Disorders of mineral metabolism have been evaluated with methods extending from epidemiology to cellular biology. Two forms of familial hyperparathyroidism have been characterized in detail. Familial hypocalciuric hypercalcemia is an autosomal dominant trait associated with abnormal interactions with calcium in parathyroid and kidney. Familial multiple endocrine neoplasia type 1 is an autosomal dominant trait causing hyperfunction of parathyroids, pancreatic iseit and anterior pituitary. It is associated with gradual but abnormal proliferation of the tissues affected. Genetic linkage studies in a large kindred have so far excluded close linkage to 13 biochemical markers. Plasma from affected persons shows high mitogenic activity upon cultured bovine parathyroid cells.
| Ozawa, Atsushi; Agarwal, Sunita K; Mateo, Carmen M et al. (2007) The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations. J Clin Endocrinol Metab 92:1948-51 |
| Marx, Stephen J; Simonds, William F (2006) Editorial: Imaging to detect early endocrine cancers. J Clin Endocrinol Metab 91:2861-3 |
| Scacheri, Peter C; Davis, Sean; Odom, Duncan T et al. (2006) Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis. PLoS Genet 2:e51 |
| Cerrato, Aniello; Parisi, Michael; Santa Anna, Sonia et al. (2006) Genetic interactions between Drosophila melanogaster menin and Jun/Fos. Dev Biol 298:59-70 |
| Marx, Stephen J (2005) Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer 5:367-75 |
| Marx, S J; Stratakis, C A (2005) Multiple endocrine neoplasia--introduction. J Intern Med 257:2-5 |
| Marx, Stephen J; Simonds, William F (2005) Hereditary hormone excess: genes, molecular pathways, and syndromes. Endocr Rev 26:615-61 |
| Agarwal, S K; Kennedy, P A; Scacheri, P C et al. (2005) Menin molecular interactions: insights into normal functions and tumorigenesis. Horm Metab Res 37:369-74 |
| Agarwal, Sunita K; Lee Burns, A; Sukhodolets, Karen E et al. (2004) Molecular pathology of the MEN1 gene. Ann N Y Acad Sci 1014:189-98 |
| Scacheri, Peter C; Crabtree, Judy S; Kennedy, Alyssa L et al. (2004) Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1. Mamm Genome 15:872-7 |
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