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Tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …
The tuberous sclerosis complex
PB Crino, KL Nathanson… - New England Journal of …, 2006 - Mass Medical Soc
The tuberous sclerosis complex (TSC), a multisystem, autosomal dominant disorder
affecting children and adults, results from mutations in one of two genes, TSC1 (encoding …
affecting children and adults, results from mutations in one of two genes, TSC1 (encoding …
Amplification of human interneuron progenitors promotes brain tumors and neurological defects
Evolutionary development of the human brain is characterized by the expansion of various
brain regions. Here, we show that developmental processes specific to humans are …
brain regions. Here, we show that developmental processes specific to humans are …
Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double …
JJ Bissler, JC Kingswood, E Radzikowska… - The Lancet, 2013 - thelancet.com
Background Angiomyolipomas are slow-growing tumours associated with constitutive
activation of mammalian target of rapamycin (mTOR), and are common in patients with …
activation of mammalian target of rapamycin (mTOR), and are common in patients with …
Tuberous sclerosis
P Curatolo, R Bombardieri, S Jozwiak - The Lancet, 2008 - thelancet.com
Tuberous sclerosis is a genetic multisystem disorder characterised by widespread
hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver …
hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver …
Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
M Slegtenhorst, R Hoogt, C Hermans, M Nellist… - Science, 1997 - science.org
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
widespread development of distinctive tumors termed hamartomas. TSC-determining loci …
widespread development of distinctive tumors termed hamartomas. TSC-determining loci …
[KSIĄŻKA][B] Pathology and genetics of tumours of the nervous system.
P Kleihues, WK Cavenee - 2000 - cabidigitallibrary.org
This book on the World Health Organization (WHO) classification of tumours of the nervous
system reflects the view of a working group that convened for an editorial and consensus …
system reflects the view of a working group that convened for an editorial and consensus …
[HTML][HTML] Phosphorylation and functional inactivation of TSC2 by Erk: implications for tuberous sclerosisand cancer pathogenesis
Tuberous sclerosis (TSC) is a tumor syndrome caused by mutation in TSC1 or TSC2 genes.
TSC tumorigenesis is not always accompanied by loss of heterozygosity (LOH). Recently …
TSC tumorigenesis is not always accompanied by loss of heterozygosity (LOH). Recently …
Genetically engineered human cortical spheroid models of tuberous sclerosis
Tuberous sclerosis complex (TSC) is a multisystem developmental disorder caused by
mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of …
mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of …
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
SL Dabora, S Jozwiak, DN Franz, PS Roberts… - The American Journal of …, 2001 - cell.com
Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations
in either of two genes, TSC1 and TSC2. Here we report comprehensive mutation analysis in …
in either of two genes, TSC1 and TSC2. Here we report comprehensive mutation analysis in …