COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

Keyphrases

• Loss Function 100%
• Developmental Delay 100%
• Osteoporosis 100%
• COPB2 100%
• Golgi 66%
• Endoplasmic Reticulum 50%
• Coatomer 50%
• Fibroblasts 33%
• Zebrafish 33%
• Mouse Embryonic Fibroblasts 33%
• Collagen Secretion 33%
• Electron Microscopy 16%
• Collagen 16%
• Central Nervous System 16%
• Endoplasmic Reticulum Stress (ER stress) 16%
• Gain-of-function mutation 16%
• Vacuole 16%
• Human Cells 16%
• Pathogenic Variants 16%
• Type II Collagen 16%
• Multisystem Disease 16%
• Small Interfering RNA (siRNA) 16%
• Zebrafish Embryo 16%
• Type I Collagen 16%
• Haploinsufficiency 16%
• Potential Therapeutics 16%
• Rough Endoplasmic Reticulum 16%
• Bone Biology 16%
• Osteoporotic Fractures 16%
• Lethality 16%
• Skeletal Homeostasis 16%
• Intracellular Trafficking 16%
• Cellular Phenotype 16%
• Acid Treatment 16%
• Variable Severity 16%
• Ascorbic Acid 16%
• Low Bone Mass 16%
• Subcellular Organelles 16%
• Granular Materials 16%
• Complex Function 16%
• Developmental Phenotype 16%
• Trafficking Defect 16%
• Collagen Disorganization 16%
• Fracture Delay 16%

Biochemistry, Genetics and Molecular Biology

• Fibroblast 100%
• Zebra Fish 75%
• Coatomer 75%
• Secretion (Process) 50%
• Small Interfering RNA 25%
• Endoplasmic Reticulum Stress 25%
• Homeostasis 25%
• Bone Mass 25%
• Electron Microscopy 25%
• Type II Collagen 25%
• Type I Collagen 25%
• Haploinsufficiency 25%
• Intracellular Trafficking 25%
• Ascorbic Acid 25%