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

Medicine & Life Sciences

• Hypocalciuric hypercalcemia, familial, type 2 100%
• Calcium-Sensing Receptors 58%
• Protein Subunits 50%
• Loss of Function Mutation 49%
• GTP-Binding Proteins 43%
• Adaptor Protein Complex Subunits 27%
• Hypocalciuric hypercalcemia, familial, type 1 24%
• Mutation 16%
• HEK293 Cells 15%
• Calcium 15%
• Gq-G11 GTP-Binding Protein alpha Subunits 11%
• Homeostasis 10%
• GTP-Binding Protein alpha Subunits 10%
• Clathrin 9%
• Confidence Intervals 8%
• GTP Phosphohydrolases 8%
• Hypercalcemia 8%
• Missense Mutation 7%
• Endocytosis 7%
• Parathyroid Hormone 7%
• G-Protein-Coupled Receptors 7%
• Minerals 7%
• Leukocytes 5%
• Flow Cytometry 5%
• Bone and Bones 4%
• DNA 4%
• Genes 2%

Chemistry

• Hypercalcemic 73%
• Mutation 37%
• Calcium(0) 12%
• Parathyroid Hormone 7%
• GDP 6%
• Cytometry 5%
• Disorder 4%
• Mineral 4%
• Flow 3%
• Protein 2%