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.

April 30, 2020
Open Access

Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex

PloS One
Iván Sánchez FernándezTACERN Study Group
May 20, 2020

Molecular basis of unilateral condylar hyperplasia?

International Journal of Oral and Maxillofacial Surgery
J W NolteR C M Hennekam
May 21, 2020

A Rare Soft-Tissue Tumor in a 15-Year-Old Boy With Tuberous Sclerosis Complex: Answer

The American Journal of Dermatopathology
Lindsey OudijkJeffrey Damman
May 16, 2020

The efficacy of cannabidiol on renal angiomyolipoma and subependymal giant cell tumor volume in tuberous sclerosis complex

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
James R BarnettElizabeth A Thiele
May 19, 2020
Open Access

Long Noncoding RNA WT1-AS Inhibit Cell Malignancy via miR-494-3p in Glioma

Technology in Cancer Research & Treatment
Guangting QiuJiang Zhao
May 29, 2020

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Barbara OgórekDavid J Kwiatkowski
May 16, 2020

Rare MDM2 amplification in a fat-predominant angiomyolipoma

Virchows Archiv : an International Journal of Pathology
Maria Del Carmen Rodriguez PenaCarlos N Prieto Granada
April 29, 2020

Reticulohistiocytoma (solitary epithelioid histiocytoma) with mutations in RAF1 and TSC2

Journal of Cutaneous Pathology
Eman BahraniRoberto A Novoa
May 6, 2020
Open Access

Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature

Journal of Neurosciences in Rural Practice
Indar Kumar Sharawat, Prateek Kumar Panda
May 13, 2020

PKG1α Cysteine-42 Redox State Controls mTORC1 Activation in Pathological Cardiac Hypertrophy

Circulation Research
Christian U OeingMark J Ranek
May 22, 2020

A Rare Soft-Tissue Tumor in a 15-Year-Old Boy With Tuberous Sclerosis Complex: Challenge

The American Journal of Dermatopathology
Lindsey OudijkJeffrey Damman
May 19, 2020

Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex

Pediatric Neurology
Leslie E GraysonTACERN Study Group
May 18, 2020

Prophylactic Antiepileptic Treatment in Tuberous Sclerosis

Pediatric Neurology
Prerna ChoudhuryAndrew L Lux

Sign up to follow this feed and discover related papers.

Related Feeds

ALS

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

ALS & FTD: TDP-43

ALS shares with a considerable proportion of FTD cases the same neuropathological substrate, namely, inclusions of abnormally phosphorylated protein tdp-43 (ptdp-43). Here are the latest discoveries pertaining to ptdp-43 and these diseases.

ALS - Pathogenic Mechanisms

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating pathogenic mechanisms that underlie this genetically heterogeneous disorder.

ALS - Phenotypes

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating phenotypes associated with this genetically heterogeneous disorder.

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

ALS: Prions

Prions are misfolded proteins which characterize several fatal neurodegenerative diseases. Prion-like mechanisms are associated with the pathogenesis of Amyotrophic Lateral Sclerosis (ALS). Here are the latest discoveries pertaining to this disease.

ALS: Stress Granules

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by cytoplasmic protein aggregates within motor neurons. TDP-43 is an ALS-linked protein that is known to regulate splicing and storage of specific mRNAs into stress granules, which have been implicated in formation of ALS protein aggregates. Here is the latest research.

ALS: Therapies

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS therapies here.

ALS: Transposon de-silencing

Transposon silencing is a form of transcriptional gene silencing. These gene silencing mechanisms are impaired in Amyotrophic lateral sclerosis (ALS). Here are the latest discoveries pertaining to transposon silencing and this disease.

Adenomatous Polyposis Coli

Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.

© 2020 Meta ULC. All rights reserved
/feed-previews/tuberous-sclerosis/f9b26b1c-6047-4bef-986e-a560d8a2a3ea