Sclérose tubéreuse de Bourneville : mise au point
| dc.rights.license | open | en_US |
| dc.contributor.author | PFIRMANN, P | |
| hal.structure.identifier | Bioingénierie tissulaire [BIOTIS] | |
| dc.contributor.author | COMBE, Christian
ORCID: 0000-0002-0360-573X IDREF: 58708871 | |
| hal.structure.identifier | Bioingénierie tissulaire [BIOTIS] | |
| dc.contributor.author | RIGOTHIER, Claire | |
| dc.date.accessioned | 2021-12-21T08:59:46Z | |
| dc.date.available | 2021-12-21T08:59:46Z | |
| dc.date.issued | 2021-10-01 | |
| dc.identifier.issn | 1768-3122 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/124239 | |
| dc.description.abstractEn | Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects different organs and caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. TSC1 or TSC2 gene mutation lead to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular proliferation. These proteins form a complex that constitutively inhibits the mammalian target of rapamycin (mTOR) signaling pathway, leading to permanent activation of mTOR signaling within all TSC-associated lesions. Major features of TSC include tumors of the brain, skin, heart, lungs and kidneys, seizures and TSC-associated neuropsychiatric disorders, which can include autism spectrum disorder and cognitive disability. These disorders are usually diagnosed in children and adults. Specific guidelines for diagnosis, surveillance, and management have been proposed by the International Tuberous Sclerosis Complex Consensus Group. Several randomized controlled trials led to regulatory approval of the use of mTOR inhibitors for the treatment of renal angiomyolipomas, brain subependymal giant cell astrocytomas, refractory epilepsy and pulmonary lymphangioleiomyomatosis. | |
| dc.language.iso | EN | en_US |
| dc.subject.en | Autism Spectrum Disorder | |
| dc.subject.en | Humans | |
| dc.subject.en | Lymphangioleiomyomatosis | |
| dc.subject.en | Tuberous Sclerosis | |
| dc.subject.en | Tuberous Sclerosis Complex 2 Protein | |
| dc.subject.en | Tumor Suppressor Proteins | |
| dc.title | Sclérose tubéreuse de Bourneville : mise au point | |
| dc.title.en | Tuberous sclerosis complex: A review | |
| dc.title.alternative | Rev Med Interne | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1016/j.revmed.2021.03.003 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Biotechnologies | en_US |
| dc.identifier.pubmed | 33836894 | en_US |
| bordeaux.journal | La Revue De Médecine Interne | en_US |
| bordeaux.page | 714-721 | en_US |
| bordeaux.volume | 42 | en_US |
| bordeaux.hal.laboratories | Bioingénierie Tissulaire (BioTis) - UMR_S 1026 | en_US |
| bordeaux.issue | 10 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | CNRS | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.institution | CHU de Bordeaux | en_US |
| bordeaux.institution | Institut Bergonié | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| bordeaux.import.source | pubmed | |
| hal.identifier | hal-03498628 | |
| hal.version | 1 | |
| hal.date.transferred | 2021-12-21T08:59:47Z | |
| hal.export | true | |
| workflow.import.source | pubmed | |
| dc.rights.cc | Pas de Licence CC | en_US |
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