{"id":213,"date":"2017-07-17T10:57:22","date_gmt":"2017-07-17T10:57:22","guid":{"rendered":"https:\/\/www-menarah-org.kentuniresestg.wpengine.com\/?p=213"},"modified":"2024-01-08T09:56:48","modified_gmt":"2024-01-08T09:56:48","slug":"c9orf72-expansion-disrupts-atm-mediated-chromosomal-break-repair","status":"publish","type":"post","link":"https:\/\/menarah.org\/ar\/c9orf72-expansion-disrupts-atm-mediated-chromosomal-break-repair\/","title":{"rendered":"\u064a\u0624\u062f\u064a \u062a\u0648\u0633\u064a\u0639 C9orf72 \u0625\u0644\u0649 \u062a\u0639\u0637\u064a\u0644 \u0625\u0635\u0644\u0627\u062d \u0643\u0633\u0631 \u0627\u0644\u0643\u0631\u0648\u0645\u0648\u0633\u0648\u0645\u0627\u062a \u0628\u0648\u0633\u0627\u0637\u0629 \u0623\u062c\u0647\u0632\u0629 \u0627\u0644\u0635\u0631\u0627\u0641 \u0627\u0644\u0622\u0644\u064a"},"content":{"rendered":"<p>\u062a\u0645\u062b\u0644 \u062a\u0648\u0633\u0639\u0627\u062a \u0627\u0644\u0647\u0643\u0633\u0627\u0646\u0648\u0643\u0644\u064a\u0648\u062a\u064a\u062f \u0627\u0644\u0645\u062a\u0643\u0631\u0631\u0629 \u0627\u0644\u0633\u0628\u0628 \u0627\u0644\u0648\u0631\u0627\u062b\u064a \u0627\u0644\u0623\u0643\u062b\u0631 \u0634\u064a\u0648\u0639\u064b\u0627 \u0644\u0644\u062a\u0635\u0644\u0628 \u0627\u0644\u062c\u0627\u0646\u0628\u064a \u0627\u0644\u0636\u0645\u0648\u0631\u064a (ALS) \u0648\u0627\u0644\u062e\u0631\u0641 \u0627\u0644\u062c\u0628\u0647\u064a \u0627\u0644\u0635\u062f\u063a\u064a\u060c \u0639\u0644\u0649 \u0627\u0644\u0631\u063a\u0645 \u0645\u0646 \u0623\u0646 \u0627\u0644\u0622\u0644\u064a\u0627\u062a \u0627\u0644\u062a\u064a \u062a\u0633\u0628\u0628 \u0628\u0647\u0627 \u0647\u0630\u0647 \u0627\u0644\u062a\u0648\u0633\u0639\u0627\u062a \u062a\u0646\u0643\u0633\u064b\u0627 \u0639\u0635\u0628\u064a\u064b\u0627 \u063a\u064a\u0631 \u0645\u0641\u0647\u0648\u0645\u0629 \u062c\u064a\u062f\u064b\u0627. \u0644\u0642\u062f \u0623\u0628\u0644\u063a\u0646\u0627 \u0639\u0646 \u0645\u0633\u062a\u0648\u064a\u0627\u062a \u0645\u0631\u062a\u0641\u0639\u0629 \u0645\u0646 \u0647\u062c\u064a\u0646\u0629 DNA-RNA (\u062d\u0644\u0642\u0627\u062a R) \u0648\u0627\u0646\u0643\u0633\u0627\u0631\u0627\u062a \u0645\u0632\u062f\u0648\u062c\u0629 \u0641\u064a \u0627\u0644\u062e\u0644\u0627\u064a\u0627 \u0627\u0644\u0639\u0635\u0628\u064a\u0629 \u0627\u0644\u062c\u0631\u0630\u064a\u0629 \u0648\u0627\u0644\u062e\u0644\u0627\u064a\u0627 \u0627\u0644\u0628\u0634\u0631\u064a\u0629 \u0648&nbsp;<em>C9orf72<\/em>&nbsp;\u0623\u0646\u0633\u062c\u0629 \u0627\u0644\u062d\u0628\u0644 \u0627\u0644\u0634\u0648\u0643\u064a \u0644\u0645\u0631\u064a\u0636 \u0627\u0644\u062a\u0635\u0644\u0628 \u0627\u0644\u062c\u0627\u0646\u0628\u064a \u0627\u0644\u0636\u0645\u0648\u0631\u064a (ALS). \u064a\u0635\u0627\u062d\u0628 \u062a\u0631\u0627\u0643\u0645 \u062a\u0644\u0641 \u0627\u0644\u062d\u0645\u0636 \u0627\u0644\u0646\u0648\u0648\u064a \u0627\u0644\u062f\u0627\u062e\u0644\u064a \u0645\u0639 \u0625\u0634\u0627\u0631\u0627\u062a \u0625\u0635\u0644\u0627\u062d \u0627\u0644\u062d\u0645\u0636 \u0627\u0644\u0646\u0648\u0648\u064a \u0627\u0644\u0645\u0639\u064a\u0628\u0629 \u0628\u0648\u0633\u0627\u0637\u0629 \u0623\u062c\u0647\u0632\u0629 \u0627\u0644\u0635\u0631\u0627\u0641 \u0627\u0644\u0622\u0644\u064a \u0648\u062a\u0631\u0627\u0643\u0645 \u0641\u0648\u0627\u0635\u0644 \u0627\u0644\u062d\u0645\u0636 \u0627\u0644\u0646\u0648\u0648\u064a \u0627\u0644\u0645\u0631\u062a\u0628\u0637\u0629 \u0628\u0627\u0644\u0628\u0631\u0648\u062a\u064a\u0646. \u0644\u0642\u062f \u0643\u0634\u0641\u0646\u0627 \u0623\u0646 \u0625\u0635\u0644\u0627\u062d \u0627\u0644\u062d\u0645\u0636 \u0627\u0644\u0646\u0648\u0648\u064a \u0627\u0644\u0645\u0639\u064a\u0628 \u0628\u0648\u0633\u0627\u0637\u0629 \u0623\u062c\u0647\u0632\u0629 \u0627\u0644\u0635\u0631\u0627\u0641 \u0627\u0644\u0622\u0644\u064a \u0647\u0648 \u0646\u062a\u064a\u062c\u0629 \u0644\u062a\u0631\u0627\u0643\u0645 P62\u060c \u0645\u0645\u0627 \u064a\u0636\u0639\u0641 \u0627\u0646\u062a\u0634\u0627\u0631 H2A \u0641\u064a \u0643\u0644 \u0645\u0643\u0627\u0646 \u0648\u064a\u0632\u0639\u062c \u0625\u0634\u0627\u0631\u0627\u062a \u0623\u062c\u0647\u0632\u0629 \u0627\u0644\u0635\u0631\u0627\u0641 \u0627\u0644\u0622\u0644\u064a. \u062a\u0639\u0628\u064a\u0631 \u0628\u0648\u0633\u0627\u0637\u0629 \u0627\u0644\u0641\u064a\u0631\u0648\u0633\u0627\u062a \u0644\u0640 C9<em>\u0623\u0648\u0631\u0641<\/em>\u064a\u0624\u062f\u064a \u062a\u0643\u0631\u0627\u0631 \u0627\u0644\u062d\u0645\u0636 \u0627\u0644\u0646\u0648\u0648\u064a \u0627\u0644\u0631\u064a\u0628\u0648\u0632\u064a 72 \u0648\u062b\u0646\u0627\u0626\u064a \u0627\u0644\u0628\u0628\u062a\u064a\u062f \u0641\u064a \u0627\u0644\u062c\u0647\u0627\u0632 \u0627\u0644\u0639\u0635\u0628\u064a \u0627\u0644\u0645\u0631\u0643\u0632\u064a \u0644\u0644\u0641\u0623\u0631 \u0625\u0644\u0649 \u0632\u064a\u0627\u062f\u0629 \u0641\u0648\u0627\u0635\u0644 \u0627\u0644\u062e\u064a\u0648\u0637 \u0627\u0644\u0645\u0632\u062f\u0648\u062c\u0629 \u0648\u0639\u064a\u0648\u0628 \u0623\u062c\u0647\u0632\u0629 \u0627\u0644\u0635\u0631\u0627\u0641 \u0627\u0644\u0622\u0644\u064a \u0648\u062a\u062d\u0641\u064a\u0632 \u0627\u0644\u062a\u0646\u0643\u0633 \u0627\u0644\u0639\u0635\u0628\u064a. \u062a\u062d\u062f\u062f \u0647\u0630\u0647 \u0627\u0644\u0646\u062a\u0627\u0626\u062c \u062d\u0644\u0642\u0627\u062a R\u060c \u0648\u0627\u0644\u0641\u0648\u0627\u0635\u0644 \u0627\u0644\u0645\u0632\u062f\u0648\u062c\u0629 \u0648\u0627\u0644\u0625\u0635\u0644\u0627\u062d \u0627\u0644\u0645\u0639\u064a\u0628 \u0628\u0648\u0633\u0627\u0637\u0629 \u0623\u062c\u0647\u0632\u0629 \u0627\u0644\u0635\u0631\u0627\u0641 \u0627\u0644\u0622\u0644\u064a \u0643\u0639\u0648\u0627\u0642\u0628 \u0645\u0631\u0636\u064a\u0629&nbsp;<em>C9orf72<\/em>&nbsp;\u0627\u0644\u062a\u0648\u0633\u0639\u0627\u062a \u0648\u0627\u0642\u062a\u0631\u062d \u0630\u0644\u0643&nbsp;<em>C9orf72<\/em>\u0625\u0646 \u0627\u0644\u062a\u0646\u0643\u0633 \u0627\u0644\u0639\u0635\u0628\u064a \u0627\u0644\u0645\u0631\u062a\u0628\u0637 \u064a\u0643\u0648\u0646 \u0645\u062f\u0641\u0648\u0639\u064b\u0627 \u062c\u0632\u0626\u064a\u064b\u0627 \u0639\u0644\u0649 \u0627\u0644\u0623\u0642\u0644 \u0628\u0639\u062f\u0645 \u0627\u0644\u0627\u0633\u062a\u0642\u0631\u0627\u0631 \u0627\u0644\u062c\u064a\u0646\u064a.