{"id":4016,"date":"2018-10-01T19:41:10","date_gmt":"2018-10-01T19:41:10","guid":{"rendered":"https:\/\/sindromecharge.es\/?p=4016"},"modified":"2018-10-01T19:41:10","modified_gmt":"2018-10-01T19:41:10","slug":"nuevo-avance-en-la-investigacion-de-charge","status":"publish","type":"post","link":"https:\/\/sindromecharge.es\/index.php\/2018\/10\/01\/nuevo-avance-en-la-investigacion-de-charge\/","title":{"rendered":"Nuevo avance en la investigaci\u00f3n de CHARGE"},"content":{"rendered":"<p>Cient\u00edficos canadienses en el laboratorio del Dr. Nicol\u00e1s Pil\u00f3n han encontrado un nuevo gen, Fam172a, que podr\u00eda estar involucrado en el s\u00edndrome CHARGE.<\/p>\n<p>Los investigadores descubrieron que los ratones Fam172a exhiben muchas caracter\u00edsticas similares a las observadas en CHARGE, incluyendo coloboma retiniano, paladar hendido y malformaciones del o\u00eddo externo. El an\u00e1lisis comparativo de c\u00e9lulas de un individuo con CHARGE con FAM172A y c\u00e9lulas de ratones mutantes Fam172a muestra cambios similares en el empalme de genes, un proceso que es necesario en la conversi\u00f3n de los genes en prote\u00ednas. Esta investigaci\u00f3n puede ayudar a explicar la variabilidad de las caracter\u00edsticas cl\u00ednicas observadas en individuos con CHARGE.<\/p>\n<p>La investigaci\u00f3n del Dr. Pilon fue respaldada en parte por una subvenci\u00f3n de la CHARGE Syndrome Foundation y se realiz\u00f3 en conjunto con Donna Martin y otros investigadores de la Universidad de Michigan. Las c\u00e9lulas humanas utilizadas en la investigaci\u00f3n proced\u00edan de muestras recogidas de los miembros de la CHARGE Syndrome Foundation.<\/p>\n<p>Esta informaci\u00f3n nos ha llegado a trav\u00e9s de la lista de correo de la <a href=\"http:\/\/www.chargesyndrome.org\">CHARGE Syndrome Foundation<\/a>\u00a0a la cual estamos muy agradecidos.<\/p>\n<p>Puede ampliarse informaci\u00f3n <a href=\"https:\/\/www.chargesyndrome.org\/wp-content\/uploads\/2018\/09\/Dysregulation-of-cotranscriptional-alternative-splicing-underlies-CHARGE-syndrome_Pilon-and-Authors.pdf\">en este documento en ingl\u00e9s<\/a><\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Cient\u00edficos canadienses en el laboratorio del Dr. Nicol\u00e1s Pil\u00f3n han encontrado un nuevo gen, Fam172a, que podr\u00eda estar involucrado en el s\u00edndrome CHARGE. Los investigadores descubrieron que los ratones Fam172a exhiben muchas caracter\u00edsticas similares a las observadas en CHARGE, incluyendo coloboma retiniano, paladar hendido y malformaciones del o\u00eddo externo. El an\u00e1lisis comparativo de c\u00e9lulas de [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[109,103,135,8],"tags":[12,96],"class_list":["post-4016","post","type-post","status-publish","format-standard","hentry","category-asociacion","category-charge","category-investigacion","category-noticias","tag-charge","tag-investigacion"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Nuevo avance en la investigaci\u00f3n de CHARGE - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/sindromecharge.es\/index.php\/2018\/10\/01\/nuevo-avance-en-la-investigacion-de-charge\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Nuevo avance en la investigaci\u00f3n de CHARGE - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge\" \/>\n<meta property=\"og:description\" content=\"Cient\u00edficos canadienses en el laboratorio del Dr. Nicol\u00e1s Pil\u00f3n han encontrado un nuevo gen, Fam172a, que podr\u00eda estar involucrado en el s\u00edndrome CHARGE. Los investigadores descubrieron que los ratones Fam172a exhiben muchas caracter\u00edsticas similares a las observadas en CHARGE, incluyendo coloboma retiniano, paladar hendido y malformaciones del o\u00eddo externo. El an\u00e1lisis comparativo de c\u00e9lulas de [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sindromecharge.es\/index.php\/2018\/10\/01\/nuevo-avance-en-la-investigacion-de-charge\/\" \/>\n<meta property=\"og:site_name\" content=\"Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/asociacionsindromecharge\" \/>\n<meta property=\"article:published_time\" content=\"2018-10-01T19:41:10+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sindromecharge.es\/wp-content\/uploads\/2013\/09\/logodecharge300x98.png\" \/>\n\t<meta property=\"og:image:width\" content=\"300\" \/>\n\t<meta property=\"og:image:height\" content=\"98\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"Charge\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@sindromecharge\" \/>\n<meta name=\"twitter:site\" content=\"@sindromecharge\" \/>\n<meta name=\"twitter:label1\" content=\"Escrito por\" \/>\n\t<meta name=\"twitter:data1\" content=\"Charge\" \/>\n\t<meta name=\"twitter:label2\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minuto\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/2018\\\/10\\\/01\\\/nuevo-avance-en-la-investigacion-de-charge\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/2018\\\/10\\\/01\\\/nuevo-avance-en-la-investigacion-de-charge\\\/\"},\"author\":{\"name\":\"Charge\",\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/#\\\/schema\\\/person\\\/39a60ebe0a2b4d5a11179701e336b039\"},\"headline\":\"Nuevo avance en la investigaci\u00f3n de CHARGE\",\"datePublished\":\"2018-10-01T19:41:10+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/2018\\\/10\\\/01\\\/nuevo-avance-en-la-investigacion-de-charge\\\/\"},\"wordCount\":225,\"keywords\":[\"charge\",\"investigacion\"],\"articleSection\":[\"asociacion\",\"charge\",\"investigacion\",\"noticias\"],\"inLanguage\":\"es\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/2018\\\/10\\\/01\\\/nuevo-avance-en-la-investigacion-de-charge\\\/\",\"url\":\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/2018\\\/10\\\/01\\\/nuevo-avance-en-la-investigacion-de-charge\\\/\",\"name\":\"Nuevo avance en la investigaci\u00f3n de CHARGE - 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