The DOI matches its Crossref record; 98 of the 98 references it cites were found in a registry or an index.
The Tuberous Sclerosis Complex
Abstract
The tuberous sclerosis complex (TSC), a multisystem, autosomal dominant disorder affecting children and adults, results from mutations in one of two genes, TSC1 (encoding hamartin) or TSC2 (encoding tuberin). In this article, the current knowledge of the pathogenesis of the disease and its management are discussed.
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In the citing paper
“Tuberous sclerosis complex (TSC) is a genetic neurodevelopmental disorder characterized by focal brain malformations called cortical tubers, which are associated with severe, intractable epilepsy1.”
From mTORC1 drives cell-autonomous astrocyte reactivity in tuberous sclerosis (2026) · cites this paper as [1]
In the citing paper
“TSC leads to hamartomas in several organs and a constellation of neurological and psychiatric conditions, including severe, early-onset epilepsy1.”
From mTORC1 drives cell-autonomous astrocyte reactivity in tuberous sclerosis (2026) · cites this paper as [1]
Citations
Cites
1 retracted
Dan, H. C., Sun, M., Yang, L., Feldman, R. I., Sui, X.-M., Ou, C. C., Nellist, M. D., Yeung, R. S. W., Halley, D. J. J., Nicosia, S. V., et al. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m205838200 · Cited by 370
RetractedMutation and cancer: statistical study of retinoblastoma
Knudson, A. G. (1971) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.68.4.820 · Cited by 7,612
TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival
Inoki, K., Zhu, T., & Guan, K.-L. (2003) · Cell · doi:10.1016/s0092-8674(03)00929-2 · Cited by 3,914
Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling
Inoki, K., Li, Y., Xu, T., & Guan, K.-L. (2003) · Genes & Development · doi:10.1101/gad.1110003 · Cited by 1,911
Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
Slegtenhorst, M. V., Hoogt, R. D., Hermans, C., Nellist, M., Janssen, B., Verhoef, S., Lindhout, D., Ouweland, A. V. D., Halley, D., Young, J., et al. (1997) · Science · doi:10.1126/science.277.5327.805 · Cited by 1,648
Self-citationIdentification and characterization of the tuberous sclerosis gene on chromosome 16
(1993) · Cell · doi:10.1016/0092-8674(93)90618-z · Cited by 1,645
Manning, B. D., Tee, A. R., Logsdon, M. N., Blenis, J., & Cantley, L. C. (2002) · Molecular Cell · doi:10.1016/s1097-2765(02)00568-3 · Cited by 1,555
Phosphorylation and Functional Inactivation of TSC2 by Erk
Ma, L., Chen, Z., Erdjument-Bromage, H., Tempst, P., & Pandolfi, P. P. (2005) · Cell · doi:10.1016/j.cell.2005.02.031 · Cited by 1,268
Fingar, D. C., & Blenis, J. (2004) · Oncogene · doi:10.1038/sj.onc.1207542 · Cited by 1,264
The LKB1 tumor suppressor negatively regulates mTOR signaling
Shaw, R. J., Bardeesy, N. M., Manning, B. D., Lopez, L. V., Kosmatka, M., DePinho, R. A., & Cantley, L. C. (2004) · Cancer Cell · doi:10.1016/j.ccr.2004.06.007 · Cited by 1,107
Research works printed but not linked: 7
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- Bjornsson J, 1996, Am J Pathol, 149, 1201
- Henske EP, 1996, Am J Hum Genet, 59, 400
- Plank TL, 1998, Cancer Res, 58, 4766
- Plank TL, 1999, Mod Pathol, 12, 539
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Cited by
Sorted by citations
Items 1,001–1,001 of 1,001
mTORC1 drives cell-autonomous astrocyte reactivity in tuberous sclerosis
Li, T. L., Blair, J. D., Yoo, T., Grant, G. A., Hockemeyer, D., Porter, B. E., & Bateup, H. S. (2026) · Nature · doi:10.1038/s41586-026-11054-w · Cited by 1
Metadata
- Authors
- Crino, P. B., Nathanson, K. L., & Henske, E. P.
- Affiliations
- University of Pennsylvania Health System (US)
- University of Pennsylvania (US)
- Fox Chase Cancer Center (US)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2006-09-28
- Volume
- 355
- Issue
- 13
- Pages
- 1345-1356
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2383259826
- Cited by
- 1,793
- References
- 98
- Citations by year
- 2026: 39 · 2025: 61 · 2024: 73 · 2023: 61 · 2022: 79 · 2021: 96 · 2020: 94 · 2019: 67 · 2018: 95 · 2017: 101 · 2016: 102 · 2015: 109 · 2014: 119 · 2013: 146 · 2012: 129
- FWCI
- 7.94
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Heart, Lung, and Blood Institute (HL60746, R01HL060746)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-51052)
- National Institute of Neurological Disorders and Stroke (NS045021, R01NS045021)
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Tuberous Sclerosis Complex Research
- Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
- Keywords
- tuberous sclerosis complex, TSC1, hamartin, TSC2, tuberin, autosomal dominant disorder, pathogenesis, disease management, multisystem disease
- MeSH terms
- Tuberous Sclerosis Complex 1 Protein, Tuberous Sclerosis Complex 2 Protein, Estrogens, Female, Humans, Genetic Linkage, Male, Mutation, Protein Kinases, Tuberous Sclerosis, Signal Transduction, Tumor Suppressor Proteins, TOR Serine-Threonine Kinases
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