An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database [PDF]
Genetics and Molecular BiologyTuberous Sclerosis Complex (TSC) is caused by loss of function germline variants in the TSC1 or TSC2 tumor suppressor genes. Genetic testing for the detection of pathogenic variants in either TSC1 or TSC2 was implemented as a diagnostic criterion for TSC.
Arthur Bandeira de Mello Garcia +7 more
doaj +1 more source
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation [PDF]
, 1999 Marjon van Slegtenhorst +10 more
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Determinants of Business Cycle Comovement: A Robust Analysis [PDF]
This paper investigates the determinants of business cycle comovement between countries. Our dataset includes over 100 countries, both developed and developing.
Marianne Baxter, Michael A. Kouparitsas
core +3 more sources
TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth [PDF]
, 2001 Xinsheng Gao, Duojia Pan
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Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis [PDF]
, 2002 Taizo Sato +7 more
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CHARACTERISTICS OF INDIVIDUALS UNDERGOING PANEL GENETIC TESTING FOR PRIMARY BRAIN TUMORS [PDF]
, 2018 Background. Currently, there are no genetic testing guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and their relation to genetic contribution.
Azam, Sarah
core +1 more source
An Analysis of the Dismal Theorem [PDF]
In a series of papers, Martin Weitzman has proposed a Dismal Theorem. The general idea is that, under limited conditions concerning the structure of uncertainty and preferences, society has an indefinitely large expected loss from high-consequence, low ...
William D. Nordhaus
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RHEBI Expression in Embryonic and Postnatal Mouse
, 2016 Ras homolog enriched in brain (RHEB1) is a member within the superfamily of GTP-binding proteins encoded by the RAS oncogenes. RHEB1 is located at the crossroad of several important pathways including the insulin-signaling pathways and thus plays an ...
Clement, Joachim H. +8 more
core
Psychiatric Impact of Tuberous Sclerosis Complex and Utilization of Mental Health Treatment [PDF]
, 2018 Tuberous sclerosis complex (TSC) is a multi-system, neurocutaneous disorder with neuropsychiatric features known as TSC-associated neuropsychiatric disorders (TAND).
Mowrey, Kate
core +1 more source
Regulation of mTOR function in response to hypoxia by REDD1 and the TSC1/TSC2 tumor suppressor complex [PDF]
, 2004 James Brugarolas +8 more
openalex +1 more source