Tuberous sclerosis complex genes: From flies to human genetics

Archives of Dermatological Research

Volumn 293, Issue 8, 2001, Pages 383-386

  Hengstschlager M ^a  

^a UNIVERSITY OF VIENNA   (Austria)

Author keywords

Cell cycle; Cell size; Hamartin; TSC1; TSC2; Tuberin; Tuberous sclerosis

Indexed keywords

EZRIN; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; HAMARTIN; MOESIN; RADIXIN; TUBERIN;

AUTOSOMAL RECESSIVE DISORDER; BRAIN; CELL CYCLE; CELL CYCLE G1 PHASE; CELL CYCLE S PHASE; CELL PROLIFERATION; CELL SIZE; CLINICAL FEATURE; EPILEPSY; FACE MALFORMATION; GENE; GENE DELETION; GENE MUTATION; GENETIC REGULATION; GENETICS; HAMARTOMA; HEART; HUMAN; KIDNEY; MENTAL DEFICIENCY; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; REVIEW; SKIN; STOP CODON; TISSUE DISTRIBUTION; TUBEROUS SCLEROSIS;

ANIMALS; CELL CYCLE; CELL DIVISION; CELL SIZE; DROSOPHILA; HUMANS; PROTEINS; REPRESSOR PROTEINS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0034795747     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004030100250     Document Type: Review

References (50)

1. Induction of cyclin E-cdk2 kinase activity. E2F-dependent transcription and cell growth by Myc are genetically separable events
2. The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting ubiquitination
3. Molecular genetic advances in tuberous sclerosis
4. Identification and characterization of the tuberous sclerosis gene on chromosome 16
5. TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth
6. The hallmarks of cancer
7. Cyclin-dependent kinases at the G1-S transition of the mammalian cell cycle
8. Tuberous sclerosis gene 2 product modulates transcription mediated by steroid hormone receptor family members
9. c-Myc enhances protein synthesis and cell size during B lymphocyte development
10. Gigas, a Drosophila homolog of tuberous sclerosis gene product-2, regulates the cell cycle
11. Redefined localization of TSC1 by combined analysis of 9q34 and 16p34 data on 14 tuberous sclerosis families
12. Suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (Tsc2) gene and its C-terminal region
13. Tuberin-dependent membrane localization of polycystin-1: A functional link between polycystic kidney disease and the TSC2 tumour suppressor gene
14. A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer
15. Report on the Second International Workshop on Human Chromosome 9
16. The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho
17. Mutation screening of the entire coding region of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects
18. The TSC1 gene product, hamartin, negatively regulates cell proliferation
19. Viewpoint: Putting the cell cycle in order
20. Characterization of the cytosolic tuberin-hamartin complex: Tuberin is a cytosolic chaperone for hamartin
21. Genetic control of cell size at cell division in yeast
22. Suppression of the neoplastic phenotype by replacement of the Tsc2 gene in Eker rat renal carcinoma cells
23. Epidemiology of tuberous sclerosis
24. A restriction point for control of normal animal proliferation
25. The restriction point and control of cell proliferation
26. Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localised to cytoplasmic vesicles
27. Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size
28. Two loci for tuberous sclerosis: One on 9q34 and one on 16p13
29. Growth regulation by oncogenes - New insights from model organisms
30. Activation of c-Myc uncouples DNA replication from activation of G1-cyclin-dependent kinases
31. Size control: The regulation of cell numbers in animal development
32. Dermatological manifestations
33. The molecular genetics of tuberous sclerosis
34. Linkage investigation of three putative tuberous sclerosis determining 1 loci on chromosome 9q, 11q and 12q
35. Control of cell growth by c-Myc in the absence of cell division
36. Role of tuberous sclerosis gene-2 product in cell cycle control
37. A role for the tuberous sclerosis gene-2 product during neuronal differentiation
38. Inactivation of the cyclin-dependent kinase inhibitor p27 upon loss of the tuberous sclerosis complex gene-2
39. Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression
40. Genetic control of cell size
41. The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation
42. Presence of potent transcriptional activation domains in the predisposing tuberous sclerosis (Tsc2) gene product of the Eker rat model
43. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
44. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
45. Identification of tuberin, the tuberous sclerosis-2 product - Tuberin possesses specific rap1GAP activity
46. The tuberous sclerosis 2 gene product, tuberin, functions as a rab5 GTPase activating protein (GAP) in modulating endocytosis
47. Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene
48. The genetic basis of tuberous sclerosis
49. What is the restriction point?