SEC31A mutation affects ER homeostasis, causing neurological syndrome

Biochemistry, Genetics and Molecular Biology

• Homeostasis 100%
• CRISPR/Cas9 100%
• Endoplasmic Reticulum Stress 100%
• Fruit Fly 100%
• Genetics 50%
• Upregulation 50%
• Cell Viability 50%
• Nonsense-Mediated Decay 50%
• Quantitative Reverse Transcription Polymerase Chain Reaction 50%
• Linkage Analysis 50%
• Exome Sequencing 50%
• Autosomal Recessive Inheritance 50%
• Nonsense Mutation 50%
• Prenatal Growth 50%
• Cell Mutant 50%
• Eye Fixation 50%
• Magnetic Resonance Imaging 50%
• Optics 50%
• Immunoblotting 50%

Medicine and Dentistry

• Homeostasis 100%
• Neurologic Disease 100%
• Diseases 100%
• Endoplasmic Reticulum Stress 50%
• Clustered Regularly Interspaced Short Palindromic Repeat 50%
• Cas9 50%
• Upregulation 25%
• Cell Viability 25%
• Intrauterine Growth Retardation 25%
• Quantitative Reverse Transcription Polymerase Chain Reaction 25%
• Linkage Analysis 25%
• Endoplasmic reticulum 25%
• Epilepsy 25%
• Immunoblotting 25%
• Autosomal Recessive Inheritance 25%
• Sensorineural Hearing Loss 25%
• Nonsense Mutation 25%
• Exome Sequencing 25%
• Microcephaly 25%
• Developmental Delay 25%
• Optic Nerve Atrophy 25%
• Magnetic Resonance Imaging of Brain 25%
• Pseudobulbar Palsy 25%
• Contracture 25%
• Lethality 25%
• SH-SY5Y 25%
• Spastic Quadriplegia 25%
• Cell Mutant 25%
• Corpus Callosum Agenesis 25%
• Nonsense Mediated mRNA Decay 25%
• HEK293T Cell Line 25%
• Eye Fixation 25%
• Genetics 25%

Keyphrases

• Neurosensory Deafness 10%