Found: 49
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Involvement of selective autophagy mediated by p62/SQSTM1 in KLHL3-dependent WNK4 degradation.
- Published in:
- Biochemical Journal, 2015, v. 472, n. 1, p. 33, doi. 10.1042/BJ20150500
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- Publication type:
- Article
Chemical library screening for WNK signalling inhibitors using fluorescence correlation spectroscopy.
- Published in:
- Biochemical Journal, 2013, v. 455, n. 3, p. 339, doi. 10.1042/BJ20130597
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- Publication type:
- Article
Absence of ULK1 decreases AMPK activity in the kidney, leading to chronic kidney disease progression.
- Published in:
- Genes to Cells, 2023, v. 28, n. 1, p. 5, doi. 10.1111/gtc.12989
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- Publication type:
- Article
High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 471, doi. 10.1002/ajmg.a.38053
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- Publication type:
- Article
Different Clinical Courses of Nephronophthisis in Dizygotic Twins.
- Published in:
- Internal Medicine, 2023, v. 62, n. 1, p. 87, doi. 10.2169/internalmedicine.8707-21
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- Publication type:
- Article
A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype.
- Published in:
- Internal Medicine, 2021, v. 60, n. 18, p. 2991, doi. 10.2169/internalmedicine.6987-20
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- Publication type:
- Article
Structural Development of Salicylanilide‐Based SPAK Inhibitors as Candidate Antihypertensive Agents.
- Published in:
- ChemMedChem, 2021, v. 16, n. 18, p. 2817, doi. 10.1002/cmdc.202100273
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- Publication type:
- Article
Loop diuretics affect skeletal myoblast differentiation and exercise-induced muscle hypertrophy.
- Published in:
- Scientific Reports, 2017, p. 46369, doi. 10.1038/srep46369
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- Publication type:
- Article
Generation of NPHP1 knockout human pluripotent stem cells by a practical biallelic gene deletion strategy using CRISPR/Cas9 and ssODN.
- Published in:
- In Vitro Cellular & Developmental Biology Animal, 2022, v. 58, n. 2, p. 85, doi. 10.1007/s11626-022-00655-0
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- Publication type:
- Article
Takayasu arteritis manifesting as acute kidney injury and congestion due to renal artery stenosis and myocarditis: a case report.
- Published in:
- European Heart Journal Case Reports, 2024, v. 8, n. 8, p. 1, doi. 10.1093/ehjcr/ytae347
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- Publication type:
- Article
NCC regulation by WNK signal cascade.
- Published in:
- Frontiers in Physiology, 2023, v. 13, p. 1, doi. 10.3389/fphys.2022.1081261
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- Publication type:
- Article
Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Burden of kidney disease on the discrepancy between reasons for hospital admission and death: An observational cohort study.
- Published in:
- PLoS ONE, 2021, v. 16, n. 11, p. 1, doi. 10.1371/journal.pone.0258846
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- Publication type:
- Article
WNK4 is the major WNK positively regulating NCC in the mouse kidney.
- Published in:
- Bioscience Reports, 2014, v. 34, n. 3, p. 195, doi. 10.1042/BSR20140047
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- Publication type:
- Article
Thrombocytopenia during avacopan administration: A case report.
- Published in:
- International Journal of Rheumatic Diseases, 2023, v. 26, n. 8, p. 1603, doi. 10.1111/1756-185X.14645
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- Publication type:
- Article
Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific?
- Published in:
- 2021
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- Publication type:
- journal article
Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report.
- Published in:
- 2020
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- Publication type:
- journal article
SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome—the Myhre syndrome.
- Published in:
- GeroScience, 2021, v. 43, n. 3, p. 1481, doi. 10.1007/s11357-020-00318-6
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- Publication type:
- Article
Echocardiographic Findings and Genotypes in Autosomal Dominant Polycystic Kidney Disease.
- Published in:
- Kidney Diseases, 2022, v. 8, n. 3, p. 246, doi. 10.1159/000520300
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- Publication type:
- Article
Tolvaptan activates the Nrf2/HO-1 antioxidant pathway through PERK phosphorylation.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-45539-8
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- Publication type:
- Article
Sodium–calcium exchanger 1 is the key molecule for urinary potassium excretion against acute hyperkalemia.
- Published in:
- PLoS ONE, 2020, v. 15, n. 6, p. 1, doi. 10.1371/journal.pone.0235360
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- Publication type:
- Article
A Novel LMX1B Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane.
- Published in:
- Nephron, 2021, v. 145, n. 6, p. 776, doi. 10.1159/000518423
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- Publication type:
- Article
PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 2, p. 336, doi. 10.1002/ccr3.1947
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- Publication type:
- Article
LRBA signalosomes activate vasopressin‐induced AQP2 trafficking at recycling endosomes.
- Published in:
- Journal of Physiology, 2023, v. 601, n. 23, p. 5437, doi. 10.1113/JP285188
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- Publication type:
- Article
A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis.
