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.

October 20, 2021
Preprint
Open Access

A Tissue-Bioengineering Strategy for Modeling Rare Human Kidney Diseases In Vivo

BioRxiv : the Preprint Server for Biology
J. HernandezDario R Lemos
October 17, 2021
Preprint
Open Access

Tuberin levels during cellular differentiation in brain development

BioRxiv : the Preprint Server for Biology
B. Abu KhatirLisa A. Porter
October 16, 2021

Paraspinal Myopathy-Induced Intervertebral Disc Degeneration and Thoracolumbar Kyphosis in TSC1mKO Mice Model - A Preliminary Study.

The Spine Journal : Official Journal of the North American Spine Society
Hwee Weng Dennis HeyShih Yin Tsai
October 15, 2021

Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome.

Cold Spring Harbor Molecular Case Studies
Timothy E GreenMichael S Hildebrand
October 13, 2021

Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex.

Journal of Medical Genetics
Katarzyna KlonowskaDavid J Kwiatkowski
October 11, 2021
Review

Epilepsy in the mTORopathies: opportunities for precision medicine.

Brain Communications
Patrick B MoloneyNorman Delanty
October 11, 2021

[Renal carcinoma with leiomyomatous stroma and osseous metaplasia from a patient diagnosed with a tuberous sclerosis complex].

Annales de pathologie
Camille GandonSolène-Florence Kammerer-Jacquet
October 11, 2021

Early Vocal Development in Tuberous Sclerosis Complex.

Pediatric Neurology
Tanjala T GipsonD Kimbrough Oller
October 9, 2021

Prenatal Sirolimus Treatment for Rhabdomyomas in Tuberous Sclerosis.

Pediatric Neurology
Daniel Ebrahimi-FakhariDavid Neal Franz
October 8, 2021
Case Report

18F-FDG Positron Emission Tomography/Computed Tomography (PET/CT) for Distinguishing Tuberous Sclerosis Complex Lesions from Colon Cancer Metastases.

The American Journal of Case Reports
Andrzej MazurekStanisław Piszczek
October 7, 2021
Open Access

Resolving the biological paradox of aneurysm formation in children with tuberous sclerosis complex.

Journal of Vascular Surgery. Vascular Science
Ulf HedinPhan-Kiet Tran
October 7, 2021

Growth Curves of Subependymal Giant Cell Tumors in Tuberous Sclerosis Complex.

AJNR. American Journal of Neuroradiology
J R BarnettP Caruso
October 5, 2021

Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state.

Genetics and Molecular Biology
Clévia RossetPatricia Ashton-Prolla
October 5, 2021
Review

Precision Therapy for Epilepsy Related to Brain Malformations.

Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics
Alissa M D'Gama, Annapurna Poduri
October 5, 2021
Review

The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.

Current Problems in Diagnostic Radiology
Amjad SamaraRami W Eldaya
October 4, 2021

[Epithelioid angiomyolipoma of the kidney after successfully treated malignant melanoma].

Der Urologe. Ausg. A
H RotheB Hoschke
October 4, 2021

Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study.

Developmental Medicine and Child Neurology
Jessie De RidderEpistop Consortium
October 4, 2021

Cardiac findings in tuberous sclerosis complex.

Lancet
Sjoerd BouwmeesterJohannes C Post

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