Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes (Q38089260)

28 August 2017

Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes (English)

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primary hyperparathyroidism

28 August 2017

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Deborah J Marsh

1

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28 August 2017

Michael A Hahn

series ordinal

2

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28 August 2017

Viive M Howell

series ordinal

3

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28 August 2017

Anthony J Gill

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4

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28 August 2017

language of work or name

English

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publication date

1 November 2007

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Expert Opinion on Medical Diagnostics

28 August 2017

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28 August 2017

1

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28 August 2017

377-392

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28 August 2017

3

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Primary hyperparathyroidism and heart disease--a review

28 August 2017

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Hyperparathyroid and hypoparathyroid disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Molecular pathology of parathyroid tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Primary hyperparathyroidism: controversies in surgical management.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Parathyroid surgery in familial hyperparathyroid disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Multiple endocrine neoplasia type 2: clinical aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Hyperparathyroidism-jaw tumour syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

The role of the extracellular calcium-sensing receptor in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Inhibition of RET tyrosine kinase by SU5416.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Molecular genetics of multiple endocrine neoplasia types 1 and 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Positional cloning of the gene for multiple endocrine neoplasia-type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Therapeutic use of calcimimetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Multiple endocrine neoplasia type 1: new clinical and basic findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Functional studies of the MEN1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Menin, the product of the MEN1 gene, is a nuclear protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Menin molecular interactions: insights into normal functions and tumorigenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Genetic insights into familial cancers-- update and recent discoveries

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Menin and its interacting proteins: elucidation of menin function

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Menin inactivation leads to loss of transforming growth factor beta inhibition of parathyroid cell proliferation and parathyroid hormone secretion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Mechanisms of disease: multiple endocrine neoplasia type 1-relation to chromatin modifications and transcription regulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

The gene for multiple endocrine neoplasia type 1: recent findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Molecular pathology of the MEN1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

The GDNF family: signalling, biological functions and therapeutic value

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

The expression of RET and its multiple splice forms in developing human kidney.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

The multiple endocrine neoplasia syndromes

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530059.1.3.377

ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Identification of RET kinase inhibitors as potential new treatment for sporadic and inherited thyroid cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

A case of hyperparathyroidism-jaw tumour syndrome found in the treatment of an ossifying fibroma in the maxillary bone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

21 January 2018

Two hits revisited again

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Genetic studies of a family with hereditary hyperparathyroidism-jaw tumour syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Parafibromin inhibits cancer cell growth and causes G1 phase arrest

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Cdc73p and Paf1p are found in a novel RNA polymerase II-containing complex distinct from the Srbp-containing holoenzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Molecular evidence indicating that the yeast PAF complex is required for transcription elongation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

The Paf1 complex physically and functionally associates with transcription elongation factors in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

The Paf1 complex has functions independent of actively transcribing RNA polymerase II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

The Rtf1 component of the Paf1 transcriptional elongation complex is required for ubiquitination of histone H2B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

The Paf1 complex is essential for histone monoubiquitination by the Rad6-Bre1 complex, which signals for histone methylation by COMPASS and Dot1p

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Phenotypic analysis of Paf1/RNA polymerase II complex mutations reveals connections to cell cycle regulation, protein synthesis, and lipid and nucleic acid metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

The yeast pafl-rNA polymerase II complex is required for full expression of a subset of cell cycle-regulated genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Intraoperative diagnosis and treatment of parathyroid cancer and atypical parathyroid adenoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.1.3.377

21 January 2018

Identifiers

DOI

10.1517/17530059.1.3.377

1 reference

28 August 2017

1 reference