Results 191 to 200 of about 20,458 (226)

Role of TSC1 in physiology and diseases

Molecular and Cellular Biochemistry, 2021
Since its initial discovery as the gene altered in Tuberous Sclerosis Complex (TSC), an autosomal dominant disorder, the interest in TSC1 (Tuberous Sclerosis Complex 1) has steadily risen. TSC1, an essential component of the pro-survival PI3K/AKT/MTOR signaling pathway, plays an important role in processes like development, cell growth and ...
Karthik Mallela, Arun Kumar
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Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

European Journal of Human Genetics, 2010
Tuberous sclerosis complex (TSC), an autosomal dominant disorder, is a multisystem disease with manifestations in the central nervous system, kidneys, skin and/or heart. Most TSC patients carry a pathogenic mutation in either TSC1 or TSC2.
Ans M W Van Den Ouweland, Peter Elfferich, Bernard A Zonnenberg   +2 more
exaly   +3 more sources

Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7)

Journal of Biological Chemistry, 2016
Mutations in TSC1 or TSC2 cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the occurrence of benign tumors in various vital organs and tissues.
Jiayue Qin, Zhizhi Wang, Marianne Hoogeveen-Westerveld   +2 more
exaly   +2 more sources

Tsc1 controls the development and function of alveolar macrophages

Biochemical and Biophysical Research Communications, 2018
Alveolar macrophages (AMs) are pivotal for maintaining the lung homeostasis, but how the development and function of AMs regulated remains largely unknown. In the present study, we demonstrated that the number of AMs was controlled by the Tsc1 protein. Cd11c-specific deletion of Tsc1 caused inefficient transition from pre-AMs to AMs in lung, which led ...
Song, Chen, Qiongmei, Yang, Jingru, Liu, Huifang, Huang, Mingxia, Shi, Xiaoming, Feng   +5 more
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Evolution of the TSC1/TSC2-TOR Signaling Pathway

Science Signaling, 2010
The TSC1/TSC2-TOR signaling pathway evolved from a primitive signaling pathway linking adenosine monophosphate abundance to cell growth.
Jaco, Serfontein, R Ellen R, Nisbet, Christopher J, Howe, Petrus J, de Vries   +3 more
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Molecular analysis of the TSC1 gene in adenocarcinoma of the lung

Lung Cancer, 2004
We previously reported that loss of heterozygosity (LOH) in tuberous sclerosis 1 (TSC1)-gene-associated region on chromosome 9q34, was frequently observed in adenocarcinoma (AC) of the lung and its putative precursor lesion, atypical adenomatous hyperplasia (AAH).
Kazuya, Takamochi, Tsutomu, Ogura, Tomoyuki, Yokose, Atsushi, Ochiai, Kanji, Nagai, Yutaka, Nishiwaki, Kazuya, Suzuki, Hiroyasu, Esumi   +7 more
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Tackling Tsc1 to Promote Nephrogenesis

New England Journal of Medicine, 2018
Hamartin and Kidney Development A pivotal event in kidney development is the formation of nephrons, the number of which is inversely proportional to the risk of kidney disease.
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Combined TSC1 and LMX1B mutations in a single patient

Clinical Dysmorphology, 2014
Tuberous sclerosis complex (TSC) and nail-patella syndrome (NPS) are autosomal dominant pleiotropic disorders with full penetrance that can both involve kidneys. TSC1 and NPS genes are located on chromosome 9q3. In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes.
Ola, Khalifa, Nadia, Al-Sakati, Khalid, Al-Mane, Ameera, Balobaid, Zuhair N, Al-Hassnan   +4 more
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TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios

European Journal of Pediatrics, 2002
Tuberous sclerosis (TSC) is a multisystem disease with manifestations in the central nervous system, skin, kidneys, heart, and other visceral organs. The development of TSC is associated with alterations within a gene on chromosome 9q34 ( TSC1) and a gene on chromosome 16p13 ( TSC2).
Langkau, Nicola, Martin, Nicola, Brandt, Regine, Zügge, Karin Louise, Quast, Stefanie, Wiegele, Gerd, Jauch, Anna, Rehm, Marion, Kuhl, Andrea, Mack-Vetter, Monika, Zimmerhackl, Lothar Bernd, Janssen, Bart   +11 more
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The TSC1 gene product hamartin interacts with NADE

Molecular and Cellular Neuroscience, 2007
Hamartomatous brain lesions are a hallmark of brain pathology of tuberous sclerosis complex (TSC). To elucidate the mechanism of tumor development in the brain of TSC, we identified NADE (p75NTR-associated cell death executor) as an interactor for TSC1 gene product hamartin using a yeast two-hybrid system.
Sakiko, Yasui, Kokoro, Tsuzaki, Haruaki, Ninomiya, Florin, Floricel, Yasuo, Asano, Hirotoshi, Maki, Ayumi, Takamura, Eiji, Nanba, Katsumi, Higaki, Kousaku, Ohno   +9 more
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