Results 111 to 120 of about 20,510 (176)

Nonpenetrant familial TSC2 gene-related disorder due to atypical TSC2 mutation

Research, 2015
J Fox, S Ben-Shachar, S Oliel, A Fattal-Valevski   +3 more
openaire   +1 more source

TSC2 Gene Mutation [PDF]

, 2020
openaire   +1 more source

Hyperbaric oxygen relieves neuropathic pain through AKT/TSC2/mTOR pathway activity to induce autophagy

Journal of Pain Research, 2019
Yong-Da Liu,1 Zhi-Bin Wang,1 Guang Han,1 Li Jin,2 Ping Zhao1 1Department of Anesthesiology and Pain Management, Shengjing Hospital of China Medical University, Shenyang 110004, China; 2Department of Orthopaedic Surgery, University of Virginia ...
Liu Y, Wang Z, Han G, Jin L, Zhao P
doaj  

TSC2 Gene Rearrangement [PDF]

, 2020
openaire   +1 more source

Immunohistochemical Diagnostic Algorithm for Renal Cell Carcinoma with Fibromyomatous Stroma

Bezmiâlem Science
Busra YAPRAK BAYRAK, Mahmut AKGUL
doaj   +1 more source

Síndrome de genes contiguos TSC2 / PKD1

Nefrología, 2017
Cammarata-Scalisi, Francisco, Vidales Moreno, Concha, Zara-Chirinos, Carmen, Bracho, Ana, Pérez, Diomar   +4 more
openaire   +4 more sources

<i>TSC2</i> GAP Domain V1646Cfs*7 Variant Alters Protein Stability and Interaction Networks in Tuberous Sclerosis Complex. [PDF]

Neurol Genet
Utami KH, Han VX, Mohammad Yusof NAB, Ramaswamy Y, Feng J, Tay SKH, Langley SR, Pouladi MA.   +7 more
europepmc   +1 more source

Case Report: mTOR inhibitor treatment for epithelioid angiomyolipoma harboring biallelic <i>TSC2</i> mutations. [PDF]

Front Oncol
Ishikawa S, Ouchi K, Wakayama S, Kasahara Y, Komine K, Imai H, Saijo K, Yamazaki Y, Takahashi M, Shirota H, Kawakami H.   +10 more
europepmc   +1 more source

Late diagnosis and effective everolimus treatment in a familial case of tuberous sclerosis complex: a case report. [PDF]

Front Genet
Dai F, Duan Y, Di BA, Feng Q, Cui J, Lv T.   +5 more
europepmc   +1 more source

Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome. [PDF]

Front Pediatr
Akiba T, Shimada S, Ikegami M, Nishizaki N, Hashizume A, Nozaki T, Nagashima Y, Tsujimura A, Nakazawa-Tanaka N, Miyano G, Takahashi K, Shoji H.   +11 more
europepmc   +1 more source