Results 21 to 30 of about 18,686 (194)

Tsc1 Regulates the Proliferation Capacity of Bone-Marrow Derived Mesenchymal Stem Cells

Cells, 2020
TSC1 is a tumor suppressor that inhibits cell growth via negative regulation of the mammalian target of rapamycin complex (mTORC1). TSC1 mutations are associated with Tuberous Sclerosis Complex (TSC), characterized by multiple benign tumors of ...
Maria V. Guijarro, Laura S. Danielson, Marta Cañamero, Akbar Nawab, Carolina Abrahan, Eva Hernando, Glyn D. Palmer   +6 more
doaj   +1 more source

Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals. [PDF]

PLoS ONE, 2014
Germline and somatic biallelic mutations of the Tuberous sclerosis complex (TSC) 1 and TSC2 gene products cause TSC, an autosomal dominant multifocal hamartomatosis with variable neurological manifestations. The consequences of TSC1 or TSC2 loss in cells
Karolina Pilipow, Veronica Basso, Nicola Migone, Anna Mondino   +3 more
doaj   +1 more source

Oncogenic role of MiR-130a in oral squamous cell carcinoma

Scientific Reports, 2021
Aberrant activation of the PI3K/AKT/mTOR pathway is attributed to the pathogenesis of oral squamous cell carcinoma (OSCC). In recent years, increasing evidence suggests the involvement of microRNAs (miRNAs) in oral carcinogenesis by acting as tumor ...
Karthik Mallela, Swamy Shivananda, Kodaganur S. Gopinath, Arun Kumar   +3 more
doaj   +1 more source

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex

BMC Medical Genetics, 2009
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues.
den Dunnen Johan T, Povey Sue, Ekong Rosemary, Sampson Julian, Kwiatkowski David, Hoogeveen-Westerveld Marianne, Mozaffari Melika, van den Ouweland Ans, Halley Dicky, Nellist Mark   +9 more
doaj   +1 more source

A Human TSC1 Variant Screening Platform in Gabaergic Cortical Interneurons for Genotype to Phenotype Assessments

Frontiers in Molecular Neuroscience, 2020
The TSC1 and TSC2 genes are connected to multiple syndromes from Tuberous Sclerosis Complex (TSC) to autism spectrum disorder (ASD), with uncertainty if genetic variants cause all or subsets of phenotypes based on the location and type of change.
Dean Wundrach, Luis E. Martinetti, Luis E. Martinetti, April M. Stafford, Stephanie M. Bilinovich, Kartik Angara, Jeremy W. Prokop, Jeremy W. Prokop, Jeremy W. Prokop, Shane R. Crandall, Shane R. Crandall, Daniel Vogt, Daniel Vogt, Daniel Vogt   +13 more
doaj   +1 more source

TSC1/2 signaling complex is essential for peripheral naïve CD8+ T cell survival and homeostasis in mice. [PDF]

PLoS ONE, 2012
The PI3K-Akt-mTOR pathway plays crucial roles in regulating both innate and adaptive immunity. However, the role of TSC1, a critical negative regulator of mTOR, in peripheral T cell homeostasis remains elusive.
Lianjun Zhang, Hongbing Zhang, Lanlan Li, Yi Xiao, Enyu Rao, Zhuang Miao, Hui Chen, Lina Sun, Hongran Li, Guangwei Liu, Yong Zhao   +10 more
doaj   +1 more source

Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2010
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3.
Hoogeveen - Westerveld, Marianne, Exalto, Carla, Maat-Kievit, JA, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark   +5 more
openaire   +3 more sources

Renal organoid modeling of tuberous sclerosis complex reveals lesion features arise from diverse developmental processes

Cell Reports, 2022
Summary: Tuberous sclerosis complex (TSC) is a multisystem tumor-forming disorder caused by loss of TSC1 or TSC2. Renal manifestations predominately include cysts and angiomyolipomas. Despite a well-described monogenic etiology, the cellular pathogenesis
Adam Pietrobon, Julien Yockell-Lelièvre, Trevor A. Flood, William L. Stanford   +3 more
doaj   +1 more source

Moderate lifelong overexpression of tuberous sclerosis complex 1 (TSC1) improves health and survival in mice

Scientific Reports, 2017
The tuberous sclerosis complex 1/2 (TSC1/2) is an endogenous regulator of the mechanistic target of rapamycin (mTOR). While mTOR has been shown to play an important role in health and aging, the role of TSC1/2 in aging has not been fully investigated. In
Hong-Mei Zhang, Vivian Diaz, Michael E. Walsh, Yiqiang Zhang   +3 more
doaj   +1 more source

A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense‐mediated mRNA degradation (NMD) simultaneously in a Chinese family

Molecular Genetics & Genomic Medicine, 2020
Background Tuberous sclerosis complex (TSC), belongs to autosomal dominant genetic disorder, which affects multiple organ systems in the body, including the skin, brain, lungs, kidneys, liver, and eyes.
Cong Qiu, Chengyan Li, Xiaoyun Tong, Luoyang Dai, Wenda Liu, Yulie Xie, Qimei Zhang, Guohua Yang, Tao Li   +8 more
doaj   +1 more source