Associated Papers
Genotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.
Simonds WF et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.
Gheorghe AM et al.
International Journal of Molecular Sciences, 2024
Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.
Tora R et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Genetics and Epigenetics of Parathyroid Carcinoma.
Marini F et al.
Frontiers in Endocrinology, 2022
A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.
Le Collen L et al.
Endocrine, 2021
Cell-cell adhesion regulates Merlin/NF2 interaction with the PAF complex.
Roehrig AE et al.
Plos One, 2021
Genotype of CDC73 germline mutation determines risk of parathyroid cancer.
Li Y et al.
Endocrine-related Cancer, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Cardoso L et al.
Human Mutation, 2017
Genomic profiling reveals mutational landscape in parathyroid carcinomas.
Pandya C et al.
Jci Insight, 2017
Update on parathyroid carcinoma.
Cetani F et al.
Journal of Endocrinological Investigation, 2016
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
Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.
Pazienza V et al.
Plos One, 2013
Aromatase inhibitor treatment of menorrhagia and subsequent pregnancy in a patient with familial hyperparathyroidism-jaw tumor syndrome.
Wolff EF et al.
Fertility and Sterility, 2012
Absence of nucleolar parafibromin immunoreactivity in subsets of parathyroid malignant tumours.
Juhlin CC et al.
Virchows Archiv : an International Journal of Pathology, 2011
Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome.
Panicker LM 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
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
Bradley KJ et al.
Clinical Endocrinology, 2006