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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways
Genomics, Volume 97, No. 1, Year 2011
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Description
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by derangements in nervous system especially in cognition and behavior. The present study aims to understand the molecular underpinnings of two subtypes of RTT, classic RTT and Rett-like, and to elucidate common pathways giving rise to common RTT phenotype using genomic and transcriptomic approaches. Mutation screening on selected nuclear genes revealed only MECP2 mutations in a subset of classic RTT patients. MLPA assays and mtDNA screenings were all negative. Genome-wide copy number analysis indicated a novel duplication on X chromosome. Transcriptional profiling revealed blood gene signatures that clearly distinguish classic RTT and RTT-like patients, as well as shared altered pathways in interleukin-4 and NF-ΚB signaling pathways in both subtypes of the syndrome. To our knowledge, this is the first report on investigating common regulatory mechanisms/signaling pathways that may be relevant to the pathobiology of the "common RTT" phenotype. © 2010 Elsevier Inc.
Authors & Co-Authors
Çolak, Dilek
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Dhalaan, Hesham
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Nester, Michael J.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Bakheet, Al Bandary
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Younes, Banan
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Hassnan, Zuhair Nasser
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Dosari, Mohammed Salem
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Chedrawi, Aziza
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Owain, Mohammed Abdulaziz
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
AbuDheim, Nada
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Alwan, Laila
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Odaib, Ali Nasser
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Özand, Pinard T.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Turkey, Istanbul
Yıldız Teknik Üniversitesi
Inan, Mehmet S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Kaya, Namik
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Statistics
Citations: 24
Authors: 15
Affiliations: 2
Identifiers
Doi:
10.1016/j.ygeno.2010.09.004
ISSN:
08887543
e-ISSN:
10898646
Research Areas
Cancer
Genetics And Genomics