TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex

Molecular cloning: A laboratory manual

1990 • 85,659 citations

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1993 • 1,617 citations

Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

1997 • 1,613 citations

Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

2001 • 947 citations

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

1998 • 566 citations

The Drosophila Tuberous Sclerosis Complex Gene Homologs Restrict Cell Growth and Cell Proliferation

2001 • 542 citations

Drosophila Tsc1 Functions with Tsc2 to Antagonize Insulin Signaling in Regulating Cell Growth, Cell Proliferation, and Organ Size

2001 • 511 citations

Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis

1999 • 501 citations

TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth

2001 • 449 citations

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients

1994 • 362 citations

Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene.

1994 • 305 citations

The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination

2000 • 257 citations

Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles.

1998 • 247 citations

Characterization of the Cytosolic Tuberin-Hamartin Complex

1999 • 182 citations

Analysis of bothTSC1 andTSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

1999 • 155 citations

Superiority of Denaturing High Performance Liquid Chromatography over single‐stranded conformation and conformation‐sensitive gel electrophoresis for mutation detection in TSC2

1999 • 126 citations

Tuberin Phosphorylation Regulates Its Interaction with Hamartin

2001 • 92 citations

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

1999 • 41 citations

Tuberous sclerosis complex: Developmental perspectives in psychiatry

2000 • 23 citations

Mutation and polymorphism analysis in the tuberous sclerosis 2 ( TSC2 ) gene

1998 • 17 citations