Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene (Q35067757)

6 August 2017

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

1 reference

6 August 2017

Annamaria la Torre

2

0 references

Lucia Anna Muscarella

Lucia Anna Muscarella

6

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Vito Guarnieri

Vito Guarnieri

22

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Valerio Pazienza

Valerio Pazienza

1

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Massimiliano Copetti

Massimiliano Copetti

8

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Massimo Carella

Massimo Carella

20

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author name string

Filomena Baorda

3

1 reference

6 August 2017

Michela Alfarano

4

1 reference

6 August 2017

Massimiliano Chetta

5

1 reference

6 August 2017

Claudia Battista

7

1 reference

6 August 2017

Dieter Kotzot

9

1 reference

6 August 2017

Klaus Kapelari

10

1 reference

6 August 2017

Dalia Al-Abdulrazzaq

11

1 reference

6 August 2017

Kusiel Perlman

12

1 reference

6 August 2017

Etienne Sochett

13

1 reference

6 August 2017

David E C Cole

14

1 reference

6 August 2017

Fabio Pellegrini

15

1 reference

6 August 2017

Lucie Canaff

16

1 reference

6 August 2017

Geoffrey N Hendy

17

1 reference

6 August 2017

Leonardo D'Agruma

18

1 reference

6 August 2017

Leopoldo Zelante

19

1 reference

6 August 2017

Alfredo Scillitani

21

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6 August 2017

language of work or name

English

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publication date

5 December 2013

1 reference

6 August 2017

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6 August 2017

8

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6 August 2017

e82292

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6 August 2017

12

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Creative Commons Attribution 3.0 Unported

6 August 2017

start time

5 December 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3855386/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Novel HRPT2/CDC73 gene mutations and loss of expression of parafibromin in Chinese patients with clinically sporadic parathyroid carcinomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

Protein structure prediction on the Web: a case study using the Phyre server

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

The tumor suppressor Cdc73 functionally associates with CPSF and CstF 3' mRNA processing factors

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

Nucleolar localization of parafibromin is mediated by three nucleolar localization signals

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

Parafibromin inhibits cancer cell growth and causes G1 phase arrest

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

The parafibromin tumor suppressor protein is part of a human Paf1 complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

Somatic and Germ-Line Mutations of theHRPT2Gene in Sporadic Parathyroid Carcinoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal.

8 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082292

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082292

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082292

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082292

Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082292

Molecular detection of neuron-specific ELAV-like-positive cells in the peripheral blood of patients with small-cell lung cancer.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855386

CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort

27 September 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082292

Genomic instability and increased expression of BUB1B and MAD2L1 genes in ductal breast carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082292

Identification of De Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor Diagnoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082292

A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome

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

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome

1 reference

12 December 2020

Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene

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

Re: Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations

1 reference

12 December 2020

Hyperparathyroidism-jaw tumor syndrome: a case report

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors

1 reference

12 December 2020

Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism

1 reference

12 December 2020

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0082292

Identifiers

DOI

1 reference

6 August 2017

0 references

1 reference

6 August 2017

1 reference