Results 181 to 190 of about 40,807 (310)

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients [PDF]

, 2001
Miriam Goedbloed, Mark Nellist, Brenda Verhaaf, Arnold Reuser, Dick Lindhout, Lone Sunde, Senno Verhoef, Dicky Halley, A M van den Ouweland   +8 more
openalex   +1 more source

TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival

Cell, 2003
K. Inoki, Tianqing Zhu, K. Guan
semanticscholar   +1 more source

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

Genetics in Medicine, 2020
B. Ogorek, L. Hamieh, H. Hulshof, Kathryn D. Lasseter, K. Klonowska, Hugo Kuijf, R. Moavero, C. Hertzberg, B. Weschke, Kate Riney, M. Feucht, T. Scholl, P. Krsek, R. Nabbout, A. Jansen, Barbora Benova, E. Aronica, L. Lagae, P. Curatolo, J. Borkowska, K. Sadowski, D. Domanska-Pakiela, Stef G. Janson, P. Kozłowski, Malgorzata Urbanska, J. Jaworski, S. Jóźwiak, F. Jansen, K. Kotulska, D. Kwiatkowski   +29 more
semanticscholar   +1 more source

Comment on ‘Ablation of LAT2 Transporter Causes Intramuscular Glutamine Accumulation and Inhibition of Fasting‐Induced Proteolysis’ by Espino‐Guarch et al.

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 4, August 2025.
Jinglin Li, Jiachen Peng
wiley   +1 more source

Tuberous Sclerosis Complex: mutations, functions and phenotypes [PDF]

, 2005
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in multiple organs and tissues. TSC is caused by mutations in either the TSC1 or TSC2 gene.
Sancak, O. (Ozgur)
core   +1 more source

Abnormal Neural Progenitor Cells Differentiated from Induced Pluripotent Stem Cells Partially Mimicked Development of TSC2 Neurological Abnormalities

Stem Cell Reports, 2017
Summary: Tuberous sclerosis complex (TSC) is a disease featuring devastating and therapeutically challenging neurological abnormalities. However, there is a lack of specific neural progenitor cell models for TSC.
Yaqin Li, Jiqing Cao, Menglong Chen, Jing Li, Yiming Sun, Yu Zhang, Yuling Zhu, Liang Wang, Cheng Zhang   +8 more
doaj  

Multifocal Micronodular Pneumocyte Hyperplasia and Lymphangioleiomyomatosis in Tuberous Sclerosis with a TSC2 Gene [PDF]

, 2001
Hiroshi Maruyama, Kuniaki Seyama, J Sobajima, Kazumichi Kitamura, Tooru Sobajima, Tomokazu Fukuda, Kaoru Hamada, Masahiro Tsutsumi, Okio Hino, Yoichi Konishi   +9 more
openalex   +1 more source

Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis [PDF]

, 2002
Taizo Sato, Kuniaki Seyama, Hiroaki Fujii, Hirofumi Maruyama, Yasuhiro Setoguchi, Shin‐ichiro Iwakami, Yoshinosuke Fukuchi, Okio Hino   +7 more
openalex   +1 more source

Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene.

, 1994
Raymond S. Yeung, G H Xiao, Fuzi Jin, W C Lee, Joseph R. Testa, Alfred G. Knudson   +5 more
openalex   +1 more source

Quantitative RT-PCR reveals tuberous sclerosis gene, TSC2, mRNA degradation following cryopreservation in the human preimplantation embryo [PDF]

, 2003
Maria Tachataki
openalex   +1 more source