Associated Papers
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S et al.
Computational and Structural Biotechnology Journal, 2021
34141133 (PubMed )
Supplement: mmc1.docx
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
PTEN proteoforms in biology and disease.
Malaney P et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Conformational stability and catalytic activity of PTEN variants linked to cancers and autism spectrum disorders.
Johnston SB et al.
Biochemistry, 2015
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
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
Lachlan KL et al.
Journal of Medical Genetics, 2007
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