Human disorders of hereditary and nonhereditary heterotopic ossification are conditions in
which osteogenesis occurs outside of the skeleton, within soft tissues of the body. The …

The original paradigm of classical-also referred to as canonical-cellular signal transduction
of heterotrimeric G proteins (G protein) is defined by a hierarchical, orthograde interaction of …

Context: GNAS encodes the α-subunit of the stimulatory G protein as well as additional
imprinted transcripts including the maternally expressed NESP55 and the paternally …

The heterotrimeric G protein subunit Gsα stimulates cAMP-dependent signaling downstream
of G protein–coupled receptors. In this study, we set out to determine the role of Gsα …

Ribosomal frameshifting during the translation of RNA is implicated in human disease and
viral infection. While previous work has uncovered many details about single RNA …

Context Patients with pseudohypoparathyroidism type 1b (PHP1b) show disordered
imprinting of the maternal GNAS allele or paternal uniparental disomy (UPD). Genetic …

The GNAS locus on chromosome 20q13. 11 is the archetypal complex imprinted locus. It
comprises a bewildering array of alternative transcripts determined by differentially imprinted …

Progressive osseous heteroplasia (POH) and fibrous dysplasia (FD) are genetic diseases of
bone formation at opposite ends of the osteogenic spectrum: imperfect osteogenesis of the …

Patients with McCune–Albright syndrome (MAS), characterized primarily by hyperpigmented
skin lesions, precocious puberty, and fibrous dyslasia of bone, carry postzygotic …

Poor-prognosis oestrogen receptor-positive breast cancer is characterised by the presence
of high-level focal amplifications. We utilised a focused small interfering RNA screen in 14 …