Cited by 1,793Tuberous Sclerosis Complex ResearchGenetic and rare skin diseases.PI3K/AKT/mTOR signaling in cancer

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The Tuberous Sclerosis Complex

Crino, Peter B., Nathanson, Katherine L., Henske, Elizabeth Petri·2006·New England Journal of Medicine

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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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Crossref · 10.1056/nejmra055323

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Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance
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See all 1,793

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)
ORCID: Crino, Peter B.
Nathanson, Katherine L.
Henske, Elizabeth Petri
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
DOI: 10.1056/nejmra055323
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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