SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

Biochemistry, Genetics and Molecular Biology

• Exome Sequencing 100%
• Paralogy 100%
• Ion Transporter 100%
• Stem Cell 50%
• Real-Time Polymerase Chain Reaction 50%
• Protein Function 50%
• Genetic Divergence 50%
• Homeostasis 50%
• Cell Fate 50%
• Orthology 50%
• Ion Transport 50%
• Xenopus 50%
• Gene Linkage 50%
• SLC12A7 50%
• SLC12A6 50%
• K Cl- Cotransporter 50%

Keyphrases

• Ion Transporters 100%
• Congenital Hydrocephalus 100%
• SLC12A 100%
• KCC3 36%
• Etiology 18%
• Whole Exome Sequencing 18%
• Copy number Variation 18%
• Cerebrospinal Fluid 9%
• Protein Function 9%
• Sporadic Form 9%
• Family Members 9%
• Protein Expression 9%
• Quantitative PCR 9%
• Binding Partners 9%
• Recent Advances 9%
• Orthologs 9%
• Ion Transport 9%
• Bona Fide 9%
• Multiplex 9%
• Targeted Sequencing 9%
• Xenopus Oocytes 9%
• Sequencing Studies 9%
• Kindred 9%
• K+ Transport 9%
• Aqueductal Stenosis 9%
• Fluid Homeostasis 9%
• Rare Genetic Variants 9%
• L1 Cell Adhesion Molecule (L1CAM) 9%
• Mutation Impact 9%
• K-Cl Cotransporter 9%
• Genetically Encoded 9%
• Multigenerational Families 9%
• Damaging mutations 9%
• SLC12A6 9%
• Neural Stem Cell Fate 9%
• Mutation-negative 9%
• Enlarged Brain Ventricles 9%
• KCC4 9%
• Familial Form 9%

Neuroscience

• Hydrocephalus 100%
• Exome Sequencing 18%
• Protein Expression 9%
• Real-Time Polymerase Chain Reaction 9%
• Ion Transport 9%
• Cell Fate 9%
• Stenosis 9%
• Neural Stem Cell 9%
• Cerebral Ventricle 9%
• Protein Function 9%
• Potassium Chloride Cotransporter 9%
• Genetics 9%