Characterization of a new CDC73 missense mutation that impairs Parafibromin expression and nucleolar localization (Q33632809)

28 July 2017

Characterization of a new CDC73 missense mutation that impairs Parafibromin expression and nucleolar localization (English)

1 reference

28 July 2017

Barbara Mantelli

4

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Alessandro Sinigaglia

Alessandro Sinigaglia

3

0 references

Gianmaria Pennelli

Gianmaria Pennelli

5

0 references

Ignazio Castagliuolo

Ignazio Castagliuolo

6

0 references

Luisa Barzon

8

Luisa Barzon

1 reference

28 July 2017

7

Giorgio Palù

1 reference

28 July 2017

1

Giulia Masi

1 reference

28 July 2017

2

Maurizio Iacobone

1 reference

PubMed ID

24842573

28 July 2017

language of work or name

English

0 references

publication date

19 May 2014

1 reference

28 July 2017

1 reference

28 July 2017

9

1 reference

28 July 2017

e97994

1 reference

28 July 2017

5

1 reference

Creative Commons Attribution 4.0 International

28 July 2017

start time

19 May 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

Crystallographic analysis of the conserved C-terminal domain of transcription factor Cdc73 from Saccharomyces cerevisiae reveals a GTPase-like fold

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

Cdc73 Subunit of Paf1 Complex Contains C-terminal Ras-like Domain That Promotes Association of Paf1 Complex with Chromatin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

SHP2 tyrosine phosphatase converts parafibromin/Cdc73 from a tumor suppressor to an oncogenic driver

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

MutationTaster evaluates disease-causing potential of sequence alterations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

The tumor suppressor, parafibromin, mediates histone H3 K9 methylation for cyclin D1 repression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

Parafibromin--functional insights

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

Nucleolar localization of parafibromin is mediated by three nucleolar localization signals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

Separation of the Saccharomyces cerevisiae Paf1 complex from RNA polymerase II results in changes in its subnuclear localization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4026411

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0097994

Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0097994

Absence of nucleolar parafibromin immunoreactivity in subsets of parathyroid malignant tumours.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0097994

Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism

21 January 2018

1 reference

12 December 2020

Frequent Large GermlineHRPT2Deletions in a French National Cohort of Patients With Primary Hyperparathyroidism

1 reference

12 December 2020

Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism

1 reference

12 December 2020

Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0097994

Identifiers

DOI

1 reference

28 July 2017

0 references

1 reference

28 July 2017

1 reference

PubMed ID

24842573