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CDC73 mutational status and loss of parafibromin in the outcome of . . .
Inactivating mutations of the CDC73 tumor suppressor gene have been reported in parathyroid carcinomas (PC), in association with the loss of nuclear expression of the encoded protein, parafibromin
Combination approach for CDC73-related parathyroid carcinoma in an . . .
To specify the cause of PHPT in pediatric patient, the next-generation sequencing using the panel of nine genes (MEN1, CASR, CDC73, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2C, CDKN2D) was carried out
CDC73 | Cancer Genetics Web
This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex
Clinical, genetic, and histopathologic investigation of CDC73 . . . - erc
We identified three germline inactivating mutations of the CDC73 gene in the probands and affected patients of the three kindreds, but also in some asymptomatic subjects
List of variants in gene CDC73 reported as pathogenic - ClinVar Miner
NM_024529 5 (CDC73): c 226C>T (p Arg76Ter) NM_024529 5 (CDC73): c 1001_1004del (p Thr334fs) NM_024529 5 (CDC73): c 1012C>T (p Gln338Ter) NM_024529 5 (CDC73): c 1052del (p Pro351fs) NM_024529 5 (CDC73): c 1052dup (p Asn352fs) NM_024529 5 (CDC73): c 1055del (p Asn352fs) NM_024529 5 (CDC73): c 1063_1066del (p Lys355fs)
CDC73-related hereditary hyperparathyroidism: Five new mutations and . . .
We analysed the clinical data from 16 patients (including three families) carrying mutations in the CDC73 gene We describe five new mutations gene variants, the corresponding phenotypes of these
Cell division cycle protein 73 homolog ( lt;i gt;CDC73 lt; i gt;) mutations in the . . .
This review will focus on the germline CDC73 mutations identified in patients with HPT-JT, FIHP or sporadic parathyroid tumors, as well as the somatic CDC73 mutations identified in parathyroid, renal, and ossifying-jaw tumors
doi:10. 1530 EC-13-0046
Sequencing of peripheral blood leucocytes or control tissue from patients carrying the CDC73 mutation showed that six mutations (E115X in three cases, R234X in two, and R139X in one) were germline
Combination approach for CDC73-related parathyroid carcinoma in an . . .
To specify the cause of PHPT in pediatric patient, the next-generation sequencing using the panel of nine genes (MEN1, CASR, CDC73, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2C, CDKN2D) was carried out

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