Multiple endocrine neoplasias

Annual Review of Physiology

Volumn 62, Issue , 2000, Pages 377-411

  Hoff, A O ^a   Cote, G J ^a   Gagel, R F ^a  

^a UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

Carney complex; MEN1; MEN2; Menin; Neurofibromatosis; RET proto oncogene; Von Hippel Lindau disease

Indexed keywords

CANCER RESEARCH; CARNEY COMPLEX; CELL DEATH; CELL DIFFERENTIATION; CELL GROWTH; GENE FUNCTION; GENE STRUCTURE; HUMAN; MULTIPLE ENDOCRINE NEOPLASIA; NEUROFIBROMATOSIS; PRIORITY JOURNAL; REVIEW; VON HIPPEL LINDAU DISEASE;

ANIMALS; HUMANS; MULTIPLE ENDOCRINE NEOPLASIA; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; MUTATION;

EID: 0033861263     PISSN: 00664278     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.physiol.62.1.377     Document Type: Review

References (208)

1. Multiple endocrine neoplasia type 1. Clinical features and screening
2. Multiple endocrine neoplasia
3. Spectrum of pituitary disease in multiple endocrine neoplasia type 1 (MEN 1): Clinical, biochemical, and radiological features of pituitary disease in a large MEN1 kindred
4. Adrenal lesions in a large kindred with multiple endocrine neoplasia type I
5. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1
6. Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma
7. Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors
8. Loss of heterozygosity at 11q13: Analysis of pituitary tumors, lung carcinoids, lipomas, and other uncommon tumors in subjects with familial multiple endocrine neoplasia type 1
9. Allelic deletions on chromosome 11q13 in multiple tumors from individual MEN1 patients
10. The European Consortium on MEN1. Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1)
11. Positional cloning of the gene for multiple endocrine neoplasia type 1
12. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1
13. The human gene mutation database
14. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states
15. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1
16. Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN 1) gene
17. Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders
18. Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases
19. Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism
20. Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1
21. Multiple endocrine neoplasia-syndromes of the twentieth century
22. Screening for MEN1 mutations in patients with atypical endocrine neoplasia
23. Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism
24. Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1
25. Allelic deletions on chromosome 11q13 in multiple endocrine neoplasia type 1-associated and sporadic gastrinomas and pancreatic endocrine tumors
26. Allelic loss in parathyroid tumors from individuals homozygous for multiple endocrine neoplasia type 1
27. Chromosome 11q13 abnormalities in human cancer
28. Chromosome 11 allele loss in sporadic insulinoma
29. Loss of heterozygosity of markers on chromosome 11 in tumors from patients with multiple endocrine neoplasia syndrome type 1
30. 11q13 allelic loss in pituitary tumors in patients with multiple endocrine neoplasia syndrome type 1
31. Somatic mutation of the MEN1 gene in parathyroid tumours
32. Alterations of the MEN1 gene in sporadic parathyroid tumors
33. Parathyroid MEN1 gene mutations in relation toclinical characteristics of nonfamilial primary hyperparathyroidism
34. Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas
35. Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung
36. Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese
37. Mutations of the MEN1 tumor suppressor gene in pituitary tumors
38. Molecular characterization of the MEN1 tumor suppressor gene in sporadic pituitary tumors
39. MEN1 gene analysis in sporadic adrenocortical neoplasms
40. Menin, the product of the MEN1 gene, is a nuclear protein
41. Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription
42. AP-1 function and regulation
43. Characterization of junD: A new member of the jun protooncogene family
44. Mapping the gene for hereditary hyperparathyroidism and prolactinoma (MEN1Burin) to chromosome 11q: Evidence for a founder effect in patients from Newfoundland
45. Clinicopathologic studies of thymic carcinoids in multiple endocrine neoplasia type 1
46. Thymic carcinoids in multiple endocrine neoplasia type 1
47. Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland
48. Characterization of mutations in patients with multiple endocrine neoplasia type 1
49. The association of pheochromocytoma with carcinoma of the thyroid gland
50. Familial medullary thyroid carcinoma without associated endocrinopathies: A distinct clinical entity
51. Hereditary localized pruritus in affected members of a kindred with multiple endocrine neoplasia type 2A (Sipple's syndrome)
52. A kindred with multiple endocrine neoplasia type 2A associated with pruritic skin lesions
53. Multiple endocrine neoplasia type 2a associated with cutaneous lichen amyloidosis
54. Hirschsprung's disease in a family with multiple endocrine neoplasia type 2
55. Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia type 2b
56. Multiple endocrine neoplasia type 2b
57. Mucosal neuroma, pheochromocytoma and medullary thyroid carcinoma: Multiple endocrine neoplasia type 3
58. ret transforming gene encodes a fusion protein homologous to tyrosine kinases
59. Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains
60. Structure and expression of the ret transforming gene
61. Cadherin cell adhesion receptors as a morphogenetic regulator
62. The physical map of the human RET proto-oncogene
63. Characterization of RET proto-oncogene 3' splicing variants and polyadenylation sites: A novel C-terminus for RET
64. Activation of a novel human transforming gene, ret, by DNA rearrangement
65. High frequency of activation of tyrosine kinase oncogenes in human papillary thyroid carcinoma
66. PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas
67. cDNA cloning and characterization of ret activated in a human papillary thyroid carcinoma cell line
68. Frequent activation of RET protooncogene by fusion with a new activating gene in papillary thyroid carcinomas
