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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2006, Volume 103, Issue 33, pp. 12569 - 12574
Journal Article
Science, ISSN 0036-8075, 09/2018, Volume 361, Issue 6406, pp. 992 - 992
Mutations in two genes, PKD1 and PKD2, account for most cases of autosomal dominant polycystic kidney disease, one of the most common monogenetic disorders.... 
DOMAIN | PROTEIN | CHANNEL | GENE | POLYCYSTIC KIDNEY-DISEASE | MULTIDISCIPLINARY SCIENCES | IDENTIFICATION | EXPRESSION | PKD2 MUTATIONS | PRIMARY CILIA | INSIGHTS | Humans | Crystallography, X-Ray | Multiprotein Complexes - genetics | Protein Folding | TRPP Cation Channels - genetics | Polycystic Kidney, Autosomal Dominant - metabolism | Cryoelectron Microscopy | Multiprotein Complexes - ultrastructure | TRPP Cation Channels - chemistry | Multiprotein Complexes - chemistry | Polycystic Kidney, Autosomal Dominant - genetics | Protein Domains | TRPP Cation Channels - ultrastructure | Mutation | TRPP Cation Channels - metabolism | Genetic research | Human genetics | Research | Stoichiometry | Electric potential | Residues | Size exclusion chromatography | Calcium | Pathogenesis | Genes | Trafficking | Disorders | Mapping | Helices | Proteins | Transient receptor potential proteins | Voltage | Ion channels | Assembly | Cilia | Calcium release channels | Calcium (intracellular) | Kidneys | Architecture | Polycystic kidney | Channel gating | Polycystic kidney disease 1 protein | Electron microscopy | Epithelium | Calcium permeability | Domains | Organic chemistry | Polycystin-2 | Microscopy | Computer applications | Renal failure | Kidney diseases | Disruption | Lipoxygenase | Gene mapping | Endoplasmic reticulum | Cellular structure | Calcium (reticular) | Calcium ions | Stimuli
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 2302 - 14
PKD2 and PKD1 genes are mutated in human autosomal dominant polycystic kidney disease. PKD2 can form either a homomeric cation channel or a heteromeric complex... 
ELECTRON CRYOMICROSCOPY | DOMAIN | GENE | CRYOELECTRON MICROSCOPY | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | C-TERMINAL TAIL | PKD2 | CALCIUM-CHANNEL | TRANSIENT RECEPTOR | PRIMARY CILIA | Xenopus | Calcium Channels - metabolism | Allosteric Regulation | Humans | Zebrafish - embryology | Gene Knockdown Techniques | TRPP Cation Channels - chemistry | Polycystic Kidney, Autosomal Dominant - genetics | Female | Receptors, Cell Surface - chemistry | Calcium Channels - genetics | TRPP Cation Channels - metabolism | Recombinant Proteins - metabolism | Amino Acid Sequence | Zebrafish Proteins - antagonists & inhibitors | Carrier Proteins - antagonists & inhibitors | Models, Molecular | Receptors, Cell Surface - metabolism | Recombinant Proteins - chemistry | Recombinant Proteins - genetics | TRPP Cation Channels - genetics | Zebrafish - genetics | Polycystic Kidney, Autosomal Dominant - metabolism | Cryoelectron Microscopy | Carrier Proteins - genetics | Animals | Calcium Channels - chemistry | Zebrafish - metabolism | Hydrophobic and Hydrophilic Interactions | Protein Conformation | Mutation | Zebrafish Proteins - genetics | Ion Channel Gating | Receptors, Cell Surface - genetics | Phenotypes | Kidneys | Channel gating | Polycystic kidney | Zebrafish | Ion channels | Mechanical stimuli | Kidney diseases | Hydrophobicity | Electron microscopy | Embryos
Journal Article