Associated Papers
A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.
Ganguly P et al.
Plos Genetics, 2021
34492006 (PubMed )
Supplement: pgen.1009774.s009.xlsx › Batch_1
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S et al.
Computational and Structural Biotechnology Journal, 2021
34141133 (PubMed )
Supplement: mmc1.docx
Sentinel interaction mapping - a generic approach for the functional analysis of human disease gene variants using yeast.
Young BP et al.
Disease Models & Mechanisms, 2020
Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.
Palumbo E et al.
Journal of Biomolecular Structure & Dynamics, 2020
31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S4_mutants_nochange.xlsx › Mutants_no_change
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.
Post KL et al.
Nature Communications, 2020
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
Schaaf CP et al.
Human Molecular Genetics, 2011
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer.
Figer A et al.
Clinical Genetics, 2002
PTEN mutations in malignant gliomas and their relation with meningeal gliomatosis.
Izumoto S et al.
Journal of Neuro-oncology, 2001
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