Results 161 to 170 of about 18,686 (194)

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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Phosphorylation and binding partner analysis of the TSC1–TSC2 complex

Biochemical and Biophysical Research Communications, 2005
Tuberous sclerosis complex (TSC) is an autosomal dominant benign tumour syndrome caused by mutations to either the TSC1 or TSC2 tumour suppressor gene. The TSC1 and TSC2 gene products, TSC1 and TSC2, form a protein complex that integrates inputs from multiple signalling cascades to inactivate the small GTPase rheb, and thereby inhibit mTOR-dependent ...
Mark Nellist, Theo M. Luider, Ans M.W. van den Ouweland   +2 more
exaly   +4 more sources

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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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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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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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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Mutational analysis of TSC1 and TSC2 genes in gangliogliomas

Neuropathology and Applied Neurobiology, 2001
Gangliogliomas constitute the most frequent tumour entity in patients with temporal lobe epilepsy. The characteristic histopathological admixture of glial and neuronal elements, the focal nature and their differentiated phenotype and benign biological behaviour suggest an origin from a developmentally compromised or dysplastic precursor lesion.
Becker, A.J., Lobach, M., Klein, H., Normann, S., Nöthen, M.M., von Deimling, A., Mizuguchi, M., Elger, C.E., Schramm, J., Wiestler, O.D., Blümcke, I.   +10 more
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Prognostic implication of TSC1 and mTOR expression in gastric carcinoma

Journal of Surgical Oncology, 2014
BackgroundGastric adenocarcinoma is the sixth most common and third most lethal cancer in the world. Except for HER2‐targeted therapy, targeted agents against specific molecules participating in gastric carcinogenesis, including those in the mechanistic target of rapamycin (serine/threonine kinase) (mTOR) pathway have not been proved to be effective ...
Sun-Ju, Byeon, Nayoung, Han, Jiwoon, Choi, Min A, Kim, Woo Ho, Kim   +4 more
openaire   +2 more sources

Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

Science, 1997
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 ( TSC1 ) and 16p13 ( TSC2 ).
van Slegtenhorst, Marjon, de, Hoogt, Hermans, C, Nellist, M., Janssen, B., Verhoef, S., Lindhout, D, van Ouweland, A., Halley, D, Young, J., Burley, M., Jeremiah, S, Woodward, K., Nahmias, J, Fox, M, Ekong, R, Osborne, J, Wolfe, J., Povey, S, Snell, RG, Cheadle, J., Jones, A., Tachataki, M., Ravine, D, Sampson, JR, Reeve, MP, Richardson, P, Wilmer, F., Munro, C, Hawkins, TL, Sepp, T, Ali, J., Ward, S., Green, A., Yates, J., Kwiatkowska, J, Henske, EP, Short, MP, Haines, JH, Sergiusz Jóźwiak, Kwiatkowski, DJ   +40 more
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TSC1 strikes out on its own

Science Signaling, 2015
TSC1 functions independently of TSC2 and mTORC1 to promote TGF-β signaling.
openaire   +1 more source