Parafibromin--functional insights.

Parafibromin--functional insights.

Parafibromin is a predominantly nuclear protein with a tumour suppressor role in the development of hereditary and nonhereditary parathyroid carcinomas, and the hyperparathyroidism-jaw tumour syndrome, which is associated with renal and uterine tumours. Parafibromin is a component of the highly cons...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	Newey, P, Bowl, MR, Thakker, R
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2009

Antzeko izenburuak

Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal.
nork: Bradley, K, et al.
Argitaratua: (2007)

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
nork: Bradley, K, et al.
Argitaratua: (2006)

Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.
nork: Bradley, K, et al.
Argitaratua: (2005)

Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice.
nork: Wang, P, et al.
Argitaratua: (2008)

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
nork: Newey, P, et al.
Argitaratua: (2010)

The roles of the tumor suppressor parafibromin in cancer
nork: Hua-chuan Zheng, et al.
Argitaratua: (2022-09-01)

Expression of parafibromin in major renal cell tumors
nork: C. Cui, et al.
Argitaratua: (2012-10-01)

Significance of Parafibromin Expression in Laryngeal Squamous Cell Carcinomas
nork: Inju Cho, et al.
Argitaratua: (2016-07-01)

The prognostic value of ultrasound features and parafibromin expression in parathyroid carcinoma
nork: Ruifeng Liu, et al.
Argitaratua: (2025-03-01)

Parafibromin Staining Characteristics in Urothelial Carcinomas and Relationship with Prognostic Parameters
nork: Serap Karaarslan, et al.
Argitaratua: (2015-09-01)

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
nork: Carpten, J, et al.
Argitaratua: (2002)

Dephosphorylated parafibromin is a transcriptional coactivator of the Wnt/Hedgehog/Notch pathways
nork: Ippei Kikuchi, et al.
Argitaratua: (2016-09-01)

Transcriptional Co-activator Functions of YAP and TAZ Are Inversely Regulated by Tyrosine Phosphorylation Status of Parafibromin
nork: Chao Tang, et al.
Argitaratua: (2018-03-01)

Parafibromin as a Diagnostic Instrument for Parathyroid Carcinoma-Lone Ranger or Part of the Posse?
nork: C. Christofer Juhlin, et al.
Argitaratua: (2010-01-01)

Parafibromin governs cell polarity and centrosome assembly in Drosophila neural stem cells.
nork: Qiannan Deng, et al.
Argitaratua: (2022-10-01)

Parafibromin governs cell polarity and centrosome assembly in Drosophila neural stem cells
nork: Qiannan Deng, et al.
Argitaratua: (2022-10-01)

Adaptation to reductions in chilling availability using variation in PLANT HOMOLOGOUS TO PARAFIBROMIN in Brassica napus
nork: Samuel Warner, et al.
Argitaratua: (2024-10-01)

Characterization of a new CDC73 missense mutation that impairs Parafibromin expression and nucleolar localization.
nork: Giulia Masi, et al.
Argitaratua: (2014-01-01)

The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3
nork: Marx Stephen J, et al.
Argitaratua: (2008-08-01)

The Role of Parafibromin, Galectin-3, HBME-1, and Ki-67 in the Differential Diagnosis of Parathyroid Tumors
nork: Serap Karaarslan, et al.
Argitaratua: (2015-11-01)

MiR-15a/miR-16-1 expression inversely correlates with cyclin D1 levels in Men1 pituitary NETs
nork: Lines, K, et al.
Argitaratua: (2018)

Novel HRPT2/CDC73 gene mutations and loss of expression of parafibromin in Chinese patients with clinically sporadic parathyroid carcinomas.
nork: Ou Wang, et al.
Argitaratua: (2012-01-01)

Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice.
nork: Newey, P, et al.
Argitaratua: (2011)

Compound heterozygous mutations of the AIRE-1 gene causing autoimmune polyendocrinopathy type 1.
nork: Bowl, MR, et al.
Argitaratua: (2001)

Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors.
nork: Newey, P, et al.
Argitaratua: (2009)

Molecular diagnosis of hypoparathyroidism: 2 illustrative cases
nork: Hampson, G, et al.
Argitaratua: (2003)

Mutant prolactin receptor and familial hyperprolactinemia.
nork: Newey, P, et al.
Argitaratua: (2014)

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
nork: Andrew Nesbit, M, et al.
Argitaratua: (2004)

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
nork: Mirczuk, S, et al.
Argitaratua: (2010)

X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
nork: Bowl, MR, et al.
Argitaratua: (2001)

Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density.
nork: Harding, B, et al.
Argitaratua: (2006)

Genetic approaches to metabolic bone diseases
nork: Hannan, F, et al.
Argitaratua: (2018)

A family with hypoparathyroidism, deafness and renal anomaly syndrome - Clinical and molecular studies
nork: Dobbie, A, et al.
Argitaratua: (2001)

An activating calcium sensing receptor mutation associated with normocalcemic (idiopathic) hypercalciuric nephrolithiasis.
nork: Christie, P, et al.
Argitaratua: (2002)

Genetics of monogenic disorders of calcium and bone metabolism
nork: Newey, PJ, et al.
Argitaratua: (2021)

Genetics of skeletal disorders
nork: Hannan, FM, et al.
Argitaratua: (2020)

Mice deleted for Cell division cycle 73 gene develop parathyroid and uterine tumours: model for the Hyperparathyroidism-Jaw Tumour Syndrome
nork: Walls, G, et al.
Argitaratua: (2017)

The calcium-sensing receptor: insights into extracellular calcium homeostasis in health and disease.
nork: Pearce, S, et al.
Argitaratua: (1997)

Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers.
nork: Lemos, M, et al.
Argitaratua: (2009)

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
nork: Bowl, MR, et al.
Argitaratua: (2005)