A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects

(2015) Fadil M. Hannan et al.   HUMAN MOLECULAR GENETICS

Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused byAP2S1Mutation

(2015) Sirpa Tenhola et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Universal allosteric mechanism for Gα activation by GPCRs

(2015) Tilman Flock et al.   NATURE

Probing Gαi1 protein activation at single–amino acid resolution

(2015) Dawei Sun et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Probing Gαi1 protein activation at single–amino acid resolution

(2015) Dawei Sun et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation inGNA11: Phenotypic and Molecular Characterization

(2014) Dong Li et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Codon Arg15 Mutations of theAP2S1Gene: Common Occurrence in Familial Hypocalciuric Hypercalcemia Cases Negative for Calcium-Sensing Receptor (CASR) Mutations

(2014) Geoffrey N. Hendy et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Diagnosis of Asymptomatic Primary Hyperparathyroidism: Proceedings of the Fourth International Workshop

(2014) Richard Eastell et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism

(2013) Fadil M. Hannan et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Molecular Basis of Cannabinoid CB1 Receptor Coupling to the G Protein Heterotrimer Gαiβγ

(2013) Joong-Youn Shim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification ofAP2S1Mutation and Effects of Low Calcium Formula in an Infant With Hypercalcemia and Hypercalciuria

(2013) Yasuko Fujisawa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Claudin-14 Underlies Ca++-Sensing Receptor-Mediated Ca++ Metabolism via NFAT-microRNA-Based Mechanisms

(2013) Y. Gong et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Germline Mutations Affecting Gα11 in Hypoparathyroidism

(2013) Michael Mannstadt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia

(2013) M. Andrew Nesbit et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutant Prolactin Receptor and Familial Hyperprolactinemia

(2013) Paul J. Newey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

(2012) F. M. Hannan et al.   HUMAN MOLECULAR GENETICS

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

(2012) M Andrew Nesbit et al.   NATURE GENETICS

A P-loop Mutation in Gα Subunits Prevents Transition to the Active State: Implications for G-protein Signaling in Fungal Pathogenesis

(2012) Dustin E. Bosch et al.   PLoS Pathogens

Structure-Function Relationships of the G Domain, a Canonical Switch Motif

(2011) Alfred Wittinghofer et al.   Annual Review of Biochemistry

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

The Regulation of Parathyroid Hormone Secretion and Synthesis

(2010) R. Kumar et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Structural basis for the specific inhibition of heterotrimeric Gq protein by a small molecule

(2010) A. Nishimura et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Parathyroid-specific interaction of the calcium-sensing receptor and Gαq

(2008) Min Pi et al.   KIDNEY INTERNATIONAL

Heterotrimeric G protein activation by G-protein-coupled receptors

(2007) William M. Oldham et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY