(Q24532136)

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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

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Europe PubMed Central

PubMed publication ID

4 July 2017

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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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

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Charis Eng

16

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Jennifer L. Ivanovich

10

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Jennifer Ivanovich

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Europe PubMed Central

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4 July 2017

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Najah T Nassif

15

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ORCID Public Data File 2021

Robert Pilarski

3

object named as

Robert Pilarski

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Europe PubMed Central

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4 July 2017

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Xiao-Ping Zhou

1

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Europe PubMed Central

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4 July 2017

Kristin A Waite

2

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Europe PubMed Central

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4 July 2017

Heather Hampel

4

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Europe PubMed Central

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4 July 2017

Magali J Fernandez

5

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Europe PubMed Central

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4 July 2017

Cindy Bos

6

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Europe PubMed Central

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4 July 2017

Majed Dasouki

7

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Europe PubMed Central

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4 July 2017

Gerald L Feldman

8

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Europe PubMed Central

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4 July 2017

Lois A Greenberg

9

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Europe PubMed Central

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4 July 2017

Ellen Matloff

11

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Europe PubMed Central

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4 July 2017

Annette Patterson

12

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Europe PubMed Central

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4 July 2017

Mary Ella Pierpont

13

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4 July 2017

Donna Russo

14

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4 July 2017

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publication date

3 July 2003

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4 July 2017

American Journal of Human Genetics

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4 July 2017

73

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Europe PubMed Central

PubMed publication ID

4 July 2017

2

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Europe PubMed Central

PubMed publication ID

4 July 2017

404-411

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Germline mutation of the tumour suppressor PTEN in Proteus syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

24 March 2017

Protean PTEN: form and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

24 March 2017

Will the real Cowden syndrome please stand up: revised diagnostic criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

24 March 2017

The tumor suppressor PTEN is phosphorylated by the protein kinase CK2 at its C terminus. Implications for PTEN stability to proteasome-mediated degradation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

24 March 2017

Phosphorylation of the PTEN tail regulates protein stability and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

24 March 2017

PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

24 March 2017

Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

24 March 2017

Regulation of PTEN transcription by p53

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

24 March 2017

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

7 April 2017

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

27 September 2017

A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

27 September 2017

Epigenetic PTEN silencing in malignant melanomas without PTEN mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

27 September 2017

Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

27 September 2017

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

27 September 2017

Tumor suppressor and anti-inflammatory actions of PPARgamma agonists are mediated via upregulation of PTEN.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

30 May 2018

Germline mutations in PTEN are present in Bannayan-Zonana syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

30 May 2018

BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

29 November 2018

The Egr-1 transcription factor directly activates PTEN during irradiation-induced signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

29 November 2018

Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

29 November 2018

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

29 November 2018

Localization of the gene for Cowden disease to chromosome 10q22–23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180378

29 November 2018

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/12844284

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Promoter analysis of tumor suppressor gene PTEN: identification of minimum promoter region

1 reference

https://pubmed.ncbi.nlm.nih.gov/12844284

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bannayan-Riley-Ruvalcaba syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12844284

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12844284

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

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Europe PubMed Central

PubMed publication ID

4 July 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

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