<\/p>\n\n\n\n<p>Walker C\u060c Herranz-Martin S\u060c \u2026\u2026\u2026A\u060c ShawPJ\u060c Hautbergue GM\u060c \u0639\u0632\u0648\u0632 M\u060c <strong>\u0627\u0644\u062e\u0645\u064a\u0633\u064a<\/strong> \u0633\u0627\u062f\u0633. (2017). <a href=\"https:\/\/www.nature.com\/articles\/nn.4604\">\u064a\u0624\u062f\u064a \u062a\u0648\u0633\u064a\u0639 C9orf72 \u0625\u0644\u0649 \u062a\u0639\u0637\u064a\u0644 \u0625\u0635\u0644\u0627\u062d \u0643\u0633\u0631 \u0627\u0644\u0643\u0631\u0648\u0645\u0648\u0633\u0648\u0645\u0627\u062a \u0628\u0648\u0633\u0627\u0637\u0629 \u0623\u062c\u0647\u0632\u0629 \u0627\u0644\u0635\u0631\u0627\u0641 \u0627\u0644\u0622\u0644\u064a<\/a>. \u0639\u0644\u0645 \u0627\u0644\u0623\u0639\u0635\u0627\u0628 \u0627\u0644\u0637\u0628\u064a\u0639\u064a\u060c 45: 1159<\/p>","protected":false},"excerpt":{"rendered":"<p>Hexanucleotide repeat expansions represent the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, though the mechanisms by which such expansions cause neurodegeneration are poorly understood. We report elevated levels of DNA\u2013RNA hybrids (R-loops) and double strand breaks in rat neurons, human cells and&nbsp;C9orf72&nbsp;ALS patient spinal cord tissues. Accumulation of endogenous DNA [&hellip;]<\/p>\n","protected":false},"author":8,"featured_media":357,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[5,17],"tags":[23,61,95],"class_list":{"0":"post-213","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-international_learning","8":"category-publications","9":"tag-23","10":"tag-health","11":"tag-research"},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>C9orf72 expansion disrupts ATM-mediated chromosomal break repair - Menarah<\/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:\/\/menarah.org\/ar\/c9orf72-expansion-disrupts-atm-mediated-chromosomal-break-repair\/\" \/>\n<meta property=\"og:locale\" content=\"ar_AR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"C9orf72 expansion disrupts ATM-mediated chromosomal break repair - Menarah\" \/>\n<meta property=\"og:description\" content=\"Hexanucleotide repeat expansions represent the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, though the mechanisms by which such expansions cause neurodegeneration are poorly understood. We report elevated levels of DNA\u2013RNA hybrids (R-loops) and double strand breaks in rat neurons, human cells and&nbsp;C9orf72&nbsp;ALS patient spinal cord tissues. Accumulation of endogenous DNA [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/menarah.org\/ar\/c9orf72-expansion-disrupts-atm-mediated-chromosomal-break-repair\/\" \/>\n<meta property=\"og:site_name\" content=\"Menarah\" \/>\n<meta