A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization (Q34635679)

3 August 2017

title

A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization (English)

1 reference

3 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20824794

8 July 2024

author

Maria Rosaria Ambrosio

object named as

Maria Rosaria Ambrosio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20824794

8 July 2024

Ettore C degli Uberti

object named as

Ettore C. degli Uberti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20824794

8 July 2024

Maria Chiara Zatelli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20824794

8 July 2024

Natalia S. Pellegata

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20824794

8 July 2024

Sara Molatore

1 reference

3 August 2017

Ilaria Marinoni

1 reference

3 August 2017

Misu Lee

1 reference

3 August 2017

Elke Pulz

1 reference

3 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20824794

8 July 2024

publication date

1 November 2010

1 reference

full work available at URL

3 August 2017

https://doi.org/10.1002/humu.21354

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20824794

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20824794/pdf/?tool=EBI

8 July 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20824794

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20824794/?tool=EBI

8 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20824794

https://europepmc.org/articles/PMC3051264

8 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20824794

https://europepmc.org/articles/PMC3051264?pdf=render

8 July 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20824794

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.21354

8 July 2024

1 reference

https://api.crossref.org/works/10.1002/HUMU.21354

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.21354

8 July 2024

1 reference

https://api.crossref.org/works/10.1002/HUMU.21354

8 July 2024

1 reference

3 August 2017

1 reference

3 August 2017

1 reference

3 August 2017

page(s)

E1825-35

1 reference

Tumor suppressor p27(Kip1) undergoes endolysosomal degradation through its interaction with sorting nexin 6.

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

AMP-activated protein kinase signaling results in cytoplasmic sequestration of p27.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

Argyrin a reveals a critical role for the tumor suppressor protein p27(kip1) in mediating antitumor activities in response to proteasome inhibition

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

The Cdk inhibitor p27 in human cancer: prognostic potential and relevance to anticancer therapy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

Cytoplasmic ubiquitin ligase KPC regulates proteolysis of p27(Kip1) at G1 phase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

p27Kip1 Inhibition of GRB2-SOS Formation Can Regulate Ras Activation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

CRM1/Ran-mediated nuclear export of p27(Kip1) involves a nuclear export signal and links p27 export and proteolysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

Farming, rural lifestyle and atopy in adults from southern Germany--results from the MONICA/KORA study Augsburg.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

p27(Kip1): regulation and function of a haploinsufficient tumor suppressor and its misregulation in cancer.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

Cyclin E-mediated elimination of p27 requires its interaction with the nuclear pore-associated protein mNPAP60.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

SKP2 is required for ubiquitin-mediated degradation of the CDK inhibitor p27

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

CDK inhibitors: positive and negative regulators of G1-phase progression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

The murine gene p27Kip1 is haplo-insufficient for tumour suppression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

Increased proteasome-dependent degradation of the cyclin-dependent kinase inhibitor p27 in aggressive colorectal carcinomas.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

Crystal structure of the p27Kip1 cyclin-dependent-kinase inhibitor bound to the cyclin A-Cdk2 complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

Role of the ubiquitin-proteasome pathway in regulating abundance of the cyclin-dependent kinase inhibitor p27

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

Allelic loss of chromosomes 8 and 19 in MENX-associated rat pheochromocytoma.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051264

Promoting apoptosis: a novel activity associated with the cyclin-dependent kinase inhibitor p27

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20824794

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.21354

1 reference

3 August 2017

1 reference

3 August 2017

1 reference