|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex is a genetic disorder caused by mutations in either the TSC1 or TSC2 gene that can result in the growth of hamartomas in multiple organ systems.
|
24105488 |
2014 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in the TSC1 or TSC2 genes and is frequently associated with hamartoma formation in multiple organ systems.
|
24737435 |
2014 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder characterized by hamartomas in multiple organs and is caused by a wide spectrum of mutations in 1 of 2 causative genes (TSC1 or TSC2).
|
23661441 |
2013 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in genes encoding either hamartin [TSC1 (tuberous sclerosis complex 1)] or tuberin (TSC2) result in a multisystem disorder characterized by the development of benign tumours and hamartomas in several organs.
|
21428921 |
2011 |
|
Hamartoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A purported mechanism of hamartomatous proliferation in TSC is constitutive activation of the mammalian target of rapamycin (mTOR) signaling pathway dysregulated by a functional loss of TSC genes.
|
20526286 |
2010 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems.
|
20146692 |
2010 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC), a tumor syndrome caused by mutations in TSC1 or TSC2 genes, is characterized by the development of hamartomas.
|
18958173 |
2008 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either the TSC1 or the TSC2 genes and characterized by the development of benign hamartomatous growths in multiple organ systems.
|
15888477 |
2005 |
|
Hamartoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
How mTOR dysregulation after inactivation of LKB1 or TSC1/2 contributes to hamartoma development is not known.
|
15261137 |
2004 |
|
Hamartoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
By comparing the incidence of the hamartomas in early childhood and gene expression in tissues, it appears that tissues with co-expression of hamartin and tuberin are prone to a higher incidence of hamartomas than those expressing only one protein, or two proteins but in different patterns of cellular localization.
|
12202993 |
2003 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inactivation of both alleles at TSC1 or TSC2 loci is associated with the development of hamartomas in different organs, and only rarely with malignant neoplasms.
|
14508401 |
2003 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Concordant with the tumor-suppressor model, loss of heterozygosity (LOH) is known to occur in these hamartomas at loci of both TSC1 and TSC2.
|
11468687 |
2001 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TS) is characterized by the development of hamartomas in various organs and is caused by a germ-line mutation in either TSC1 or TSC2 tumor suppressor genes.
|
11438694 |
2001 |
|
Hamartoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Tuberous sclerosis (TSC [MIM 191090 and MIM 191100]) is an autosomal dominant disorder characterized by hamartomas in many organs.
|
10205261 |
1999 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The recently reported loss of heterozygosity (LOH) at the regions of the TSC1 or TSC2 locus in hamartomas obtained from different organs of patients with established tuberous sclerosis, including cortical tubers, stimulated us to examine epilepsy-associated tuberous sclerosis-like glioneuronal malformations with respect to LOH at the TSC1 and TSC2 loci of chromosomes 9q34 and 16p 13.3, respectively.
|
9006662 |
1997 |
|
Hamartoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The tuberous sclerosis 2 (TSC2) gene is thought to function as a growth suppressor in sporadic and TSC-associated hamartomas and tumors.
|
9210877 |
1997 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have previously described in tuberous sclerosis (TSC) hamartomas the phenomenon of loss of heterozygosity (LOH) for DNA markers in the region of both the TSC2 gene on chromosome 16p13.3 and the TSC1 gene on 9q34.
|
8950679 |
1996 |
|
Hamartoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas.
|
8824721 |
1996 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A proportion of hamartomas from patients with TSC show loss of heterozygosity (LOH) for DNA markers in the region of either the TSC1 gene on chromosome 9q34 or the TSC2 gene on 16p13.3.
|
8566961 |
1996 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mapping of allele loss in hamartomas may help in the refinement of the location of the TSC1 locus.
|
7849709 |
1994 |
|
Hamartoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data support the hypothesis of both a germline and somatic loss-of-function mutation for the development of tuberous sclerosis hamartomas and suggest a tumor-suppressor-like activity also for the TSC1 gene product.
|
7849708 |
1994 |
|
Hamartoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of TSC-associated hamartomas has shown loss of heterozygosity for the regions of chromosomes 9 and 16 known to harbour TSC genes, consistent with the occurrence of somatic 'second-hit' mutations.
|
7849741 |
1994 |