Inherited PTEN mutations and the prediction of phenotype

Seminars in Cell & Developmental Biology
N R Leslie, M Longy

Abstract

PTEN has been heavily studied due to its role as a tumour suppressor and as a core inhibitory component of the phosphoinositide 3-kinase (PI3K) signalling network. It is a broadly expressed phosphatase which displays complexity and diversity in both its functions and regulation and accordingly, in the laboratory numerous classes of functionally distinct mutations have been generated. Inherited loss of function mutations in the PTEN gene were originally identified in sufferers of Cowden disease, but later shown to associate with more diverse human pathologies, mostly relating to cell and tissue overgrowth, leading to the use of the broader term, PTEN Hamartoma Tumour Syndrome. Recent phenotypic analysis of clinical cohorts of PTEN mutation carriers, combined with laboratory studies of the consequences of these mutations implies that stable catalytically inactive PTEN mutants may lead to the most severe phenotypes, and conversely, that mutants retaining partial function associate more frequently with a milder phenotype, with autism spectrum disorder often being diagnosed. Future work will be needed to confirm and to refine these genotype-phenotype relationships and convert this developing knowledge into improved patient managemen...Continue Reading

References

May 1, 1991·Annals of Neurology·G W PadbergF C de Beer
May 1, 1996·Nature Genetics·M R NelenC Eng
Aug 1, 1997·Nature Genetics·D J MarshC Eng
Jan 13, 1998·Nature Genetics·S OlschwangG Thomas
Nov 13, 1998·Proceedings of the National Academy of Sciences of the United States of America·M P MyersN K Tonks
Dec 18, 1998·American Journal of Medical Genetics·R T ZoriC Eng
Feb 17, 1999·Proceedings of the National Academy of Sciences of the United States of America·K PodsypaninaR Parsons
Sep 1, 1999·Proceedings of the National Academy of Sciences of the United States of America·M M GeorgescuH Hanafusa
Jun 24, 2000·Molecular and Cellular Biology·F VazquezW R Sellers
Aug 3, 2000·Human Mutation·D Bonneau, M Longy
Jul 6, 2001·The Biochemical Journal·N R LeslieC P Downes
Aug 16, 2001·Proceedings of the National Academy of Sciences of the United States of America·K PodsypaninaR Parsons
Feb 23, 2002·Cellular Signalling·Nick R Leslie, C Peter Downes
Jun 17, 2003·Proceedings of the National Academy of Sciences of the United States of America·Sudipto DasWonhwa Cho
Aug 26, 2003·Human Mutation·Charis Eng
Jan 22, 2005·Seminars in Cell & Developmental Biology·Andrew R Tee, John Blenis
Mar 16, 2006·Proceedings of the National Academy of Sciences of the United States of America·Francisca VazquezPeter N Devreotes
May 6, 2006·Neuron·Chang-Hyuk KwonLuis F Parada
Jun 30, 2006·Current Opinion in Genetics & Development·Pascale G Charest, Richard A Firtel
Jul 5, 2006·Cancer Research·Dan FreemanHong Wu
Jan 16, 2007·Cell·Lloyd C TrotmanPier Paolo Pandolfi
Jan 24, 2007·Current Biology : CB·Nick R LeslieCornelis J Weijer
Mar 29, 2007·The British Journal of Dermatology·R Happle
Apr 12, 2007·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Joseph D BuxbaumCatalina Betancur
Jul 3, 2007·Cell·Brendan D Manning, Lewis C Cantley
Jan 19, 2008·Cancer Science·Akira SuzukiTakehiko Sasaki
Apr 24, 2008·Nature Clinical Practice. Oncology·Deborah J MarshGlenn M Marshall
Aug 30, 2008·Proceedings of the National Academy of Sciences of the United States of America·Susan WeeChristoph Lengauer
Sep 2, 2008·Clinical Genetics·A OrricoV Sorrentino
Sep 17, 2008·Oncogene·T L Yuan, L C Cantley

❮ Previous
Next ❯

Citations

Mar 24, 2016·Seminars in Cell & Developmental Biology·Andrew R Tee
Aug 16, 2016·Nature Reviews. Cancer·Finn Cilius NielsenClaus Storgaard Sørensen
Jun 25, 2016·Nature Reviews. Neurology·Peter B Crino
Mar 16, 2017·International Journal of Molecular Sciences·Johan-Owen De CraeneSylvie Friant
May 19, 2017·Journal of the National Cancer Institute·Jac A NickoloffRobert Hromas
Jun 22, 2017·CNS Neuroscience & Therapeutics·Jie TangWei Yang
Apr 18, 2018·Journal of Biomolecular Structure & Dynamics·Iris Nira SmithCharis Eng
Mar 8, 2019·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Frederic BertinoSarah S Milla
Mar 13, 2020·American Journal of Medical Genetics. Part a·Tadashi ShiohamaEmi Takahashi
Oct 2, 2019·Cold Spring Harbor Perspectives in Medicine·Joanne Ngeow, Charis Eng
Jul 5, 2016·Journal of Neuroscience Research·Christina Gross
Jan 8, 2019·The Journal of Clinical Investigation·Lamis YehiaCharis Eng
Aug 23, 2019·Annual Review of Medicine·Lamis YehiaCharis Eng
Oct 14, 2019·Journal of Cutaneous Pathology·Lucia KrivošíkováPavel Babál
Nov 20, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kim M Keppler-NoreuilJulian A Martinez-Agosto
Aug 21, 2019·Cold Spring Harbor Perspectives in Medicine·Sebastian Rademacher, Britta J Eickholt
Apr 18, 2019·NPJ Precision Oncology·Janire MingoRafael Pulido
Jun 21, 2019·Cancers·Robert Pilarski
Sep 11, 2019·Cold Spring Harbor Perspectives in Medicine·Rafael PulidoJosé I López
Aug 28, 2019·Cold Spring Harbor Perspectives in Medicine·Nicholas HasleDouglas M Fowler
Jul 25, 2018·Nature Reviews. Molecular Cell Biology·Soroush TahmasebiNahum Sonenberg
May 23, 2018·Nature Genetics·Kenneth A MatreyekDouglas M Fowler
Dec 22, 2020·The Journal of Clinical Endocrinology and Metabolism·Jessica R SmithAri J Wassner
Oct 17, 2019·Cold Spring Harbor Perspectives in Medicine·Nahal HaddadiDeborah J Marsh
Jul 17, 2021·Molecular Genetics & Genomic Medicine·Hande KaymakcalanAdife Gulhan Ercan-Sencicek
Jul 15, 2021·Pediatric Dermatology·Eva B NiklinskaSharon E Albers

❮ Previous
Next ❯

Related Concepts

Related Feeds

AKT Pathway

This feed focuses on the AKT serine/threonine kinase, which is an important signaling pathway involved in processes such as glucose metabolism and cell survival.

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.

Related Papers

Methods : a Companion to Methods in Enzymology
Laura Spinelli, N R Leslie
Biochimica Et Biophysica Acta
A SmithA Ashworth
Proceedings of the National Academy of Sciences of the United States of America
L C Cantley, B G Neel
© 2021 Meta ULC. All rights reserved