Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes-Reference-Cited by-同舟云学术

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Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes

Published:2018-04-30 Issue:2 Volume:97 Page:419-427
ISSN:0022-1333
Container-title:Journal of Genetics
language:en
Short-container-title:J Genet

Author:

Glushkova M.,Bojinova V.,Koleva M.,Dimova P.,Bojidarova M.,Litvinenko I.,Todorov T.,Iluca E.,Calusaru C.,Neagu E.,Craiu D.,Mitev V.,Todorova A.

Funder

Medical University Sofia

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://link.springer.com/article/10.1007/s12041-018-0927-7/fulltext.html

Reference33 articles.

1. Astrinidis A. and Henske E. P. 2005 Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease. Oncogene 24, 7475–7481.

2. Astrinidis A., Cash T. P., Hunter D. S., Walker C. L., Chernoff J. and Henske E. P. 2002 Tuberin, the tuberous sclerosis complex 2 tumor suppressor gene product, regulates Rho activation, cell adhesion and migration. Oncogene 21, 8470–8476.

3. Au K. S., Williams A. T., Gambello M. J. and Northrup H. 2004 Molecular genetic basis of tuberous sclerosis complex: from bench to bedside. J. Child. Neurol. 19, 699–709.

4. Benvenuto G., Li S., Brown S. J., Braverman R., Vass W. C. and Cheadle J. P. 2000 The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene 19, 6306–6316.

5. Chong-Kopera H., Inoki K., Li Y., Zhu T., Garcia-Gonzalo F. R., Rosa J. L. et al. 2006 TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. J. Biol. Chem. 281, 8313–8316.

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Transcriptome-Wide Association Study Reveals New Molecular Interactions Associated with Melanoma Pathogenesis;Cancers;2024-07-11

2. Molecular-Genetic Characteristics and Genotype-Phenotype Correlations in Bulgarian Patients with Tuberous Sclerosis Complex;Acta Medica Bulgarica;2021-07-01

3. 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;2020-07-31

4. Malignancy of renal angiomyolipoma from tuberous sclerosis complex with TSC2 mutation;Chinese Medical Journal;2019-01-05

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