(Q47159773)

10 January 2018

title

Functional characterization of a CDKN1B mutation in a Sardinian kindred with multiple endocrine neoplasia type 4 (MEN4). (English)

1 reference

10 January 2018

multiple endocrine neoplasia

main subject

1 reference

Elena Pardi

1

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10 January 2018

Stefano Mariotti

2

1 reference

10 January 2018

Natalia S Pellegata

3

1 reference

10 January 2018

Katiuscia Benfini

4

1 reference

10 January 2018

Simona Borsari

5

1 reference

10 January 2018

Federica Saponaro

6

1 reference

10 January 2018

Liborio Torregrossa

7

1 reference

10 January 2018

Antonello Cappai

8

1 reference

10 January 2018

Chiara Satta

9

1 reference

10 January 2018

Marco Mastinu

10

1 reference

10 January 2018

Claudio Marcocci

11

1 reference

10 January 2018

Filomena Cetani

12

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10 January 2018

publication date

21 November 2014

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10 January 2018

published in

Endocrine Connections

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10 January 2018

volume

4

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10 January 2018

issue

1

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10 January 2018

page(s)

1-8

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10 January 2018

Multiple endocrine neoplasia syndromes associated with mutation of p27.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Multiple endocrine neoplasia type 4.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

The landscape of cancer genes and mutational processes in breast cancer

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Clinical practice. Primary hyperparathyroidism

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

p27 as Jekyll and Hyde: regulation of cell cycle and cell motility

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Post-translational regulation of the tumor suppressor p27(KIP1).

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Haploinsufficiency of CDKN1B contributes to leukemogenesis in T-cell prolymphocytic leukemia

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Duality of p27Kip1 function in tumorigenesis

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Understanding p27(kip1) deregulation in cancer: down-regulation or mislocalization

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Hyperparathyroid and hypoparathyroid disorders

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Accommodating haploinsufficient tumor suppressor genes in Knudson's model

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

The murine gene p27Kip1 is haplo-insufficient for tumour suppression

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Alterations of the p27KIP1 gene in non-Hodgkin's lymphomas and adult T-cell leukemia/lymphoma

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

A whole MEN1 gene deletion flanked by Alu repeats in a family with multiple endocrine neoplasia type 1.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

A heterozygous frameshift mutation in exon 1 of CDKN1B gene in a patient affected by MEN4 syndrome.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Somatic mutation of CDKN1B in small intestine neuroendocrine tumors

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27Kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Haploinsufficient and predominant expression of multiple endocrine neoplasia type 1 (MEN1)-related genes, MLL, p27Kip1 and p18Ink4C in endocrine organs.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5713151

Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

15 August 2018

1 reference

12 December 2020

Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1)

1 reference

12 December 2020

Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions

1 reference

12 December 2020

Different somatic alterations of the HRPT2 gene in a patient with recurrent sporadic primary hyperparathyroidism carrying an HRPT2 germline mutation

1 reference

12 December 2020

Clinical Testing for Mutations in theMEN1Gene in Sweden: A Report on 200 Unrelated Cases

1 reference

12 December 2020

Identifiers

DOI

10.1530/EC-14-0116

1 reference

10 January 2018

PMCID

5713151

1 reference

10 January 2018

PubMed ID

25416039

1 reference

10 January 2018