Just as the discovery of 'inborn errors of metabolism'in humans contributed to our basic
understanding of normal enzymatic pathways, so can genetic defects in signal transduction …

Over the past 20 years, naturally occurring mutations that affect G protein-coupled receptors
(GPCRs) have been identified, mainly in patients with endocrine diseases. The study of loss …

Research on the structure, regulation and signalling properties of the family of seven-
transmembrane-helix, heterotrimeric guanine nucleotide-binding protein (G-protein) …

Heterotrimeric G proteins couple seven-transmembrane receptors for diverse extracellular
signals to effectors that generate intracellular signals altering cell function. Mutations in the …

G-protein-coupled receptors (GPCR) are involved in directly and indirectly controlling an
extraordinary variety of physiological functions. Their key roles in cellular communication …

The human genome encodes more than 700 G‐protein–coupled receptors (GPCR s), many
of which are involved in hormone secretion. To date, more than 100 gain‐of‐function …

G proteins and G-protein-coupled receptors (GPCRs) mediate the effects of a number of
hormones. Genes that encode these molecules are subject to loss-of function or gain-of …

G Proteins couple receptors for diverse extracellular signals to effecters such as enzymes
and ion channels. The majority of polypeptide hormones, all monoamine neurotransmitters …

There are approximately 800 annotated G protein–coupled receptor (GPCR) genes, making
these membrane receptors members of the most abundant gene family in the human …

Activating and inactivating mutations in numerous human G protein-coupled receptors
(GPCRs) are associated with a wide range of disease phenotypes. Here we use several …