The tuberous sclerosis complex.

By Peter B. Crino, K. Nathanson, E. Henske. New England Journal of Medicine, 2006

984 citations recorded by the source corpus.

Subfields: Oncology, Physiology

View Paper: https://www.semanticscholar.org/paper/8d5e760645dee29c7605ecb2e46b5740d35437b0

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Oncology

1. Mustafa Sahin
2. H. Zoghbi
3. Lewis C. Cantley
4. David M. Sabatini
5. Mark F. Bear
6. J. Lipton

In Physiology

1. David M. Sabatini
2. B. Manning
3. Lewis C. Cantley
4. Jingxiang Huang
5. Mustafa Sahin
6. H. Zoghbi
7. Mark F. Bear
8. J. Lipton

Citations in the corpus

• The genetic basis of kidney cancer: a metabolic disease (2010, neutral): “Germline mutations in one or other of these genes have been identified in patients with tuberous sclerosis complex, an autosomal dominant disorder associated with the development of cutaneous angiofibromas, pulmonary lymphangiomyomatosis and renal tumors”
• The Neurology of mTOR (2014, positive): “’’ TSC affects 1/6,000 individuals worldwide (Crino et al., 2006).”
• The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. (2008, background): “For more details on TSC genetics and pathology, readers should refer to the excellent review by Crino and colleagues [5].”
• Regulation of the mTOR complex 1 pathway by nutrients, growth factors, and stress (2010, background): “Tsc1 and Tsc2 , when lost, lead to the development of tuberous sclerosis complex, a tumor Review syndrome characterized by the appearance in a variety of tissues of benign tumors containing large cells (Kwiatkowski and Manning, 2005; Orlova and Crino, 2010).”
• Bidirectional Transport of Amino Acids Regulates mTOR and Autophagy (2009, positive): “521 pathways converge on proteins encoded by the TSC1 and TSC2 tumor suppressor genes which are mutated in the tuberous sclerosis complex (TSC) tumor syndrome ( Crino et al., 2006 ).”
• Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. (2012, positive): “Mutations in TSC1 cause up to 30% of familial cases and 15% of sporadic causes, whereas mutations in TSC2 account for up to 50% of sporadic causes and a high percentage of familial cases (Crino et al. 2006; Curatolo et al. 2008).”
• Targeting the phosphoinositide 3-kinase (PI3K) pathway in cancer (2009, background): “The discovery of the association of mTORC1 with the bipartite complex TSC1 and TSC2 of tumour suppressor proteins provided a molecular link between mTOR and cancer (reviewed in Ref”