- Published in:
- 2016
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- Publication type:
- Case Study
Familial cases of pseudohypoaldosteronism type II harboring a novel mutation in the Cullin 3 gene.
- Published in:
- Nephrology, 2020, v. 25, n. 11, p. 818, doi. 10.1111/nep.13752
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- Publication type:
- Article
Complete clinical resolution of a Japanese family with renal pseudohypoaldosteronism type 1 due to a novel NR3C2 mutation.
- Published in:
- Nephrology, 2019, v. 24, n. 4, p. 489, doi. 10.1111/nep.13391
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- Publication type:
- Article
Wnt5a induces renal AQP2 expression by activating calcineurin signalling pathway.
- Published in:
- Nature Communications, 2016, v. 7, n. 11, p. 13636, doi. 10.1038/ncomms13636
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- Publication type:
- Article
A case of unexpected diagnosis of fibronectin glomerulopathy with histological features of membranoproliferative glomerulonephritis.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Rapidly progressive IgA nephropathy with membranoproliferative glomerulonephritis-like lesions in an elderly man following the third dose of an mRNA COVID-19 vaccine: a case report.
- Published in:
- BMC Nephrology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12882-023-03169-3
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- Publication type:
- Article
A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.705
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- Publication type:
- Article
Impaired degradation of WNK1 and WNK4 kinases causes PHAII in mutant KLHL3 knock-in mice.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 19, p. 5052, doi. 10.1093/hmg/ddu217
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- Publication type:
- Article
Everolimus Reduces the Size of Tuberous Sclerosis Complex-Related Huge Renal Angiomyolipomas Exceeding 20 cm in the Longest Diameter.
- Published in:
- Case Reports in Oncology, 2018, v. 11, n. 2, p. 258, doi. 10.1159/000488704
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- Publication type:
- Article
Deletion of Alox15 improves kidney dysfunction and inhibits fibrosis by increased PGD2 in the kidney.
- Published in:
- Clinical & Experimental Nephrology, 2021, v. 25, n. 5, p. 445, doi. 10.1007/s10157-021-02021-y
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- Publication type:
- Article
Decreased KLHL3 expression is involved in the pathogenesis of pseudohypoaldosteronism type II caused by cullin 3 mutation in vivo.
- Published in:
- Clinical & Experimental Nephrology, 2018, v. 22, n. 6, p. 1251, doi. 10.1007/s10157-018-1593-z
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- Publication type:
- Article
Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel.
- Published in:
- Clinical & Experimental Nephrology, 2017, v. 21, n. 1, p. 63, doi. 10.1007/s10157-016-1252-1
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- Publication type:
- Article
A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00221-w
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- Publication type:
- Article
Genetics May Predict Effectiveness of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Genotype-Clinical Correlations in Polycystic Kidney Disease with No Apparent Family History.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.
- Published in:
- Clinical Pediatric Endocrinology, 2022, v. 31, n. 1, p. 44, doi. 10.1297/cpe.2021-0029
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- Publication type:
- Article
Non-urate transporter 1, non-glucose transporter member 9-related renal hypouricemia and acute renal failure accompanied by hyperbilirubinemia after anaerobic exercise: a case report.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood.
- Published in:
- Human Mutation, 2021, v. 42, n. 3, p. 300, doi. 10.1002/humu.24159
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- Publication type:
- Article
<italic>ERCC4</italic> variants identified in a cohort of patients with segmental progeroid syndromes.
- Published in:
- Human Mutation, 2018, v. 39, n. 2, p. 255, doi. 10.1002/humu.23367
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- Publication type:
- Article
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
- Published in:
- Human Mutation, 2017, v. 38, n. 1, p. 7, doi. 10.1002/humu.23128
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- Publication type:
- Article
Short-term prognosis of emergently hospitalized dialysis-independent chronic kidney disease patients: A nationwide retrospective cohort study in Japan.
- Published in:
- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0208258
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- Publication type:
- Article
Removal Characteristics of Immunoadsorption with the Tryptophan‐Immobilized Column Using Conventional and Selective Plasma Separators in the Treatment of Myasthenia Gravis.
- Published in:
- Therapeutic Apheresis & Dialysis, 2019, v. 23, n. 3, p. 271, doi. 10.1111/1744-9987.12820
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- Publication type:
- Article
Removal Dynamics of Autoantibodies, Immunoglobulins, and Coagulation Factors by Selective Plasma Exchange on Three Consecutive Days.
- Published in:
- Therapeutic Apheresis & Dialysis, 2018, v. 22, n. 3, p. 255, doi. 10.1111/1744-9987.12692
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- Publication type:
- Article
ZNF185 prevents stress fiber formation through the inhibition of RhoA in endothelial cells.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-04416-x
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- Publication type:
- Article
Impact of COVID-19 versus other pneumonia on in-hospital mortality and functional decline among Japanese dialysis patients: a retrospective cohort study.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-55697-z
- By:
- Publication type:
- Article