Results 61 to 70 of about 31,418 (252)
Advanced Science, EarlyView.Vitamin D (VitD) modulates olfactory function by remodeling dendrodendritic synapses in tufted cells through vitamin D receptor‐dependent transcriptional and translational mechanisms. VitD regulates synaptic protein translation partially via mTOR signaling.
Pengcheng Ren +9 more
wiley +1 more source
Advanced Science, EarlyView.Tumor evolution in lung adenocarcinoma is shaped by genetic alterations and spatial immune dynamics. By integrating whole‐exome sequencing, imaging mass cytometry, and spatial transcriptomics across two mouse models, this study reveals how mutational burden, immune infiltration, and cell–state interactions evolve during early and late carcinogenesis ...
Bo Zhu +34 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti +14 more
wiley +1 more source
Annals of the Child Neurology Society, EarlyView.ABSTRACT Objective Autism spectrum disorder (ASD) affects 1 in 36 individuals in the United States and is characterized by impaired social communication and restrictive/repetitive behaviors. Individuals with tuberous sclerosis complex (TSC) have a high incidence of ASD (40%) and exhibit congenital brain lesions (tubers), offering a unique lesion‐based ...
Wendy Xiao Herman +10 more
wiley +1 more source
Molecular Autism, 2020 Background Mutations in TSC1 or TSC2 genes cause tuberous sclerosis complex (TSC), a disorder associated with epilepsy, autism, and intellectual disability.
Nabila Haji +5 more
doaj +1 more source
, 2013 Merging galaxy clusters have become one of the most important probes of dark matter, providing evidence for dark matter over modified gravity and even constraints on the dark matter self-interaction cross-section.
Dawson, William A.
core +1 more source
Experimental Control and Characterization of Autophagy in Drosophila [PDF]
, 2008 Insects such as the fruit fly Drosophila melanogaster, which fundamentally reorganize their body plan during metamorphosis, make extensive use of autophagy for their normal development and physiology.
A.D. Velentzas +18 more
core +1 more source
Retraction: Drosophila yakuba – Tsc1
, 2021 Lose, B; Myers, A; Fondse, S; Alberts, I; Stamm, J; Youngblom, JJ; Rele, CP; Reed, LK (2021). Private: Drosophila yakuba – Tsc1. microPublication Biology. 10.17912/micropub.biology.000407, was mistakenly published before peer-review was completed. This was not an intentional . The published version of the article was made removed from public viewing on
openaire +1 more source
The variation of AkT/TSC1–TSC1/mTOR signal pathway in hepatocytes after partial hepatectomy in rats
Experimental and Molecular Pathology, 2009 The aim of this study was to investigate the role and regulatory mechanisms of Akt/TSC1-TSC2/mTOR signal pathway on the hepatocyte growth and proliferation after partial hepatectomy in rats.We used the animal model of 70% hepatectomy, separated and cultivated hepatocytes.
Ping, Chen +3 more
openaire +2 more sources