How many pathways to pheochromocytoma?

Seminars in Nephrology

Volumn 22, Issue 2, 2002, Pages 89-99

  Neumann, Hartmut P H ^a,b   Hoegerle, Stefan ^a,b   Manz, Tanja ^a,b   Brenner, Keith ^a,b   Iliopoulos, Othon ^a,b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b MASSACHUSETTS GENERAL HOSPITAL CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; DISEASE ASSOCIATION; FAMILIAL INCIDENCE; GENETIC SCREENING; HUMAN; MULTIPLE ENDOCRINE NEOPLASIA; PATHOGENESIS; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; REVIEW; VON HIPPEL LINDAU DISEASE;

EID: 0036118172     PISSN: 02709295     EISSN: None     Source Type: Journal    
DOI: 10.1053/snep.2002.30207     Document Type: Review

References (105)

1. Paraganglien
2. Carotid body chemoreceptors: From natural stimuli to sensory zdischarges
3. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Landau disease
4. Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2
5. 18Fluoro DOPA whole-body positron emission tomography for detection of pheochromocytomas: Initial results
6. Multiple endocrine neoplasia type 2: Clinical aspects
7. Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease
8. A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10
9. Assignment of multiple endocrine neoplasia type 2A on chromosome 10
10. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
11. Multiple endocrine neoplasia type 2: Molecular aspects
12. Expression of the c-ret proto-oncogene during mouse embryogenesis
13. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
14. Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains
15. The Ret receptor protein tyrosine kinase associates with the SH2-containing adapter protein Grb 10
16. The oncogenic versions of the Ret and Trk tyrosine kinases bind Shc and Grb2 adaptor proteins
17. The full oncogenic activity of Ret/ptc2 depends on tyrosine 539, a docking site for phospholipase C gamma
18. Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia type 2
19. Von Hippel-Lindau syndrome
20. Von Hippel-Lindau Disease
21. Renal cysts, renal cancer and von Hippel-Lindau disease
22. VHL disease: Genetic and clinical observations
23. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
24. Identification of the von Hippel-Lindau disease tumor suppressor gene
25. Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe
26. Germline mutations in the von Hippel-Lindau (VHL) gene in families from North America, Europe, and Japan
27. Genotype-phenotype correlations in von Hippel-Lindau disease
28. Mutations of the VHL tumour suppressor gene in renal carcinoma
29. Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas
30. Somatic mutations of the von Hippel-Lindau tumor supressor gene in sporadic central nervous systems hemangioblastomas
31. Loss of heterozygosity and somatic mutations of the VHL tumor suppressor gene in sporadic cerebellar hemangioblastomas
32. Von Hippel-Lindau gene deletion detected in the stromal cell component of a cerebellar hemangioblastoma associated with von Hippel-Lindau disease
33. Allelic deletion and mutation of the von Hippel-Lindau tumor suppressor gene in pancreatic microcystic adenomas
34. Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma
35. Allelic deletions of the VHL gene detected in multiple microscopic clear cell renal lesions in von Hippel-Lindau disease patients
36. A microscopic dissection technique for archival DNA analysis of specific cell populations in lesions <1 mm in size
37. Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein
38. Post-transcriptional regulation of vascular endothelial growth factor mRNA by the VHL tumor suppressor gene product
39. Genotype-phenotype correlation in von Hippel-Lindau disease: Identification of a mutation associated with VHL type 2A
40. Phenotypic expression in von Hippel-Lindau disease: Correlations with germline VHL gene mutations
41. Identification of intragenic mutations in the von Hippel-Lindau disease tumor suppressor gene and correlation with disease phenotype
42. Structure of the VHL-ElonginC-ElonginB complex: Implications for VHL tumor suppressor function
43. Functioning thoracic paraganglioma: Association with von Hippel-Lindau syndrome
44. Carotid body paraganglioma in von Hippel-Lindau disease: A rare association
45. Pheochromocytoma as the first manifestation of von Hippel-Lindau disease
46. Pheochromocytoma associated with a de novo VHL mutation as forme fruste of the von Hippel-Lindau disease
47. Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas
48. pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation
49. A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor
