A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes (Q24320313)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21828076%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21828076%20AND%20SRC:MED&resulttype=core&format=json

Phosphatase and tensin homolog

9 February 2020

main subject

autism

0 references

1 reference

phosphatidylinositol dephosphorylation

GOA release 2020-03-11

1 reference

Isabel Rodríguez-Escudero

GOA release 2020-03-11

author

1

1 reference

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9 February 2020

Amparo Andrés-Pons

3

1 reference

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9 February 2020

Rafael Pulido

6

1 reference

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9 February 2020

0 references

María D Oliver

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21828076%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

María Molina

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21828076%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Víctor J Cid

5

1 reference

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9 February 2020

language of work or name

English

0 references

publication date

9 August 2011

1 reference

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9 February 2020

published in

Human Molecular Genetics

1 reference

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9 February 2020

volume

20

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9 February 2020

issue

21

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9 February 2020

page(s)

4132-4142

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Assessment of PTEN tumor suppressor activity in nonmammalian models: the year of the yeast.

9 February 2020

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PTEN: tumour suppressor, multifunctional growth regulator and more

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Protean PTEN: form and function

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PTEN level in tumor suppression: how much is too little?

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Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

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Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

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Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

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The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

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Non-genomic loss of PTEN function in cancer: not in my genes.

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The nuclear affairs of PTEN.

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Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association

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P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase

21 January 2018

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Unique biochemical properties of the protein tyrosine phosphatase activity of PTEN-demonstration of different active site structural requirements for phosphopeptide and phospholipid phosphatase activities of PTEN.

21 January 2018

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PTEN catalysis of phospholipid dephosphorylation reaction follows a two-step mechanism in which the conserved aspartate-92 does not function as the general acid--mechanistic analysis of a familial Cowden disease-associated PTEN mutation

21 January 2018

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In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.

21 January 2018

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Reconstitution of the mammalian PI3K/PTEN/Akt pathway in yeast

21 January 2018

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Phosphatidylinositol 3-kinase-dependent activation of mammalian protein kinase B/Akt in Saccharomyces cerevisiae, an in vivo model for the functional study of Akt mutations

21 January 2018

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Mutational spectra of PTEN/MMAC1 gene: a tumor suppressor with lipid phosphatase activity

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The lipid phosphatase activity of PTEN is critical for its tumor supressor function

21 January 2018

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The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region

21 January 2018

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The tumour-suppressor function of PTEN requires an N-terminal lipid-binding motif

21 January 2018

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Genetic causes of syndromic and non-syndromic autism

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Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist

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21 January 2018

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21 January 2018

New insights into PTEN.

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CREB is a novel nuclear target of PTEN phosphatase

21 January 2018

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Nuclear PTEN regulates the APC-CDH1 tumor-suppressive complex in a phosphatase-independent manner

21 January 2018

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The TPTE gene family: cellular expression, subcellular localization and alternative splicing

21 January 2018

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A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y

21 January 2018

1 reference

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PTEN 2, a Golgi-associated testis-specific homologue of the PTEN tumor suppressor lipid phosphatase

21 January 2018

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Suppression of cellular proliferation and invasion by the concerted lipid and protein phosphatase activities of PTEN.

21 January 2018

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PtdIns(3,4,5)P(3)-dependent and -independent roles for PTEN in the control of cell migration

21 January 2018

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Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation

21 January 2018

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Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway

21 January 2018

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Ubiquitination regulates PTEN nuclear import and tumor suppression

21 January 2018

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A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities

21 January 2018

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Pten regulates neuronal arborization and social interaction in mice

21 January 2018

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Autism in children and adolescents with cancer

21 January 2018

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21 January 2018

The genetics of autism

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR337

Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR337

Functional definition of relevant epitopes on the tumor suppressor PTEN protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR337

7 January 2021

The catalytic role of aspartic acid-92 in a human dual-specific protein-tyrosine-phosphatase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR337

7 January 2021

Nuclear PTEN: a tale of many tails

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR337

7 January 2021

C1-TEN is a negative regulator of the Akt/PKB signal transduction pathway and inhibits cell survival, proliferation, and migration

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR337

7 January 2021

A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR337

7 January 2021

Identifiers

DOI

10.1093/HMG/DDR337

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21828076%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017