Results 71 to 80 of about 15,419 (219)
Earlier in neurogenesis, knockdown of polycystin‐1 (PC1) expression increases the cell cycle length of neural progenitor cells (NPCs) by extending the S‐phase and probably lengthening the G1‐phase. Subsequently, reduced PC1 expression causes delayed cell cycle exit and delayed neuronal differentiation of NPCs.
Natalie Winokurow, Stefan Schumacher
wiley +1 more source
Background and objectives ADPKD is erroneously perceived as a not rare condition, which is mainly due to the repeated citation of a mistaken interpretation of old epidemiological data, as reported in the Dalgaard's work (1957).
A. Solazzo +11 more
semanticscholar +1 more source
ABSTRACT Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is the third most common inherited monogenic kidney disorder. Mutations in UMOD and MUC1 account for most cases, with the disease characterized by progressive eGFR decline leading to kidney failure. No disease‐modifying therapies exist, and transplantation is the only current option.
Shyam S. Ramesh +9 more
wiley +1 more source
Dietary Care for ADPKD Patients: Current Status and Future Directions
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic nephropathy, and tolvaptan is the only therapy available. However, tolvaptan slows but does not stop disease progression, is marred by polyuria, and most patients worldwide ...
Sol Carriazo +6 more
semanticscholar +1 more source
ABSTRACT Background Tolvaptan promotes electrolyte‐free water excretion and is widely used in Asia for ascites, but in Western countries its use is limited to hyponatremia because of hepatotoxicity concerns. Methods We performed a retrospective cohort study using the TriNetX Research Network, emulating a target trial of cirrhotic patients with ...
Kazuya Okushin +5 more
wiley +1 more source
Introduction Maintaining fluid intake sufficient to reduce arginine vasopressin (AVP) secretion has been hypothesised to slow kidney cyst growth in autosomal dominant polycystic kidney disease (ADPKD).
Annette T. Y. Wong +33 more
semanticscholar +1 more source
Extrarenal manifestations of ADPKD
A 47-year-old woman was evaluated in the Nephrology Clinic at New England Medical Center for autosomal dominant polycystic kidney disease (ADPKD). She had undergone abdominal and pelvic noncontrast computed tomographic scans for the evaluation of dyspareunia and stress incontinence.
openaire +2 more sources
Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene
A case of prenatal renal cystic disease and unilateral renal agenesis is reported. Molecular investigations including TRIO next‐generation sequencing analysis using the Clinical exome sequencing protocol identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene.
Adalgisa Cordisco +5 more
wiley +1 more source
Prioritization of novel ADPKD drug candidates from disease-stage specific gene expression profiles
Background Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common causes of end-stage renal failure, caused by mutations in PKD1 or PKD2 genes. Tolvaptan, the only drug approved for ADPKD treatment, results in serious side-effects,
Tareq B. Malas +8 more
semanticscholar +1 more source
LRP5 variants may contribute to ADPKD [PDF]
Mutations in Polycystic Kidney Disease proteins (PKD1 or PKD2) are causative for autosomal dominant polycystic kidney disease (ADPKD). However, a small subset of ADPKD probands do not harbor a mutation in any of the known genes. Low density lipoprotein Receptor-related Protein 5 (LRP5) was recently associated with hepatic cystogenesis in isolated ...
Cnossen, W.R. +11 more
openaire +5 more sources