69. Low frequency of rearrangements of the ret and trk proto-oncogenes in Japanese thyroid papillary carcinomas
70. Molecular characterization of RET/ PTC3; a novel rearranged version of the RET proto-oncogene in a human thyroid papillary carcinoma
71. RET in human development and oncogenesis
72. Expression of the c-ret proto-oncogene during mouse embryogenesis
73. Expression of the RET proto-oncogene in human embryos
74. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
75. RET-deficient mice: An animal model for Hirschsprung's disease and renal agenesis
76. Characterization of a multicomponent receptor for GDNF
77. GDNF signalling through the ret receptor tyrosine kinase
78. Functional receptor for GDNF encoded by the c-ret proto-oncogene
79. GDNF-induced activation of the Ret protein tyrosine kinase is mediated by GDNFR-a, a novel receptor for GDNF
80. Defects in enteric innervation and kidney development in mice lacking GDNF
81. Renalagenesis and the absence of enteric neurons in mice lacking GDNF
82. Renal and neuronal abnormalities in mice lacking GDNF
83. GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF
84. GFRalphal is an essential receptor component for GDNF in the developing nervous system and kidney
85. GFRalpha-2 and GFRalpha 3 are two new receptors for ligands of the GDNF family
86. TmR2, a novel receptor that mediates neurturin and GDNF signaling through
87. Glial cell line-derived neurotrophic factor dependent RET activation can be mediated by two different cell-surface accessory proteins
88. A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor
89. Cloning, mRNA distribution and chromosomal localisation of the gene for glial cell line-derived neurotrophic factor receptor beta, a homologue to GDNFRalpha
90. Neurturin, a novel neurotrophic factor, is localized to mouse chromosome 17 and human chromosome 19p13.3
91. Neurturin, a relative of glial-cell-line derived neurotrophic factor
92. Persephin, a novel neurotrophic factor related to GDNF and neurturin
93. Artemin, a novel member of the GDNF ligand family, supports peripheral and central neurons and signals through the GFRalpha3-RET receptor complex
94. Neurturin exerts potent actions on survival and function of midbrain dopaminergic neurons
95. GFR alpha-4 and the tyrosine kinase Ret form a functional receptor complex for persephin
96. The RET-glial cell-derived neurotrophic factor (GDNF) pathway stimulates migration and chemoattraction of epithelial cells
97. A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10
98. Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage
99. Human ret protooncogene mapped to chromosome 10q11.2
100. The oncogene associated with human papillary thyroid carcinoma (PTC) is assigned to chromosome 10 q11-q12 in the same region as multiple endocrine neoplasia type 2A (MEN2A)
101. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
102. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC
103. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
104. Point mutation within the tyrosine kinase domain of the RET proto- oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours
105. Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B
106. The relationship between specific RET protooncogene mutations and disease phenotype in multiple endocrine neopiasia type 2. International RET mutation consortium analysis
107. Familial medullary thyroid carcinoma: Not a distinct entity? Genotype- phenotype correlation in a large family
108. A novel point mutation in the tyrosine kinase domain of the RET proto- oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC
109. A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma
110. Occurrence of MEN 2a in familial Hirschsprung's disease: A new indication for genetic testing of the RET proto-oncogene
111. C618R mutation in Exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease
112. Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): Mutation analysis in Japanese patients with MTC
113. Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation
114. Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis
115. Clinical use of molecular information in the management of multiple endocrine neoplasia type 2A
116. Application of genetic screening information to the management of medullary thyroid carcinoma and multiple endocrine neoplasia type 2
117. Unresolved issues in the genesis and management of multiple endocrine neoplasia type 2
118. A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A
119. A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A
120. Germline and somatic mutations of the RET protooncogene in apparently sporadic medullary thyroid carcinomas
121. RET mutations in exons 13 and 14 of FMTC patients
122. Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma
123. Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma
124. Progress in genetic screening of multiple endocrine neoplasia type 2A
125. Analysis of RET proto-oncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas
126. Somatic and MEN 2A de novo mutations identified in the RET proto- oncogene by screening of sporadic MTCs
127. Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation
128. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
129. Mutations of codon 918 in the RET proto-oncogene correlate to poor prognosis in sporadic medullary thyroid carcinomas
130. Novel point mutations and allele loss at the RET locus in sporadic medullary thyroid carcinomas
131. Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma
132. Molecular analysis of the RET proto-oncogene in patients with sporadic medullary thyroid carcinoma: A novel point mutation in the extracellular cysteine-rich domain
133. A complex nine base pair deletion in RET exon 11 common in sporadic medullary thyroid carcinoma
134. Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromo cytoma reveals involvement of these genes in only a minority of cases
135. Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprang disease
136. Mutations in the RET protooncogene in sporadic pheochromocytomas
137. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease
138. Chromosome 10 deletion in Hirschsprung's disease
139. Newborn mice lacking GDNF display renal agenesis and absence of enteric neurons, but no deficits in midbrain dopaminergic neurons
140. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor
141. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung's disease
142. Germline mutations in glial cell-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
143. Mutation of the endothelin receptor B gene in Waardenburg-Hirsch sprung disease
144. A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease
145. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
146. Endothelin 3 gene mutations in isolated and syndromic Hirschsprung disease
147. Mutations of the RET proto-oncogene in Hirschsprung's disease
148. Mutation of the endothelin-3 gene in the Waardenburg-Hirsch sprung disease (Shah-Waardenburg syndrome)
149. Mutations of RET proto-oncogene in Hirschsprung disease
150. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease
151. A homozygous mutation in the endothelin 3 gene associated with a combined Waar denburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syn drome)
152. Phenotypic variation in a family with mutations in two Hirschsprung- related genes (RET and endothelin receptor B)
153. Neural injury, repair, and adaptation in the GI tract. III. Role Of the RET signal transduction pathway in development of the mammalian enteric nervous system
154. Mutations of the RET-GDNF signaling pathway in Ondine's curse
155. Hirschsprung disease in MEN 2A: Increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation
156. RET mutations in multiple endocrine neoplasia type 2 and Hirschsprung disease
157. Mechanism of activation of the ret proto-oncogene bymultiple endocrine neoplasia 2A mutations
158. Characterization of ret oncogenic activation in MEN2 inherited cancer syndromes
159. Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B
160. Expression of multiple endocrine neoplasia 2B RET in neuroblastoma cells alters cell adhesion in vitro, enhances metastatic behavior in vivo, and activates Jun kinase
161. Ligand stimulation of a Ret chimeric receptor carrying the activating mutation responsible for the multiple endocrine neoplasia type 2B
162. Full activation of the MEN2B mutant ret by an additional MEN2A mutation or by ligand GDNF stimulation
163. Identification of tyrosine residues that are essential for transforming activity of the ret proto-oncogene with MEN 2A or MEN 2B mutation
164. The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype
165. Biological properties of Ret with cysteine mutations correlatewith multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype
166. The MAPK signaling cascade
167. How MAP kinases are regulated
168. RET alternate splicing influences the interaction of activated RET with the SH2 and PTB domains of Shc, and the SH2 domain of Grb2
169. Identification of Shc docking site on Ret tyrosine kinase
170. Identification of tyrosine residues that are essential for transforming activity of the ret proto-oncogene with MEN2A or MEN2B mutation
171. A mutation at tyrosine 1062 in MEN2A-Ret and MEN2B-Ret impairs their transforming activity and association with shc adaptor proteins
172. Characterization of Ret-Shc-Grb2 complex induced by GDNF, MEN 2A, and MEN 2B mutations
173. Signalling of RET receptor tyrosine kinase through the C-Jun NH2- terminal protein kinases (JNKS) - Evidence for a divergence of the erks and jnks pathways induced by RET
174. Von Hippel-Lindau disease
175. Identification of the von Hippel-Lindau disease tumor suppressor gene
176. Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
177. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype
178. Phenotypic expression in yon Hippel-Lindau disease: Correlations with germline VHL gene mutations
179. Somatic mutations of the yon Hippel Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma
180. Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma
181. Mutations in the RET proto-oncogene and the yon Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas
182. Inhibition of transcription elongation by the VHL tumor suppressor protein
183. Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C
184. Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2
185. The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins
186. Functions of the von Hippel-Lindau tumour suppressor protein
187. Rbx1, a component of the VHL tumor suppressor complex ans SCF ubiquitin ligase
188. The von Hippel-Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal
189. The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix
190. Von Recklinghausen neurofibromatosis
191. Neurofibromatosis: A common neurocutaneous disorder
192. The neurofibromatosis type 1 gene encodes a protein related to GAP
193. Physical mapping of a translocation breakpoint in neurofibromatosis
194. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins
195. The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21
196. The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae
197. A 90 kb DNA deletion associated with neurofibromatosis type 1
198. A de novo Alu insertion results in neurofibromatosis type 1
199. The complex of myxomas, spotty pigmentation, and endocrine overactivity
200. Primary pigmented nodular adrenocortical disease: Reevaluation of a patient with carney complex 27 years after unilateral adrenalectomy
201. Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine over-activity, and schwannomas (Carney complex)
202. Adrenocorticotropin-independent hypercortisolemia and testicular tumors in a patient with a pituitary tumor and gigantism
203. Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2
204. Identification of a novel genetic locus for familial cardiac myxomas and Carney complex
205. Evidence for genetic heterogeneity of the Carney complex (familial atrial myxoma syndromes)
206. Amplification of chromosome 2p15-p16 in tumors from patients with carney complex
207. Pathogenesis of medullary thyroid carcinoma