cu\/oserranob\/2017\/09\/23\/nuevas-variantes-mutaciones-y-asociaciones-3\/","title":{"rendered":"Nuevas variantes, mutaciones y asociaciones"},"content":{"rendered":"<p style=\"text-align: justify\">&#8211; <a title=\"Nature Genetics 2017; doi:10.1038\/ng.3949 \" href=\"http:\/\/www.nature.com\/ng\/journal\/vaop\/ncurrent\/full\/ng.3949.html\" target=\"_blank\">Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis<\/a><br \/>\n&#8211; <a title=\"J Exp Med 2017; DOI: 10.1084\/jem.20160875 \" href=\"http:\/\/jem.rupress.org\/content\/early\/2017\/07\/18\/jem.20160875?papetoc\" target=\"_blank\">Human venous valve disease caused by mutations in FOXC2 and GJC2<\/a><br \/>\n&#8211; <a title=\"J Exp Med 2017; DOI: 10.1084\/jem.20161810 \" href=\"http:\/\/jem.rupress.org\/content\/early\/2017\/07\/26\/jem.20161810?papetoc\" target=\"_blank\">A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis<\/a><br \/>\n&#8211; <a title=\"Journal of Human Genetics 2017;62;831\u2013838. \" href=\"http:\/\/www.nature.com\/jhg\/journal\/v62\/n9\/full\/jhg201746a.html\" target=\"_blank\">The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome<\/a><br \/>\n&#8211; <a title=\"N Eng J Med 2017; DOI: 10.1056\/NEJMoa1612665 \" href=\"http:\/\/www.nejm.org\/doi\/full\/10.1056\/NEJMoa1612665#t=article\" target=\"_blank\">Genetic Associations with Gestational Duration and Spontaneous Preterm Birth<\/a><br \/>\n&#8211; <a title=\"Journal of Parkinson's Disease 2017;7(3):459-463. \" href=\"http:\/\/content.iospress.com\/articles\/journal-of-parkinsons-disease\/jpd171146\" target=\"_blank\">A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson\u2019s Disease<\/a><br \/>\n&#8211; <a title=\"Genes and Immunity 2017; doi: 10.1038\/gene.2017.14.\" href=\"https:\/\/www.nature.com\/gene\/journal\/vaop\/ncurrent\/full\/gene201714a.html\" target=\"_blank\">Autosomal recessive agammaglobulinemia due to defect in \u00b5 heavy chain caused by a novel mutation in the IGHM gene<\/a><br \/>\n&#8211; <a title=\"PLoS Biol 2017;15(9):e2002458 \" href=\"http:\/\/journals.plos.org\/plosbiology\/article?id=10.1371\/journal.pbio.2002458\" target=\"_blank\">Identifying genetic variants that affect viability in large cohorts<\/a><br \/>\n&#8211; <a title=\"Nature Genetics 2017; doi:10.1038\/ng.3947. \" href=\"http:\/\/www.nature.com\/ng\/journal\/vaop\/ncurrent\/full\/ng.3947.html?foxtrotcallback=true\" target=\"_blank\">A functional genomics predictive network model identifies regulators of inflammatory bowel disease<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>&#8211; Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis &#8211; Human venous valve disease caused by mutations in FOXC2 and GJC2 &#8211; A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis &#8211; The first genome-wide association study identifying new susceptibility loci [&hellip;]<\/p>\n","protected":false},"author":125,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[14,15,23,25,26,29],"tags":[],"_links":{"self":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/3964"}],"collection":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/users\/125"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/comments?post=3964"}],"version-history":[{"count":1,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/3964\/revisions"}],"predecessor-version":[{"id":3965,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/3964\/revisions\/3965"}],"wp:attachment":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/media?parent=3964"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/categories?post=3964"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/tags?post=3964"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}