Publications:

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

Publication Date: 2020-04-29

Variant appearance in text: PTEN: D22E

PubMed Link: 32350270

Variant Present in the following documents:

• Main text
• 41467_2020_Article_15943.pdf

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Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Brain Sciences

Schepici, Giovanni G; Cavalli, Eugenio E; Bramanti, Placido P; Mazzon, Emanuela E

Publication Date: 2019-10-03

Variant appearance in text: PTEN: Asp22Glu

PubMed Link: 31623367

Variant Present in the following documents:

• Main text
• brainsci-09-00265.pdf

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PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review.

Medical Journal Of The Islamic Republic Of Iran

Zahedi Abghari, Fateme F; Moradi, Yousef Y; Akouchekian, Mansoureh M

Publication Date: 2019

Variant appearance in text: PTEN: D22E

PubMed Link: 31086789

Variant Present in the following documents:

• Main text
• mjiri-33-10.pdf

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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

Publication Date: 2016

Variant appearance in text: PTEN: D22E

PubMed Link: 27548698

Variant Present in the following documents:

• Main text

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