Results 151 to 160 of about 40,807 (310)

Exome sequencing of Saudi Arabian patients with ADPKD

Renal Failure, 2019
Purpose: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts and enlargement and dysfunction of the kidneys. The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP)
Fahad A. Al-Muhanna, Abdullah M. Al-Rubaish, Chittibabu Vatte, Shamim Shaikh Mohiuddin, Cyril Cyrus, Arafat Ahmad, Mohammed Shakil Akhtar, Mohammad Ahmad Albezra, Rudaynah A. Alali, Afnan F. Almuhanna, Kai Huang, Lusheng Wang, Feras Al-Kuwaiti, Tamer S. Ahmed Elsalamouni, Abdullah Al Hwiesh, Xiaoyan Huang, Brendan Keating, Jiankang Li, Matthew B. Lanktree, Amein K. Al-Ali   +19 more
doaj   +1 more source

TSC2-deficient tumors have evidence of T cell exhaustion and respond to anti-PD-1/anti-CTLA-4 immunotherapy.

JCI Insight, 2018
Tuberous sclerosis complex (TSC) is an incurable multisystem disease characterized by mTORC1-hyperactive tumors. TSC1/2 mutations also occur in other neoplastic disorders, including lymphangioleiomyomatosis (LAM) and bladder cancer.
Heng-Jia Liu, P. Lizotte, H. Du, M. Speranza, H. Lam, Spencer Vaughan, N. Alesi, Kwok-kin Wong, G. Freeman, A. Sharpe, E. Henske   +10 more
semanticscholar   +1 more source

Nationwide Genomic Data Analysis of Japanese Prostate Cancer Patients From C‐CAT Database

Cancer Medicine, Volume 14, Issue 15, August 2025.
This study analyzed genomic data from 2634 Japanese patients with advanced prostate cancer using the C‐CAT database, revealing frequent alterations in genes such as TP53, BRCA2, and AR. Key mutations, particularly in TP53 and pathways like PI3K and MYC signaling, were linked to poorer survival, underscoring the importance of population‐specific genomic
Shigehiro Tsukahara, Masaki Shiota, Shohei Nagakawa, Tokiyoshi Tanegashima, Satoshi Kobayashi, Takashi Matsumoto, Masatoshi Eto   +6 more
wiley   +1 more source

Dexmedetomidine Protects Against Oxygen–Glucose Deprivation-Induced Injury Through Inducing Astrocytes Autophagy via TSC2/mTOR Pathway

Neuromolecular medicine, 2019
Although there is an increment in stroke burden in the world, stroke therapeutic strategies are still extremely limited to a minority of patients.
Chen Zhu, Quan Zhou, Cong Luo, Ying Chen
semanticscholar   +1 more source

Real‐World Data of Comprehensive Cancer Genomic Profiling Tests Performed in the Routine Clinical Setting in Sarcoma

Cancer Medicine, Volume 14, Issue 15, August 2025.
ABSTRACT Introduction Next‐generation sequencing‐based comprehensive cancer genomic profiling (CGP) tests are beneficial for refining diagnosis and personalized treatment of various cancers. However, the clinical impact of CGP, as covered by public health insurance in the management of sarcomas, remains unknown.
Eiji Nakata, Daisuke Ennishi, Tatsunori Osone, Kiichiro Ninomiya, Shuta Tomida, Takuto Itano, Tomohiro Fujiwara, Toshiyuki Kunisada, Naoyuki Ida, Hideki Yamamoto, Mashu Futagawa, Tatsunori Shimoi, Hiroyuki Yanai, Akira Hirasawa, Shinichi Toyooka, Masahiro Tabata, Toshifumi Ozaki   +16 more
wiley   +1 more source

Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis [PDF]

, 1999
Alistair C. Jones, Magitha M. Shyamsundar, Meinir W. Thomas, Julie Maynard, Shelley Idziaszczyk, Susan Tomkins, Julian R. Sampson, Jeremy P. Cheadle   +7 more
openalex   +1 more source

Electroacupuncture Upregulated Ghrelin in Rats with Functional Dyspepsia via AMPK/TSC2/Rheb-Mediated mTOR Inhibition

Digestive Diseases and Sciences, 2019
Background Gastrointestinal motility disorder is an important pathological basis for functional dyspepsia (FD). Epigastric ache and discomfort are the main symptoms of FD, and ghrelin deficiency is closely related to the occurrence and development of FD.
Lei Tang, Yi Zeng, Lei Li, Jingjing Wang, Duo Peng, Ting Zhang, Hongxing Zhang, Xue An   +7 more
semanticscholar   +1 more source

Subspecialty neurology genetic counselors—A cost effective solution to substantial time costs associated with genomic testing in the neurology clinic

Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.
Abstract To understand the modality and results of genetic testing in a tertiary pediatric neurology center, we undertook a review of testing to provide insights into both direct and indirect costs of testing within the department. The financial cost of 5 years (2017–2022) of genetic testing sent by the neurology department in Children's Health Ireland,
John Coleman, Patrick Moloney, Claire Giffney, Mary O. Regan, David Webb, Kenny Lynch, Leona Connolly, Janna Kenny, Susan Byrne   +8 more
wiley   +1 more source

mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysis

Neurobiology of Disease, 2017
Tuberous sclerosis complex (TSC) is a rare, genetic disease caused by loss-of-function mutations in either TSC1 or TSC2. Patients with TSC are neurologically characterized by the presence of abnormal brain structure, intractable epilepsy and TSC ...
Chloë Scheldeman, James D. Mills, Aleksandra Siekierska, Ines Serra, Daniëlle Copmans, Anand M. Iyer, Benjamin J. Whalley, Jan Maes, Anna C. Jansen, Lieven Lagae, Eleonora Aronica, Peter A.M. de Witte   +11 more
doaj  

Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis [PDF]

, 1998
Teresa A. Smolarek, Lisa L. Wessner, Francis X. McCormack, Johanna C. Mylet, Anil G. Menon, Elizabeth P. Henske   +5 more
openalex   +1 more source