50. Transcription-dependent nuclear-cytoplasmic trafficking is required for the function of the von Hippel-Lindau tumor suppressor protein
51. Inhibition of transcriptional elongation by the VHL tumor suppressor protein
52. Binding of the von Hippel-Lindau tumor suppressor protein to elongin B and C
53. Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau protein requires binding to complexex containing elongins B/C and Cu12
54. SCF and Cullin/RING H2-based ubiquitin ligases
55. The von Hippel-Lindau tumor suppressor protein is a component of an E3 ubiquitin-protein ligase activity
56. The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
57. Regulation of mammalian O2 homeostasis by hypoxia-inducible factor 1
58. Regulation of hypoxia-inducible factor 1a is mediated by an O2-dependent degradation domain via the ubiquitin-proteasome pathway
59. Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein
60. HIF1a targeted for VHL-mediated destruction by proline hydroxylation: Implications for oxygen sensing
61. Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation
62. C. Elegans EGL-0 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation
63. Frequent overexpression of vascular endothelial growth factor gene in human renal cell carcinoma
64. Markedly increased amounts of messenger RNAs for vascular endothelial growth factor and placenta growth factor in renal cell carcinoma associated with angiogenesis
65. Up-regulation of vascular endothelial growth factor and its receptors in von Hippel-Lindau disease-associated and sporadic hemangioblastomas
66. Von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF
67. Contrasting effects on HIF1a regulation by disease-causing pVHL mutations correlate with patterns of tumorigenesis in von Hippel-Lindau disease
68. Identification of novel hypoxia dependent and independent target genes of the von Hippel-Lindau (VHL) tumor suppressor by mRNA differential expression profiling
69. Von Recklinghausen neurofibromatosis
70. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
71. Type I neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients
72. Neurofibromatosis and childhood leukemia
73. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17
74. Dominant genes and phakomatoses
75. Distribution of 13 truncating mutations in the neurofibromatosis 1 gene
76. Neurofibromatosis type 1 (NF1): A protein truncation assay yielding identification of mutations in 73% of patients
77. Molecular genetic analysis of tumors in von Recklinghausen neurofibromatosis: Loss of heterozygosity for chromosome 17
78. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene
79. Identification of NF1 mutations in both alleles of a dermal neurofibroma
80. Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis
81. Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders
82. Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis
83. Neurofibromatoses
84. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins
85. The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae
86. The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21
87. Catalytic domain of the p120 Ras GAP binds to RAb5 and stimulates its GTPase activity
88. Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families
89. Mutations in SDHDa mitochondrial complex II gene, in hereditary paraganglioma
90. Mutations in SDHC cause autosomal dominant paraganglioma, type 3
91. Germline SDHD mutation in familial phaeochromocytoma
92. Mutations in the mitochondrial complex II subunit SDHB cause susceptibility to familial pheochromocytoma and paraganglioma
93. Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma
94. Sporadic and familial pheochromocytomas are associated with loss of at least two discrete intervals on chromosome 1p
95. Somatic mosaicism in von Hippel-Lindau disease
96. Mosaicism in von Hippel-Lindau disease: Lessons from kindreds with germline mutations identified in offspring with mosaic parents
97. Adrenal sparing surgery for phaeochromocytoma
98. Laparoscopic adrenalectomy in Cushing's syndrome and pheochromocytoma
99. Laparoscopic surgery for pheochromocytoma: Adrenalectomy, partial resection, excision of paraganglioma
100. Preserved adrenocortical function after laparoscopic bilateral adrenal sparing surgery for hereditary pheochromocytoma
101. Factors associated with perioperative morbidity and mortality in patients with pheochromocytoma: Analysis of 165 operations at a single center
102. Malignant pheochromocytoma: Effective treatment with a combination of cyclophosphamide, vincristin and dacarbacin
103. Current concepts of pheochromocytoma
104. Pheochromocytoma: A clinical overview