Mutation Analysis of theMEN1Gene in Multiple Endocrine Neoplasia Type 1, Familial Acromegaly and Familial Isolated Hyperparathyroidism1
نویسندگان
چکیده
منابع مشابه
Gastrin cell function in familial multiple endocrine neoplasia type I.
Recent studies have suggested that patients with multiple endocrine neoplasia type I (MEN I) may have abnormal serum gastrin secretion in the absence of gastrin producing tumours. G-(gastrin) cell function by three provocation tests in 20 patients with hyperparathyroidism from six MEN I-families were studied: each patient was an obligate carrier of the MEN I-gene. The serum gastrin response to ...
متن کاملGermline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.
Familial multiple endocrine neoplasia type 1 (FMEN1) is an autosomal dominant trait characterized by tumors of the parathyroids, gastro-intestinal endocrine tissue, anterior pituitary and other tissues. We recently cloned the MEN1 gene and confirmed its identity by finding mutations in FMEN1. We have now extended our mutation analysis to 34 more unrelated FMEN1 probands and to two related state...
متن کاملA novel endothelial cell growth factor circulates in familial multiple endocrine neoplasia type 1.
The term Multiple Endocrine Neoplasia Type 1 (MEN 1) is applied to familial as well as to sporadic cases (Brandi et al., 1987). -The familial form, known Familial Multiple Endocrine Neoplzzia Type 1 (FMEN 1) is an autosomal dominant disorder with hyperfunction of the parathyroids, the pancreatic islets, and the anterior pituitary. The sporadic cases are characterized by endocrine tumors in two ...
متن کاملGerm line mutation analysis in families with multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma.
The RET proto-oncogene has been identified as the multiple endocrine neoplasia type 2 disease gene. An association between specific RET mutation and disease phenotype has been reported. We present the phenotype-genotype of 12 Greek families with multiple endocrine neoplasia type 2A (MEN 2A) or familial medullary thyroid carcinoma (FMTC). Seventy members were studied and DNA analysis for RET mut...
متن کاملMultiple endocrine neoplasia type 1
Combined clinical and laboratory investigations of MEN-1 have resulted in an increased understanding of this disorder, which may be inherited as an autosomal dominant condition. Defining the features of each disease manifestation in MEN-1 has improved patient management and treatment and has facilitated a screening protocol. Application of the techniques of molecular biology has enabled the ide...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 1998
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.83.8.5059