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InternationalResearch Symposium onAnkyloblepharon‐Ectodermal Defects‐CleftLip/Palate (AEC)Syndrome Mary FeteHans vanBokhovenSuzanne Clements2009 год

International Research Symposium on Ankyloblepharon‐Ectodermal Defects‐Cleft Lip/Palate (AEC) Syndrome
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Аннотация: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the TP63 gene, known to be a regulatory gene with many downstream gene targets. TP63 is important in the differentiation and proliferation of the epidermis, as well as many other processes including limb and facial development. It is also known that mutations in TP63 lead to skin erosions. These erosions, especially on the scalp, are defining features of AEC syndrome and cause significant morbidity and mortality in these patients. It was this fact that led to the 2003 AEC Skin Erosion Workshop. That conference laid the groundwork for the International Research Symposium for AEC Syndrome held at Texas Children's Hospital in 2006. The conference brought together the largest cohort of individuals with AEC syndrome, along with a multitude of physicians and scientists. The overarching goals were to define the clinical and pathologic findings for improved diagnostic criteria, to obtain tissue samples for further study and to define future research directions. The symposium was successful in accomplishing these aims as detailed in this conference report. Following our report, we also present 11 manuscripts within this special section that outline the collective clinical, pathologic, and mutational data from 18 individuals enrolled in the concurrent Baylor College of Medicine IRB-approved protocol: Characterization of AEC syndrome. These collaborative findings will hopefully provide a stepping-stone to future translational projects of TP63 and TP63-related syndromes.
Год издания: 2009
Авторы: Mary Fete, Hans vanBokhoven, Suzanne Clements, Frank McKeon, Dennis R. Roop, Maranke I. Koster, Caterina Missero, Laura D. Attardi, Vivian A. Lombillo, Edward A. Ratovitski, Meena R. Julapalli, Derek Ruths, Virginia P. Sybert, Elaine C. Siegfried, Alanna F. Bree
Издательство: Wiley
Источник: American Journal of Medical Genetics Part A
Ключевые слова: Cancer-related Molecular Pathways, RNA modifications and cancer, Epigenetics and DNA Methylation
Другие ссылки: American Journal of Medical Genetics Part A (PDF)
American Journal of Medical Genetics Part A (HTML)
Europe PMC (PubMed Central) (PDF)
Europe PMC (PubMed Central) (HTML)
PubMed Central (HTML)
PubMed (HTML)