Membrane cofactor protein (MCP; CD46) is a widely expressed transmembrane complement
regulator. Like factor H it inhibits complement activation by regulating C3b deposition on …

Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1% (refs. 1 , 2 ). Despite
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …

Börjeson–Forssman–Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate
to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with …

The aim of this study was to evaluate the spectrum of muscle involvement on Magnetic
Resonance Imaging (MRI) in patients with collagen VI related disorders. Nineteen patients with …

Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …

The extracellular signal–related kinases 1 and 2 (ERK1/2) are key proteins mediating
mitogen-activated protein kinase signaling downstream of RAS: phosphorylation of ERK1/2 leads …

ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans,
postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), …

Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by
cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and …

Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause
Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two related …

Inherited erythromelalgia (IEM) causes debilitating episodic neuropathic pain characterized
by burning in the extremities. Inherited "paroxysmal extreme pain disorder" (PEPD) differs in …