Results 171 to 180 of about 617,774 (332)

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

Kidney International, 2014
A. Ekici, Thomas Hackenbeck, V. Moriniére, Andrea Pannes, M. Buettner, S. Uebe, R. Janka, Antje Wiesener, I. Hermann, S. Grupp, M. Hornberger, T. Huber, N. Isbel, G. Mangos, S. McGinn, Daniela Soreth-Rieke, B. Beck, M. Uder, K. Amann, C. Antignac, A. Reis, K. Eckardt, M. Wiesener   +22 more
semanticscholar   +1 more source

Identification of drug repurposing candidates for the treatment of polycystic kidney disease

British Journal of Pharmacology, EarlyView.
Background and Purpose Autosomal dominant polycystic kidney disease (ADPKD) is a leading cause of end‐stage renal disease with limited treatment options. Drug repurposing offers a promising strategy to find effective treatments. Experimental Approach We identified birinapant, bardoxolone methyl and salicylic acid as repurposing candidates for ADPKD and
Alina Meyer, Paraskevi Sotiropoulou, Koussai Bouker, Dennis Svedberg, Rebekkah Hammar, Hester Bange, Per Larsson, André Mateus, Daniel R. Dietrich, Per Artursson   +9 more
wiley   +1 more source

Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation. [PDF]

Nephrology (Carlton)
Ito H, Mashiko S, Mizuno S, Kanomata Y, Yano K, Suzuki Y, Sato F, Tajima R, Anan G, Hirose T, Ishiyama K, Mori T.   +11 more
europepmc   +1 more source

EARLY DIAGNOSTIC AND PROGNOSTIC MARKERS OF CHRONIC KIDNEY DISEASE (CKD) IN CANINE AND FELINE PATIENTS

, 2011
SUMMARY Chronic kidney disease (CKD) is a clinical syndrome with a high prevalence both in human and veterinary medicine. Being able to formulate an early diagnosis of CKD can allow veterinarians to introduce a dietary and medical therapy, which can ...
LIPPI, ILARIA
core  

Vitamin D Supplementation to Prevent Post‐Thyroidectomy Hypocalcemia

Clinical Endocrinology, EarlyView.
ABSTRACT Objective Hypocalcemia is the most common complication following thyroidectomy. Previous studies yielded inconsistent results on whether vitamin D3 prevents postoperative hypocalcemia and were conducted in non‐European countries with different dietary habits and baseline vitamin D levels.
Jeresa I. A. Willems, Daan J. L. van Twist, Kristy M. Pickwell, Patrick L. H. van Battum, Rutgert Bianchi, Annette M. Pijnenburg, James van Bastelaar, Marco Medici, Robin P. Peeters, Roderick F.A. Tummers‐de Lind van Wijngaarden   +9 more
wiley   +1 more source

Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study. [PDF]

Clin J Am Soc Nephrol
Bozkurt EG, Sheikh Najeeb M, Yang H, Kemppainen JL, Smith BH, Gregory AV, Baker TA, Thompson WS, Khalifa M, Cruz C, Kouri AM, Tran CL, Sas DJ, Cramer CH, Dahl NK, Kline TL, Torres VE, Chebib FT, Harris PC, Hanna C.   +19 more
europepmc   +1 more source

Cystic kidney diseases [PDF]

Nephrology Dialysis Transplantation, 2013
M. Jankowska, A. Walerzak, A. Debska-Slizien, B. Rutkowski, V. Frank, E. Decker, N. Bachmann, T. Eisenberger, C. Decker, H. J. Bolz, C. Bergmann, B. Kurt, A. Paliege, C. Willam, I. Schwarzensteiner, K. Schucht, H. Neymeyer, M. L. S. Sequeira-Lopez, S. Bachmann, R. A. Gomez, K.-U. Eckardt, A. Kurtz, J. J. Bissler, B. Zonnenberg, M. Frost, E. Radzikowska, M. Sauter, N. Nonomura, P. de Vries, D. Lam, S. Miao, H. Cauwel, J. C. Kingswood   +32 more
openaire   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Adult renal lymphangioma misdiagnosed as a simple renal cyst: A case report. [PDF]

Urol Case Rep
Xiong F, Gong J, Li Y, Wang Y.
europepmc   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source