Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.
Tora R et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Prediction and evaluation of deleterious and disease causing non-synonymous SNPs (nsSNPs) in human NF2 gene responsible for neurofibromatosis type 2 (NF2).
Havranek B et al.
Journal of Biomolecular Structure & Dynamics, 2021
Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma.
Mao X et al.
International Journal of Genomics, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Cardoso L et al.
Human Mutation, 2017
Crystal structure of the N-terminal domain of human CDC73 and its implications for the hyperparathyroidism-jaw tumor (HPT-JT) syndrome.
Sun W et al.
Scientific Reports, 2017
Cytoplasmic parafibromin/hCdc73 targets and destabilizes p53 mRNA to control p53-mediated apoptosis.
Jo JH et al.
Nature Communications, 2014
Characterization of a new CDC73 missense mutation that impairs Parafibromin expression and nucleolar localization.
Masi G et al.
Plos One, 2014
The tumor suppressor CDC73 interacts with the ring finger proteins RNF20 and RNF40 and is required for the maintenance of histone 2B monoubiquitination.
Hahn MA et al.
Human Molecular Genetics, 2012
CDC73/HRPT2 CpG island hypermethylation and mutation of 5'-untranslated sequence are uncommon mechanisms of silencing parafibromin in parathyroid tumors.
Hahn MA et al.
Endocrine-related Cancer, 2010
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
Newey PJ et al.
Human Mutation, 2010
The effect of disease-associated HRPT2 mutations on splicing.
Hahn MA et al.
The Journal of Endocrinology, 2009
Accuracy of combined protein gene product 9.5 and parafibromin markers for immunohistochemical diagnosis of parathyroid carcinoma.
Howell VM et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.
Masi G et al.
Endocrine-related Cancer, 2008
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach?
Silveira LG et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
Human PAF complexes in endocrine tumors and pancreatic cancer.
Deb S et al.
Expert Review of Endocrinology & Metabolism, 2008
HRPT2 gene analysis and the diagnosis of parathyroid carcinoma.
Cetani F et al.
Expert Review of Endocrinology & Metabolism, 2008
Human RNA polymerase II-associated factor complex: dysregulation in cancer.
Chaudhary K et al.
Oncogene, 2007
Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.
Marsh DJ et al.
Expert Opinion on Medical Diagnostics, 2007
Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene.
Zhao J et al.
Oncogene, 2007
A case of hyperparathyroidism-jaw tumour syndrome found in the treatment of an ossifying fibroma in the maxillary bone.
Yamashita Y et al.
International Journal of Oral and Maxillofacial Surgery, 2007
Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal.
Bradley KJ et al.
Oncogene, 2007
Parafibromin inhibits cancer cell growth and causes G1 phase arrest.
Zhang C et al.
Biochemical and Biophysical Research Communications, 2006
Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.
Howell VM et al.
The Journal of Molecular Diagnostics : Jmd, 2006
Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias.
Gill AJ et al.
The American Journal of Surgical Pathology, 2006
Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome.
Mizusawa N et al.
Clinical Endocrinology, 2006
[Familial hyperparathyroidism].
Suzuki S
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
The human homologue of the RNA polymerase II-associated factor 1 (hPaf1), localized on the 19q13 amplicon, is associated with tumorigenesis.
Moniaux N et al.
Oncogene, 2006
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
Bradley KJ et al.
Clinical Endocrinology, 2006
Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin.
Hahn MA et al.
Oncogene, 2005
Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.
Bradley KJ et al.
Journal of Medical Genetics, 2005
Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression.
Woodard GE et al.
Oncogene, 2005
Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome.
Bradley KJ et al.
Journal of Internal Medicine, 2005
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors.
Cetani F et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP).
Villablanca A et al.
Journal of Medical Genetics, 2004
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.
Howell VM et al.
Journal of Medical Genetics, 2003
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
Carpten JD et al.
Nature Genetics, 2002