Associated Papers
CDC73 c.1155-3A>G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression, and hyperparathyroidism-jaw tumor syndrome.
Needleman L et al.
Jbmr Plus, 2025
USP37 Deubiquitinates CDC73 in HPT-JT Syndrome.
Kim SY et al.
International Journal of Molecular Sciences, 2022
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
29142233 (PubMed )
Supplement: 41598_2017_15715_MOESM1_ESM.pdf
Upregulation of FGFR1 expression is associated with parathyroid carcinogenesis in HPT-JT syndrome due to an HRPT2 splicing mutation.
Lee JY et al.
International Journal of Oncology, 2014
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
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach?
Silveira LG et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.
Marsh DJ et al.
Expert Opinion on Medical Diagnostics, 2007
Loss of parafibromin expression in a subset of parathyroid adenomas.
Juhlin C et al.
Endocrine-related Cancer, 2006
[Prophylactic parathyroidectomy for familial parathyroid carcinoma].
Gimm O et al.
Der Chirurg; Zeitschrift Fur Alle Gebiete Der Operativen Medizen, 2006
A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome.
Moon SD et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
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