The tuberous sclerosis complex (TSC), a multisystem, autosomal dominant disorder
affecting children and adults, results from mutations in one of two genes, TSC1 (encoding …

Background Tuberous sclerosis complex is highly variable in clinical presentation and
findings. Disease manifestations continue to develop over the lifetime of an affected …

Lymphangiomyomatosis (LAM) is a life‐threatening lung disease affecting almost
exclusively young women. Histologically, LAM is characterized by the diffuse, bilateral …

Background Tuberous sclerosis complex is a genetic disorder affecting every organ system,
but disease manifestations vary significantly among affected individuals. The diverse and …

Female sex/gender is an undercharacterized variable in studies related to lung development
and disease. Notwithstanding, many aspects of lung and sleep biology and pathobiology …

Lymphangioleiomyomatosis (LAM) is a progressive and often fatal interstitial lung disease
characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. LAM is …

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by seizures,
mental retardation, and hamartomatous lesions. Although hamartomas can occur in almost …

Lymphangiomyomatosis (LAM) is a rare disease, of unknown etiology, affecting women
almost exclusively. Lung transplantation is the only consistently effective therapy for LAM …

Lymphangiomyomatosis (LAM) is characterized by the proliferation of abnormal smooth
muscle cells and cystic degeneration of the lung. LAM affects almost exclusively young …

It is not known whether mutations in the PKD1 gene cause autosomal dominant polycystic
kidney disease (PKD) by an activating (gain-of-function) or an inactivating (loss-of-function) …