Tuberous Sclerosis

Tuberous Sclerosis (TSC) is an autosomal dominant genetic disorder caused by mutations in TSC1 or TSC2 tumor suppressor genes and characterized by the development of benign hamartomas in multiple organs. Here is the latest research.

September 6, 2020
Preprint
Open Access

TSC-Insensitive Rheb Mutations Induce Oncogenic Transformation Through a Combination of Hyperactive mTORC1 Signalling and Metabolic Reprogramming

BioRxiv : the Preprint Server for Biology
Christopher G ProudT. J. Sargeant
September 8, 2020

Evolution of Surgical Management for Intractable Epileptic Spasms

Seminars in Pediatric Neurology
Salman Rashid, Harry T Chugani
September 10, 2020
Case Report
Open Access

Cutaneous Lesions as the Sole Presentation of Tuberous Sclerosis

Curēus
Mohanad AhmedMohamed Elfatih Mustafa
September 10, 2020
Open Access

Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study

Frontiers in Neurology
Gianluca D'OnofrioRima Nabbout
September 9, 2020

The Rag GTPase Regulates the Dynamic Behavior of TSC Downstream of Both Amino Acid and Growth Factor Restriction

Developmental Cell
Shu YangMary A Lilly
September 5, 2020

Comprehensive genomic profiling of gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs)

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
Alberto PucciniHeinz-Josef Lenz
August 29, 2020

Effect of Gene Mutation on Seizures in Surgery for Tuberous Sclerosis Complex

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
Srinivas ChivukulaAria Fallah
August 28, 2020
Open Access

mTORC1 Is Not Principally Involved in the Induction of Human Endotoxin Tolerance

Frontiers in Immunology
Kristin LudwigIgnacio Rubio
September 18, 2020
Open Access

The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation

Molecular Genetics and Metabolism Reports
Randall C MazzarinoGuido N Vacano
September 13, 2020
Open Access

A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex

BMC Medical Genetics
Shunzhi HeJing Li
September 6, 2020

Genomic Profiling Aids Classification of Diagnostically Challenging Uterine Mesenchymal Tumors With Myomelanocytic Differentiation

The American Journal of Surgical Pathology
Pier SelenicaRajmohan Murali
August 27, 2020
Preprint
Open Access

Aberrant DJ-1 expression underlies L-type calcium channel hypoactivity in tuberous sclerosis complex and Alzheimer's disease

BioRxiv : the Preprint Server for Biology
F. NiereKimberly F Raab-Graham
September 12, 2020

Family reflections: tuberous sclerosis complex (TSC)

Pediatric Research
Shelly Meitzler
September 16, 2020
Open Access

Tsc1 Regulates the Proliferation Capacity of Bone-Marrow Derived Mesenchymal Stem Cells

Cells
Maria V GuijarroGlyn D Palmer
September 4, 2020
Preprint
Open Access

mTOR inhibition in primary neurons and the developing brain represses transcription of cholesterol biosynthesis genes and alters cholesterol levels

BioRxiv : the Preprint Server for Biology
M. SchueleJennifer Winter

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