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JOURNAL OF CELL SCIENCE, ISSN 0021-9533, 06/2018, Volume 131, Issue 11, pp. jcs220723 - jcs220723
First Person is a series of interviews with the first authors of a selection of papers published in Journal of Cell Science, helping early-career researchers... 
CELL BIOLOGY | Careers | Polycystin-2 | Pathogenesis | Colleges & universities
Journal Article
Journal of Physiology, ISSN 0022-3751, 2019
The left-right organizer (LRO) in the mouse consists of pit cells (blue) within the depression and crown cells (grey) lining the outer periphery. Cilia on pit... 
Calcium signalling | embryonic node | flow sensing | polycystin | primary cilia
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 6, pp. 1425 - 1434
Autosomal dominant polycystic kidney disease (ADPKD) is a common adult-onset monogenic disorder, with prevalence of 1/1000. Population databases including ExAC... 
ADPKD | exome sequencing | PKD2 | PKD1 | variant interpretation
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 10/2019
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 2018, Volume 33, Issue 8, pp. 1310 - 1316
Autosomal dominant polycystic kidney disease ( ADPKD) is the most common inherited cause of end-stage renal failure. Understanding the molecular and cellular... 
pathogenesis | treatment | ADPKD | PKD2 | polycystic kidney disease | PKD1 | SIGNALING PATHWAYS | OXIDATIVE STRESS | OXIDANT STRESS | MIGRATION INHIBITORY FACTOR | REDUCES CYSTOGENESIS | AUTOPHAGY | MODEL | PRIMARY-CILIUM | TRANSPLANTATION | IN-VITRO | UROLOGY & NEPHROLOGY | CYST GROWTH
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
Nephrology, Dialysis, Transplantation, ISSN 0931-0509, 04/2018, Volume 33, Issue 4, pp. 645 - 652
Background: The PROPKD score has been proposed to stratify the risk of progression to end-stage renal disease in autosomal dominant polycystic kidney disease... 
DESIGN | ADPKD | GENE | VOLUME | TOLVAPTAN | MUTATIONS | MOLECULAR DIAGNOSTICS | IDENTIFICATION | PKD1 | Journal Article | TEMPO 3/4 | genetics | autosomal dominant polycystic kidney disease | PKD2 | TRANSPLANTATION | UROLOGY & NEPHROLOGY | Life Sciences | Immunology | TEMPO 3 | ORIGINAL ARTICLES
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 2019, Volume 64, Issue 5, pp. 409 - 419
Autosomal Dominant Polycystic Kidney Disease (ADPKD) accounts for 2.6% of the patients with chronic kidney disease in India. ADPKD is caused by pathogenic... 
MUTATION ANALYSIS | DISEASE | GENETICS & HEREDITY | SEQUENCE VARIANTS | DOMINANT POLYCYSTIC KIDNEY | AUTOSOMAL-DOMINANT | SEVERITY | MANIFESTATIONS | HISTORY
Journal Article
Cellular Signalling, ISSN 0898-6568, 12/2019, p. 109490
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