PMID- 21985978
OWN - NLM
STAT- MEDLINE
DCOM- 20120319
LR  - 20111011
IS  - 1720-8386 (Electronic)
IS  - 0391-4097 (Linking)
VI  - 34
IP  - 7 Suppl
DP  - 2011 Jul
TI  - Molecular pathogenesis of primary hyperparathyroidism.
PG  - 35-9
AB  - Primary hyperparathyroidism (PHPT) is a common endocrinopathy, mostly caused by a 
      monoclonal parathyroid adenoma. The hereditary syndromes include multiple 
      endocrine neoplasia types 1 (MEN 1) and 2A (MEN 2A), hereditary 
      hyperparathyroidism-jaw tumor (HPTJT), familial isolated hyperparathyroidism 
      (FIHP), familial hypocalciuric hypercalcemia (FHH) and neonatal severe 
      hyperparathyroidism (NSHPT). Mutations of MEN1 and CDKN1B genes are responsible 
      for MEN 1 in 70-80% and about 2% of cases, respectively. MEN1 and CDKN1B genes 
      have also a role in the pathogenesis of sporadic parathyroid adenomas. 
      HRPT2/CDC73 gene mutations are responsible for HPT-JT and sporadic parathyroid 
      carcinoma. MEN1 and HRPT2/CDC73 genes mutations have also been found in a subset 
      of FIHP families. FHH and NSHPT represent the mildest and severest variants of 
      PHPT, caused by heterozygous and homozygous mutations in the calcium sensing 
      receptor (CASR) gene, respectively.
FAU - Cetani, F
AU  - Cetani F
AD  - Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy. 
      cetani@endoc.med.unipi.it
FAU - Pardi, E
AU  - Pardi E
FAU - Borsari, S
AU  - Borsari S
FAU - Marcocci, C
AU  - Marcocci C
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Italy
TA  - J Endocrinol Invest
JT  - Journal of endocrinological investigation
JID - 7806594
RN  - 0 (CASR protein, human)
RN  - 0 (CDKN1B protein, human)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 147604-94-2 (Cyclin-Dependent Kinase Inhibitor p27)
SB  - IM
MH  - Animals
MH  - Cyclin-Dependent Kinase Inhibitor p27/genetics
MH  - Humans
MH  - Hyperparathyroidism/genetics
MH  - Hyperparathyroidism, Primary/*genetics
MH  - Multiple Endocrine Neoplasia Type 1/genetics
MH  - Multiple Endocrine Neoplasia Type 2a/genetics
MH  - Parathyroid Neoplasms/genetics
MH  - Proto-Oncogene Proteins/genetics
MH  - Receptors, Calcium-Sensing/genetics
EDAT- 2012/01/04 06:00
MHDA- 2012/03/20 06:00
CRDT- 2011/10/12 06:00
PHST- 2011/10/12 06:00 [entrez]
PHST- 2012/01/04 06:00 [pubmed]
PHST- 2012/03/20 06:00 [medline]
AID - 8004 [pii]
PST - ppublish
SO  - J Endocrinol Invest. 2011 Jul;34(7 Suppl):35-9.