ArticleAmerican journal of physiology. Renal physiology2016
Renal phenotype in Bardet-Biedl syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion.
Article in American journal of physiology. Renal physiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook.Therapeutics and clinical risk management · 2023Review
- Article
- Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet-Biedl Syndrome.International journal of molecular sciences · 2022Article
- Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Brain dysfunction in tubular and tubulointerstitial kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Review
- Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.Journal of nephrology · 2021Article
- Diffusion tensor imaging for the study of early renal dysfunction in patients affected by bardet-biedl syndrome.Scientific reports · 2021Article
- Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.Clinical kidney journal · 2021Article
- Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet-Biedl Syndrome.Kidney international reports · 2020Review
- Cellular and subcellular localization of uncoupling protein 2 in the human kidney.Journal of molecular histology · 2018Article
- Integrin Beta 1 Is Crucial for Urinary Concentrating Ability and Renal Medulla Architecture in Adult Mice.Frontiers in physiology · 2018Article
- The importance of the thick ascending limb of Henle's loop in renal physiology and pathophysiology.International journal of nephrology and renovascular disease · 2018Review
- The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect.Kidney diseases (Basel, Switzerland) · 2017Review
- Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.BMC medical genetics · 2017Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
Abstract
The renal phenotype in Bardet-Biedl syndrome (BBS) is highly variable. The present study describes renal findings in 41 BBS patients and analyzes the pathogenesis of hyposthenuria, the most common renal dysfunction. Five of 41 patients (12%) showed an estimated glomerular filtration rate < 60 ml·min
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Registered trials
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