Background Caspase activation and recruitment domain 11 (CARD11) encodes a scaffold
protein in lymphocytes that links antigen receptor engagement with downstream signaling to …

Myopathy is the main adverse effect of the widely prescribed statin drug class. Statins exert
their beneficial effect by inhibiting HMG CoA-reductase, the rate-controlling enzyme of the …

Valvular heart disease is observed in approximately 2% of the general population. Although
the initial observation is often localized (for example, to the aortic or mitral valve), disease …

Moyamoya disease, a cerebrovascular disease leading to strokes in children and young
adults, is characterized by progressive occlusion of the distal internal carotid arteries and the …

Neuronal TDP-43-positive inclusions are neuropathological hallmark lesions in
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic …

Left-ventricular outflow tract obstructions (LVOTO) encompass a wide spectrum of
phenotypically heterogeneous heart malformations which frequently cluster in families. We …

Linkage analysis combined with whole-exome sequencing in a large family with congenital
and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a …

Studies of ciliopathies have served in elucidating much of our knowledge of structure and
function of primary cilia. We report humans with Bardet-Biedl syndrome who display …

Abstract Birt–Hogg–Dubé syndrome (BHD) is an autosomal dominant disorder
characterized by fibrofolliculomas, pulmonary cysts, pneumothoraces and renal cell …

Insufficient thyroid hormone production in newborns is referred to as congenital
hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland with …