Results 91 to 100 of about 28,615 (209)

TSC1/2 mutations define a molecular subset of HCC with aggressive behaviour and treatment implication [PDF]

, 2017
Objective We investigated the mutational landscape of mammalian target of rapamycin (mTOR) signalling cascade in hepatocellular carcinomas (HCCs) with chronic HBV background, aiming to evaluate and delineate mutation-dependent mechanism of mTOR ...
Chan, LK, Cheung, TT, Chiu, YT, Ho, DWH, Lam, PWY, Li, M, Lo, ILO, Ng, IOL, Poon, RTP, Tang, CN, Tang, VWL, Wong, CM, XU, M, Yau, DTW   +13 more
core   +1 more source

Analytical Approaches to Address Challenges in the Analysis of Cannabinoids in Vascular Matrices Using Mass Spectrometry

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Phytocannabinoids are bioactive metabolites derived from the Cannabis sativa plant. They have garnered attention due to their recreational uses and therapeutic potential. Although various analytical strategies have been employed for their analysis, mass spectrometry (MS) coupled to chromatographic separation is superior due to its sensitivity ...
Radwa Mahmoud, Robert B. Laprairie, Anas El‐Aneed   +2 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

GSK-3β at the Crossroads in Regulating Protein Synthesis and Lipid Deposition in Zebrafish

Cells, 2019
In this study, the mechanism by which GSK-3β regulates protein synthesis and lipid deposition was investigated in zebrafish (Danio rerio). The vector of pEGFP-N1-GSK-3β was constructed and injected into the muscle of zebrafish.
Yaqi Gu, Lili Gao, Qiang Han, Ao Li, Hairui Yu, Dongwu Liu, Qiuxiang Pang   +6 more
doaj   +1 more source

Lack of Association of Rare Functional Variants in TSC1/TSC2 Genes with Autism Spectrum Disorder [PDF]

, 2013
Background: Autism spectrum disorder (ASD) is reported in 30 to 60% of patients with tuberous sclerosis complex (TSC) but shared genetic mechanisms that exist between TSC-associated ASD and idiopathic ASD have yet to be determined.
Bahl, Samira, Beauchamp, Roberta L, Chiang, Colby, Daly, Mark Joseph, Gusella, James Francis, Neale, Benjamin Michael, Ramesh, Vijaya, Talkowski, Michael Edward   +7 more
core   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

The effect of a bout of resistance exercise on skeletal muscle protein metabolism after severe fasting

Physiological Reports, 2019
Resistance exercise (RE) activates the mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway and increases muscle protein synthesis. Severe fasting induces 5′ adenosine monophosphate‐activated protein kinase (AMPK), which attenuates mTORC1
Kohei Sase, Kohei Kido, Satoru Ato, Satoshi Fujita   +3 more
doaj   +1 more source

Everolimus Reduces the Size of Tuberous Sclerosis Complex-Related Huge Renal Angiomyolipomas Exceeding 20 cm in the Longest Diameter

Case Reports in Oncology, 2018
We evaluated the efficacy of everolimus in 3 patients who had huge renal angiomyolipomas associated with tuberous sclerosis complex. Two patients with large lipid-rich angiomyolipomas had a history of renal transarterial embolization for renal bleeding ...
Naoya Toriu, Hiroki Mizuno, Naoki Sawa, Keiichi Sumida, Tatsuya Suwabe, Noriko Hayami, Akinari Sekine, Masayuki Yamanouchi, Junichi Hoshino, Kenmei Takaichi, Motoko Yanagita, Takuya Fujimaru, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Yoshifumi Ubara   +15 more
doaj   +1 more source

Tuberous Sclerosis Complex Activity Is Required to Control Neuronal Stress Responses in an mTOR-Dependent Manner [PDF]

, 2009
Tuberous Sclerosis Complex (TSC) is a neurogenetic disorder caused by loss-of-function mutations in either the TSC1 or TSC2 genes and frequently results in prominent CNS manifestations including epilepsy, mental retardation, and autism spectrum disorder.
Cho, Namjik, Di Nardo, Alessia, Kramvis, Ioannis, Kwiatkowski, David J., Meikle, Lynsey, Sadowski, Abbey, Sahin, Mustafa   +6 more
core   +1 more source

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +1 more source