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Significados de tuberous sclerosis complex em inglês

russo
туберозный склероз
português
esclerose tuberosa
espanhol
esclerosis tuberosa
catalão
malaltia de pringle-bourneville
Wikidata

Rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs.

Termos relacionados
esclerose tuberosa
Wikidata

Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene)

Termos relacionados
Sinônimos
Examples for "tsc1"
Examples for "tsc1"
1
Tuberous sclerosis complex (TSC) is a genetic disease caused by a mutation in either the tsc1 or tsc2 tumor suppressor gene.
Pubmed
2
However, TSC1 also activates Rho and regulates cell adhesion.
Pubmed
3
In such families the linkage can be used and there is more TSC1 cases which are easily identifiable.
Pubmed
4
The disorder is caused by mutations affecting either of the tumor-suppressor genes, TSC1 and TSC2.
Pubmed
5
The Tuberous Sclerosis Complex component, TSC1, functions as a tumor suppressor via its regulation of diverse cellular processes, particularly cell growth.
Pubmed

A protein complex consisting of at least tumerin and hamartin; its formation may regulate hamartin homomultimer formation.

Termos relacionados
Uso de tuberous sclerosis complex em inglês
1
Background: Cardiac rhabdomyomas can be prenatally diagnosed in patients with tuberous sclerosis complex.
Pubmed
2
Novartis said Afinitor cuts seizures in phase III study in patients with tuberous sclerosis complex.
Reuters
3
Conclusions: Patients with tuberous sclerosis complex with reduced residual white matter were neurologically more severely affected.
Pubmed
4
Most patients with tuberous sclerosis complex (TSC) develop cortical tubers that cause severe neurological disabilities.
Pubmed
5
Subependymal giant cell astrocytoma (SEGA) is a rare tumor occurring almost exclusively in patients with tuberous sclerosis complex.
Pubmed
6
In general, sirolimus is an effective and safe therapy for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.
Pubmed
7
Recent studies have shown that sporadic and tuberous sclerosis complex-associated PEComa may respond to mTOR inhibitors underscoring the importance of recognizing this tumor.
Pubmed
8
All of the patients in the study had angiomyolipomas from tuberous sclerosis complex, a rare genetic disease, or lymphangioleiomyomatosis, a rare lung disease.
Reuters
9
Materials and methods: In this case-control study, 16 patients with tuberous sclerosis complex and 12 control subjects underwent DTI.
Pubmed
10
Purpose: We evaluate the efficacy and safety of sirolimus in the treatment of renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.
Pubmed
11
Tract-based spatial statistics revealed decreased FA and axial diffusivity of the cerebral white matter in the tuberous sclerosis complex group, suggesting reduced axonal integrity.
Pubmed
12
In the present study, we investigated CC outcomes among patients with drug-resistant epileptic spasms or tonic spasms associated with tuberous sclerosis complex (TSC).
Pubmed
13
Therefore, we tested structurally distinct IMPDH inhibitors in multiple cell and mouse tumor models of the genetic tumor syndrome tuberous sclerosis complex (TSC).
Pubmed
14
Genetic testing of a saliva sample was negative for tuberous sclerosis complex but positive for a novel mutation in the retinoblastoma gene (RB1).
Pubmed
15
The disease is caused by mutational inactivation of the tumor suppressor gene tuberous sclerosis complex 1 (TSC1) or TSC2.
Pubmed
16
The 16 patients were aged 28 to 60 (mean 49; median 50) years, and 1 had a history of tuberous sclerosis complex.
Pubmed