D
Diana Alcantara
Researcher at University of Sussex
Publications - 15
Citations - 1401
Diana Alcantara is an academic researcher from University of Sussex. The author has contributed to research in topics: Megalencephaly & PI3K/AKT/mTOR pathway. The author has an hindex of 12, co-authored 15 publications receiving 1193 citations.
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Journal ArticleDOI
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Jean Baptiste Rivière,Ghayda M. Mirzaa,Brian J. O'Roak,Margaret Beddaoui,Diana Alcantara,Robert L. Conway,Judith St-Onge,Jeremy Schwartzentruber,Karen W. Gripp,Sarah M. Nikkel,Thea Worthylake,Christopher T. Sullivan,Thomas R. Ward,Hailly Butler,Nancy Kramer,Beate Albrecht,Christine M. Armour,Linlea Armstrong,Oana Caluseriu,Cheryl Cytrynbaum,Beth A. Drolet,A. Micheil Innes,Julie Lauzon,Angela E. Lin,Grazia M.S. Mancini,Wendy S. Meschino,James D. Reggin,Anand Saggar,Tally Lerman-Sagie,Gã Khan Uyanik,Rosanna Weksberg,Birgit Zirn,Chandree L. Beaulieu,Jacek Majewski,Dennis E. Bulman,Mark O'Driscoll,Jay Shendure,John M. Graham,Kym M. Boycott,William B. Dobyns +39 more
TL;DR: Exome sequencing identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway, highlighting the central role of PI3K-AKT signaling in vascular, limb and brain development.
Journal ArticleDOI
Mutations in PIK3R1 Cause SHORT Syndrome
David A. Dyment,Amanda C. Smith,Diana Alcantara,Jeremy Schwartzentruber,Lina Basel-Vanagaite,Cynthia J. Curry,I. Karen Temple,I. Karen Temple,William Reardon,Sahar Mansour,Mushfequr R. Haq,Rodney D. Gilbert,Ordan J. Lehmann,Megan R. Vanstone,Chandree L. Beaulieu,Jacek Majewski,Dennis E. Bulman,Mark O'Driscoll,Kym M. Boycott,A. Micheil Innes,A. Micheil Innes +20 more
TL;DR: The findings show that PIK3R1 mutations are the major cause of SHORT syndrome and suggest that the molecular mechanism of disease might involve downregulation of the PI3K-AKT-mTOR pathway.
Journal ArticleDOI
Congenital microcephaly: AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
Diana Alcantara,Mark O'Driscoll +1 more
TL;DR: The key pathomechanistic themes underlying profound congenital microcephaly are overviewed, and their interconnected nature is emphasized.
Journal ArticleDOI
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome
Laura M McDonell,Ghayda M. Mirzaa,Diana Alcantara,Jeremy Schwartzentruber,Melissa T. Carter,Leo J. Lee,Carol L. Clericuzio,John M. Graham,Deborah J. Morris-Rosendahl,Tilman Polster,Gyula Acsadi,Sharron Townshend,Simon Williams,Anne R Halbert,Bertrand Isidor,Albert David,Christopher D. Smyser,Alex R. Paciorkowski,Marcia C. Willing,John Woulfe,Soma Das,Chandree L. Beaulieu,Janet Marcadier,Michael T. Geraghty,Brendan J. Frey,Jacek Majewski,Dennis E. Bulman,William B. Dobyns,William B. Dobyns,Mark O'Driscoll,Kym M. Boycott +30 more
TL;DR: Findings of a congenital human disorder caused by a defective DUB protein that functions in endocytosis implicates ubiquitin-conjugate aggregation and elevated apoptosis as factors potentially influencing the progressive neuronal loss underlying MIC-CAP syndrome.
Journal ArticleDOI
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
Diana Alcantara,Andrew E. Timms,Karen W. Gripp,Karen W. Gripp,Laura Baker,Laura Baker,Kaylee Park,Sarah Collins,Chi Cheng,Fiona Stewart,Sarju G. Mehta,Anand Saggar,László Sztriha,Melinda Zombor,Oana Caluseriu,Ronit Mesterman,Margot I. Van Allen,Margot I. Van Allen,Adeline Jacquinet,Sofia Ygberg,Jonathan A. Bernstein,Aaron M. Wenger,Harendra Guturu,Gill Bejerano,Natalia Gomez-Ospina,Anna Lehman,Enrico Alfei,Chiara Pantaleoni,Valerio Conti,Renzo Guerrini,Ute Moog,John M. Graham,Robert F. Hevner,Robert F. Hevner,William B. Dobyns,William B. Dobyns,Mark O'Driscoll,Ghayda M. Mirzaa,Ghayda M. Mirzaa +38 more
TL;DR: Recognition of this broad clinical and molecular spectrum of AKT3 mutations is important for providing early diagnosis and appropriate management of affected individuals, and will facilitate targeted design of future human clinical trials using PI3K-AKT pathway inhibitors.