Results 171 to 180 of about 20,458 (226)

Multifocal micronodular pneumocyte hyperplasia in a patient with undiagnosed tuberous sclerosis: next-generation sequencing of a lung biopsy reveals TSC1 mutation-a case report. [PDF]

J Med Case Rep
Kornafeld A, Krencz I, Kipp BR, Burger CD, Stowell JT, Khoor A.   +5 more
europepmc   +1 more source

Identification of the TSC1 (tuberous sclerosis) gene

Biomedicine & Pharmacotherapy, 1998
openaire   +1 more source

TSC1 phosphorylation by lysosomal mTORC1 establishes a minimal autoregulatory feedback loop

Lamprakis A, Demetriades C.
europepmc   +1 more source

A rare early-onset bilateral renal cysts, focal seizures in a 1-year-old male with tuberous sclerosis and No mutation identified. [PDF]

Oxf Med Case Reports
Salahat D, Mujahed R, Jaber M, Tahayneh M, Khalifa N, Alnjoom Q, Sabra R, Doudin M, Sabra R, AbuAlrub I.   +9 more
europepmc   +1 more source

Early-Onset and Syndromic Pediatric Epilepsy in Kazakhstan: Clinical, Molecular, and Phenotypic Spectrum. [PDF]

J Clin Med
Bayanova M, Nazarova L, Zhakupov A, Malik D, Gabdulkayum A, Mirmanova Z, Satvaldina N, Rakhimova S, Akilzhanova A, Yerezhepov D, Bolatov A.   +10 more
europepmc   +1 more source

Transferable skills courses (TSC1-3)

Transferable skills courses (TSC1-3)
openaire   +1 more source

Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination. [PDF]

Nat Commun
Cheng HY, Liu C, Nien CW, Huang HC, Zhao HJ, Nian FS, Chen C, Custodio HM, Sisodiya SM, Lu C, Chen HH, Hsu CS, Pi WC, Chu CC, Hsu JS, Chen PL, Chang FP, Tung CY, Chou SJ, Alavi S, Houlden H, Chen WY, Liu YT, Hou PS, Tsai JW.   +24 more
europepmc   +1 more source

mTOR pathway mediates the endoplasmic reticulum stress -apoptosis of CD4+ T cell through inhibiting autophagy flux in sepsis. [PDF]

Inflamm Res
Lei X, Zhao G, Xie Y, Cui N.
europepmc   +1 more source

Regulating osteogenic differentiation of bone marrow mesenchymal stem cells by mTORC1 signaling pathway inhibits bone defect repair in mice. [PDF]

J Orthop Surg Res
Huang Z, Zhang Z, Yang C, Mai Q, Li R, Li S, Fan S, Yang J.   +7 more
europepmc   +1 more source