property=\"article:published_time\" content=\"2017-07-17T10:57:22+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2024-01-08T09:56:48+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/menarah.org\/wp-content\/uploads\/2017\/07\/6.png\" \/>\n\t<meta property=\"og:image:width\" content=\"300\" \/>\n\t<meta property=\"og:image:height\" content=\"398\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"Prof. Sherif El-Khamisy\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@https:\/\/twitter.com\/SEK2016T\" \/>\n<meta name=\"twitter:label1\" content=\"\u0643\u064f\u062a\u0628 \u0628\u0648\u0627\u0633\u0637\u0629\" \/>\n\t<meta name=\"twitter:data1\" content=\"Prof. Sherif El-Khamisy\" \/>\n\t<meta name=\"twitter:label2\" content=\"\u0648\u0642\u062a \u0627\u0644\u0642\u0631\u0627\u0621\u0629 \u0627\u0644\u0645\u064f\u0642\u062f\u0651\u0631\" \/>\n\t<meta name=\"twitter:data2\" content=\"\u062f\u0642\u064a\u0642\u0629 \u0648\u0627\u062d\u062f\u0629\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/menarah.org\\\/c9orf72-expansion-disrupts-atm-mediated-chromosomal-break-repair\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/menarah.org\\\/c9orf72-expansion-disrupts-atm-mediated-chromosomal-break-repair\\\/\"},\"author\":{\"name\":\"Prof. Sherif El-Khamisy\",\"@id\":\"https:\\\/\\\/menarah.org\\\/#\\\/schema\\\/person\\\/02a18a743abdb604f46256ea79fef499\"},\"headline\":\"C9orf72 expansion disrupts ATM-mediated chromosomal break repair\",\"datePublished\":\"2017-07-17T10:57:22+00:00\",\"dateModified\":\"2024-01-08T09:56:48+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/menarah.org\\\/c9orf72-expansion-disrupts-atm-mediated-chromosomal-break-repair\\\/\"},\"wordCount\":190,\"commentCount\":0,\"image\":{\"@id\":\"https:\\\/\\\/menarah.org\\\/c9orf72-expansion-disrupts-atm-mediated-chromosomal-break-repair\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/menarah.org\\\/wp-content\\\/uploads\\\/2017\\\/07\\\/6.png\",\"keywords\":[\"2017\",\"Health\",\"Research\"],\"articleSection\":[\"Learning from the International Experience\",\"Publications\"],\"inLanguage\":\"ar\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/menarah.org\\\/c9orf72-expansion-disrupts-atm-mediated-chromosomal-break-repair\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/menarah.org\\\/c9orf72-expansion-disrupts-atm-mediated-chromosomal-break-repair\\\/\",\"url\":\"https:\\\/\\\/menarah.org\\\/c9orf72-expansion-disrupts-atm-mediated-chromosomal-break-repair\\\/\",\"name\":\"C9orf72 expansion disrupts ATM-mediated chromosomal break repair - 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El-Khamisy lab studies how cells maintain genomic integrity and their impact on health. The lab uses interdisciplinary approach fusing genetics, chemistry and biology with clinical expertise. We use mouse and zebrafish models to\u00a0stay ageing and\u00a0multimorbidity at the molecular and organismal level. 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