Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.
Nature Communications
Post, Kathryn L KL; Belmadani, Manuel M; Ganguly, Payel P; Meili, Fabian F; Dingwall, Riki R; McDiarmid, Troy A TA; Meyers, Warren M WM; Herrington, Caitlin C; Young, Barry P BP; Callaghan, Daniel B DB; Rogic, Sanja S; Edwards, Matthew M; Niciforovic, Ana A; Cau, Alessandro A; Rankin, Catharine H CH; O'Connor, Timothy P TP; Bamji, Shernaz X SX; Loewen, Christopher J R CJR; Allan, Douglas W DW; Pavlidis, Paul P; Haas, Kurt K
One-Tube-Only Standardized Site-Directed Mutagenesis: An Alternative Approach to Generate Amino Acid Substitution Collections.
Plos One
Mingo, Janire J; Erramuzpe, Asier A; Luna, Sandra S; Aurtenetxe, Olaia O; Amo, Laura L; Diez, Ibai I; Schepens, Jan T G JT; Hendriks, Wiljan J A J WJ; Cortés, Jesús M JM; Pulido, Rafael R
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Buxbaum, Joseph D JD; Cai, Guiqing G; Chaste, Pauline P; Nygren, Gudrun G; Goldsmith, Juliet J; Reichert, Jennifer J; Anckarsäter, Henrik H; Rastam, Maria M; Smith, Christopher J CJ; Silverman, Jeremy M JM; Hollander, Eric E; Leboyer, Marion M; Gillberg, Christopher C; Verloes, Alain A; Betancur, Catalina C