Neuropathology of tuberous sclerosis

Brain and Development

Volumn 23, Issue 7, 2001, Pages 508-515

  Mizuguchi, Masashi ^a   Takashima, Sachio ^b  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Cortical tuber; Eker rat; Hamartin; Immunohistochemistry; Subependymal giant cell astrocytoma; Tuberin

Indexed keywords

ANTICONVULSIVE AGENT; CALBINDIN; CORTICOTROPIN; GLIAL FIBRILLARY ACIDIC PROTEIN; HAMARTIN; NEUROFILAMENT PROTEIN; PROTEIN S 100; SYNAPTOPHYSIN; TUBERIN;

ANIMAL MODEL; ASTROCYTOMA CELL; AUTISM; BRAIN CORTEX; BRAIN INJURY; BRAIN REGION; CELL DIFFERENTIATION; CONFERENCE PAPER; DISEASE COURSE; GIANT CELL; HAMARTOMA; HISTOLOGY; HUMAN; IMMUNOPATHOLOGY; MENTAL DEFICIENCY; MISSENSE MUTATION; NEUROPATHOLOGY; NONHUMAN; PROTEIN EXPRESSION; RAT; TUBEROUS SCLEROSIS; WEST SYNDROME;

ANIMALS; ASTROCYTOMA; BRAIN; CHILD; FATAL OUTCOME; FEMALE; HAMARTOMA; HUMANS; TUBEROUS SCLEROSIS;

EID: 0034778130     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(01)00304-7     Document Type: Conference Paper

References (47)

1. Evidence that the gene for tuberous sclerosis is on chromosome 9
2. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
3. Identification and characterization of the tuberous sclerosis gene on chromosome 16
4. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
5. Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis
6. Tuberin immunohistochemistry in brain, kidneys and heart with or without tuberous sclerosis
7. Expression of the TSC2 product tuberin and its target Rap1 in normal human tissues
8. The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas
9. Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis
10. Autistic behavior and attention deficits in tuberous sclerosis: a population-based study
11. Natural history of cerebral tuberous sclerosis
12. The pathology of tuberous sclerosis
13. Pathology of tuberous sclerosis. Neuropathologic aspects
14. Neurological aspects of tuberous sclerosis
15. Definition and criteria for diagnosis
16. 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene
17. The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor
18. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients
19. Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions
20. Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma
21. Giant cells in cortical tubers in tuberous sclerosis showing synaptophysin-immunoreactive halos
22. Central nervous system pathology of tuberous sclerosis in children
23. Evidence of abnormal differentiation in giant cells of tuberous sclerosis
24. The TSC1 tumor suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho
25. Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity
26. The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis
27. Role of tuberous sclerosis gene-2 product in cell cycle control. Loss of the tuberous sclerosis gene-2 induces quiescent cells to enter G phase
28. A role of the tuberous sclerosis gene-2 product during neuronal differentiation
29. Two loci for tuberous sclerosis: one on 9q34 and one on 16p13
30. Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles
31. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
32. Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperon for hamartin
33. Co-localization of TSC1 and TSC2 gene products in tubers of patients with tuberous sclerosis
34. HMB-45 and tuberin in hamartomas associated with tuberous sclerosis
35. Loss of the TSC2 product tuberin in subependymal giant-cell tumors
36. The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas
37. Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis
38. Tissue and cell-type specific expression of the tuberous sclerosis gene, TSC2, in human tissues
39. Comprehensive mutational analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis
40. Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex
41. Phenotypic variation of tuberous sclerosis in a single extended kindred
42. Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice
43. Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background
44. A dominant gene for renal adenomas in the rat
45. A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer
46. Subependymal astrocytic hamartoma in the Eker rat model of tuberous sclerosis
47. Novel cerebral lesions in the Eker rat model of tuberous sclerosis: cortical tuber and anaplastic ganglioglioma