The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis

Improved tools for biological sequence comparison.

1988 • 11,455 citations

Proteins regulating Ras and its relatives

1993 • 1,930 citations

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1993 • 1,617 citations

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

1994 • 492 citations

Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype

1994 • 386 citations

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

1994 • 362 citations

Identification of Tuberin, the Tuberous Sclerosis-2 Product. TUBERIN POSSESSES SPECIFIC Rap1GAP ACTIVITY

1995 • 361 citations

The Tuberous Sclerosis 2 Gene Product, Tuberin, Functions as a Rab5 GTPase Activating Protein (GAP) in Modulating Endocytosis

1997 • 353 citations

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.

1996 • 312 citations

Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13

1994 • 264 citations

Molecular cloning of a GTPase activating protein specific for the Krev-1 protein p21rap1

1991 • 245 citations

Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association

1992 • 224 citations

Genetic aspects of tuberous sclerosis in the west of Scotland.

1989 • 222 citations

Loss of heterozygosity in tuberous sclerosis hamartomas.

1996 • 163 citations

Tuberous sclerosis (2nd ed.)

1989 • 89 citations

Novel Mutations Detected in the TSC2 Hene From Both Sporadic and Familial TSC Patients

1996 • 82 citations

Comparative Analysis and Genomic Structure of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Pufferfish

1996 • 70 citations

Phenotypic variation of tuberous sclerosis in a single extended kindred.

1994 • 49 citations

cDNA structure, alternative splicing and exon—intron organization of the predisposing tuberous scelerosis (Tsc2) gene of the Eker rat model

1995 • 40 citations

A de novo frame-shift mutation in the tuberin gene

1995 • 36 citations

Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16

1997 • 34 citations

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

1996 • 33 citations

Mutation analysis of the TSC2 gene in an African-American family

1995 • 28 citations

Expression and differential splicing of the mouse TSC2 homolog

1996 • 22 citations

Diagnostic Criteria: Tuberous Sclerosis Complex

1992 • 17 citations

A novel splice site mutation (156 + 1G→A) in theTSC2 gene

1997 • 10 citations