Tuberous sclerosis complex

EP Henske, S Jóźwiak, JC Kingswood… - Nature reviews Disease …, 2016 - nature.com
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 …

Lymphangioleiomyomatosis—a wolf in sheep's clothing

EP Henske, FX McCormack - The Journal of clinical …, 2012 - Am Soc Clin Investig
Lymphangioleiomyomatosis (LAM) is a rare progressive lung disease of women. LAM is
caused by mutations in the tuberous sclerosis genes, resulting in activation of the mTOR …

Efficacy and safety of sirolimus in lymphangioleiomyomatosis

FX McCormack, Y Inoue, J Moss… - … England Journal of …, 2011 - Mass Medical Soc
Background Lymphangioleiomyomatosis (LAM) is a progressive, cystic lung disease in
women; it is associated with inappropriate activation of mammalian target of rapamycin …

Official American Thoracic Society/Japanese Respiratory Society clinical practice guidelines: lymphangioleiomyomatosis diagnosis and management

FX McCormack, N Gupta, GR Finlay… - American journal of …, 2016 - atsjournals.org
Background: Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease that primarily
affects women. The purpose of these guidelines is to provide recommendations for the …

Perivascular epithelioid cell neoplasms: pathology and pathogenesis

AL Folpe, DJ Kwiatkowski - Human pathology, 2010 - Elsevier
Perivascular epithelioid cell neoplasms: pathology and pathogenesis - ScienceDirect Skip
to main contentSkip to article Elsevier logo Journals & Books Search RegisterSign in View …

Clinical advances in the diagnosis and therapy of the interstitial lung diseases

TE King Jr - American journal of respiratory and critical care …, 2005 - atsjournals.org
The last century experienced remarkable advances in the classification, diagnosis, and
understanding of the pathogenesis of the interstitial lung diseases. Technological advances …

Lymphangioleiomyomatosis: a clinical update

FX McCormack - Chest, 2008 - Elsevier
Lymphangioleiomyomatosis (LAM) is a rare, cystic lung disease that is associated with
mutations in tuberous sclerosis genes, renal angiomyolipomas, lymphatic spread, and …

Single-cell transcriptomic analysis identifies a unique pulmonary lymphangioleiomyomatosis cell

M Guo, JJ Yu, AK Perl… - American journal of …, 2020 - atsjournals.org
Rationale: Lymphangioleiomyomatosis (LAM) is a metastatic neoplasm of reproductive-age
women associated with mutations in tuberous sclerosis complex genes. LAM causes cystic …

Lymphangioleiomyomatosis: calling it what it is: a low-grade, destructive, metastasizing neoplasm

FX McCormack, WD Travis, TV Colby… - American journal of …, 2012 - atsjournals.org
Lymphangioleiomyomatosis (LAM) is a progressive cystic lung disease primarily affecting
women that has historically been classified and clinically managed as a nonneoplastic …

Estrogen promotes the survival and pulmonary metastasis of tuberin-null cells

JJ Yu, VA Robb, TA Morrison… - Proceedings of the …, 2009 - National Acad Sciences
Lymphangioleiomyomatosis (LAM) is an often fatal disease primarily affecting young women
in which tuberin (TSC2)-null cells metastasize to the lungs. The mechanisms underlying the …