Publications:

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Efficient mutation screening for cervical cancers from circulating tumor DNA in blood.

Bmc Cancer

Lee, Sun-Young SY; Chae, Dong-Kyu DK; Lee, Sung-Hun SH; Lim, Yohan Y; An, Jahyun J; Chae, Chang Hoon CH; Kim, Byung Chul BC; Bhak, Jong J; Bolser, Dan D; Cho, Dong-Hyu DH

Publication Date: 2020-07-27

Variant appearance in text: PTEN: 232A>G; T78A

PubMed Link: 32718341

Variant Present in the following documents:

• 12885_2020_7161_MOESM1_ESM.xlsx, sheet 1

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Roles for a lipid phosphatase in the activation of its opposing lipid kinase.

Molecular Biology Of The Cell

Strunk, Bethany S BS; Steinfeld, Noah N; Lee, Sora S; Jin, Natsuko N; Muñoz-Rivera, Cecilia C; Meeks, Garrison G; Thomas, Asha A; Akemann, Camille C; Mapp, Anna K AK; MacGurn, Jason A JA; Weisman, Lois S LS

Publication Date: 2020-08-01

Variant appearance in text: PTEN: T78A

PubMed Link: 32583743

Variant Present in the following documents:

• Main text
• mbc-31-1835.pdf

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Sentinel interaction mapping - a generic approach for the functional analysis of human disease gene variants using yeast.

Disease Models & Mechanisms

Young, Barry P BP; Post, Kathryn L KL; Chao, Jesse T JT; Meili, Fabian F; Haas, Kurt K; Loewen, Christopher C

Publication Date: 2020-07-08

Variant appearance in text: PTEN: T78A

PubMed Link: 32471850

Variant Present in the following documents:

• Main text

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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: T78A

PubMed Link: 32350270

Variant Present in the following documents:

• Main text
• 41467_2020_Article_15943.pdf

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Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal Of Medical Genetics

Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR

Publication Date: 2015-02

Variant appearance in text: PTEN: 232A>G

PubMed Link: 25527629

Variant Present in the following documents:

• jmedgenet-2014-102803-s1.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: PTEN: T78A

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.

Human Molecular Genetics

Schaaf, Christian P CP; Sabo, Aniko A; Sakai, Yasunari Y; Crosby, Jacy J; Muzny, Donna D; Hawes, Alicia A; Lewis, Lora L; Akbar, Humeira H; Varghese, Robin R; Boerwinkle, Eric E; Gibbs, Richard A RA; Zoghbi, Huda Y HY

Publication Date: 2011-09-01

Variant appearance in text: PTEN: T78A

PubMed Link: 21624971

Variant Present in the following documents:

• Main text
• ddr243.pdf

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Genetic diversity in melanoma metastases from a patient with xeroderma pigmentosum.

The Journal Of Investigative Dermatology

Wang, Yun Y; Tan, Xiao Hui XH; DiGiovanna, John J JJ; Lee, Chyi-Chia Richard CC; Stern, Jere B JB; Raffeld, Mark M; Jaffe, Elaine S ES; Kraemer, Kenneth H KH

Publication Date: 2010-04

Variant appearance in text: PTEN: Thr78Ala

PubMed Link: 19956187

Variant Present in the following documents:

• Main text

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