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Meanings of tuberous sclerosis complex in inglés

ruso
туберозный склероз
portugués
esclerose tuberosa
español
esclerosis tuberosa
catalán
malaltia de pringle-bourneville
Wikidata

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

      Related terms
      esclerosis tuberosa
      Wikidata

      Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene)

            Related terms

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

                  Related terms
                  Synonyms
                  Examples for "tsc1-tsc2 complex"
                  Examples for "tsc1-tsc2 complex"
                  1
                  This study suggests that an increase in the steady state level of resident TSC1-TSC2 complex is sufficient to reduce muscle mass and cause atrophy.
                  Pubmed
                  Usage of tuberous sclerosis complex in inglés
                  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