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 …

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 …

European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis

SR Johnson, JF Cordier, R Lazor… - European …, 2010 - Eur Respiratory Soc
METHODS The purpose of the LAM Task Force was to produce evidence based, consensus
guidelines for the diagnosis, assessment and treatment of patients with LAM. The two …

Lymphatic vascular morphogenesis in development, physiology, and disease

S Schulte-Merker, A Sabine, TV Petrova - Journal of Cell Biology, 2011 - rupress.org
The lymphatic vasculature constitutes a highly specialized part of the vascular system that is
essential for the maintenance of interstitial fluid balance, uptake of dietary fat, and immune …

Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin-and farnesylation-dependent manner

AF Castro, JF Rebhun, GJ Clark, LA Quilliam - Journal of Biological …, 2003 - ASBMB
Recently the tuberous sclerosis complex 2 (TSC2) tumor suppressor gene product has been
identified as a negative regulator of protein synthesis upstream of the mTOR and ribosomal …

Lymphangioleiomyomatosis

SR Johnson - European Respiratory Journal, 2006 - Eur Respiratory Soc
Lymphangioleiomyomatosis (LAM) is a rare disease of the lungs and lymphatics, which can
occur sporadically or in association with tuberous sclerosis. LAM almost exclusively affects …

[HTML][HTML] Tuberous sclerosis complex

H Northrup, MK Koenig, DA Pearson, KS Au - 2021 - europepmc.org
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic
macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic …

Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis

EC Harknett, WYC Chang, S Byrnes… - … Journal of Medicine, 2011 - academic.oup.com
Background: Understanding the true prevalence of lymphangioleiomyomatosis (LAM) is
important in estimating disease burden and targeting specific interventions. As with all rare …

Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism

M Karbowniczek, A Astrinidis, BR Balsara… - American journal of …, 2003 - atsjournals.org
Lymphangiomyomatosis (LAM) is characterized by the proliferation of abnormal smooth
muscle cells and cystic degeneration of the lung. LAM affects almost exclusively young …

Genotype/phenotype correlations in tuberous sclerosis complex

P Curatolo, R Moavero, D Roberto… - Seminars in pediatric …, 2015 - Elsevier
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
development of widespread hamartomatous lesions in various organs, including brain, skin …