Rare inherited kidney diseases: challenges, opportunities, and perspectives.
about
Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best PracticeThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesCommon variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine.Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Exploring the genetic basis of early-onset chronic kidney disease.Targeting gene expression to specific cells of kidney tubules in vivo, using adenoviral promoter fragments.Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression ConsortiumTechniques and Approaches to Genetic Analyses in Nephrological Disorders.Chronic kidney disease in children.Generation of nephron progenitor cells and kidney organoids from human pluripotent stem cells.Chloride transporters and receptor-mediated endocytosis in the renal proximal tubule.Kidney Organoids: A Translational Journey.Urinary proteomics for the study of genetic kidney diseases.Kidney disease in children: latest advances and remaining challenges.Ion transport in the zebrafish kidney from a human disease angle: possibilities, considerations, and future perspectives.Clinical Manifestation and Management of ADPKD in Western Countries.Crystal nephropathies: mechanisms of crystal-induced kidney injury.The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.The DESCARTES-Nantes survey of kidney transplant recipients displaying clinical operational tolerance identifies 35 new tolerant patients and 34 almost tolerant patients.Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.Effect of tolvaptan on renal handling of water and sodium, GFR and central hemodynamics in autosomal dominant polycystic kidney disease during inhibition of the nitric oxide system: a randomized, placebo-controlled, double blind, crossover study.Developmental Origins for Kidney Disease Due to Shroom3 Deficiency.Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomicsThe 1000 Genomes Project: Welcome to a New World.Genomic medicine for kidney disease.The UMOD Locus: Insights into the Pathogenesis and Prognosis of Kidney Disease.Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes.A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney.A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome.Genotypic and phenotypic predictors of inflammation in patients with chronic kidney disease.Variable phenotypic presentations of renal involvement in Fabry disease: a case series.Usefulness of preoperative ultrasonographic localization for diagnosis of a rare disease: Intrathyroid parathyroid lesions.Applications of kidney organoids derived from human pluripotent stem cells.
P2860
Q26767011-891A01D8-9413-42B2-BFD7-BF89AC858CD3Q27014740-380AF08C-1880-4521-9A9C-25166DDB1806Q30240207-58D0B5DD-A592-45A1-BA4B-8FC2FACD3308Q34467747-32F9F35E-ED79-416F-9CA4-0F8D8048A7D0Q34508359-C3934E0A-7F12-4697-8F84-A836A5EB3928Q36295324-587C2D6E-B71A-4274-B847-40E20CF96CA4Q36741767-C86006CD-4DA3-45A5-B3BD-8F75763FB196Q36790970-8CD785BD-2E2B-45DD-BB0F-31B2E65B124AQ37032666-117CA24B-3E97-45C4-A730-49FA2A200F79Q37119068-B2A5CDA3-7136-44D0-A14E-2387CF9257E9Q37613263-5EAB6946-B1BC-4E8D-808A-515889DAF51AQ38395172-F59382A5-A238-4F21-888F-9C52182D6731Q38558317-37BDA26E-66C8-4B87-B3F8-B6451864A43EQ38677349-8B487812-801A-4574-AA9E-E39952395645Q38718548-537D021E-E6B7-48C3-A028-5BEA3285BCE5Q38794766-A03C5044-11C6-4B51-BE68-9570F8D1B215Q39030254-1FAFE600-B348-429C-BD69-27415026BBA2Q39144172-93888D3D-6DC2-46E9-8F31-4DFE2C4DC026Q39410095-A610A2AE-B43B-4842-9023-AA00BE2B3D32Q40111285-79897771-67DD-430C-ABB5-DE187CF8ACB7Q40134038-D8E90CB2-7D36-4741-9F6B-F0B2859FE59DQ41431126-EDC72752-EABB-45F7-9EBB-14F0FB4FCD0DQ41645554-D7AA78C9-1855-4557-B07B-BBC607B2519FQ42368363-0A9E6535-A15D-4C58-A424-C72058B170ABQ45193947-8E3C173B-EE47-4FF7-992B-B43BC9B93550Q47200436-7037F612-8D32-4EC3-8AD5-7D91FBB403FDQ47359091-06B1626B-1BCC-4AE0-9BC1-F73D957BD0E1Q47577082-A83B20A2-9B37-49CE-AA93-E1FDE2F90D67Q47800870-856212B5-AE4C-4956-8C38-AD56C54210D0Q48263283-650315FA-9484-444B-8FDA-463B8E1E10B2Q51151673-C78B90AB-0F7F-4702-B5B9-3BBB07B40165Q51327691-7CC2F123-F99E-435E-A474-A842BC67DC80Q54945741-7EE4D2E4-8F65-4BAD-B902-34E176FA4644Q55286293-5E400293-3230-4B3A-8C4C-029CD4043791Q55426316-2239C0AA-742E-4FF9-9450-E77C8243AFE7
P2860
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
@ast
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
@en
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
@nl
type
label
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
@ast
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
@en
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
@nl
prefLabel
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
@ast
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
@en
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
@nl
P2093
P2860
P1433
P1476
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
@en
P2093
Board of the Working Group for ...... sis and Transplant Association
Franz Schaefer
Nine V A M Knoers
P2860
P304
P356
10.1016/S0140-6736(14)60659-0
P407
P577
2014-05-01T00:00:00Z