Results 1 to 10 of about 1,339 (134)

Targeting interleukin‐1 for reversing fat browning and muscle wasting in infantile nephropathic cystinosis [PDF]

Journal of Cachexia, Sarcopenia and Muscle, 2021
Background Ctns−/− mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting.
Hal M Hoffman, Robert H Mak
exaly   +10 more sources

Vitamin D repletion ameliorates adipose tissue browning and muscle wasting in infantile nephropathic cystinosis‐associated cachexia [PDF]

Journal of Cachexia, Sarcopenia and Muscle, 2020
Background Ctns−/− mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting. Ctns−/− mice are 25(OH)D3 and 1,25(OH)2D3 insufficient.
Wei Ding, Ping Zhou, Shiping Li
exaly   +6 more sources

Leptin signalling altered in infantile nephropathic cystinosis‐related bone disorder [PDF]

Journal of Cachexia, Sarcopenia and Muscle
Background The CTNS gene mutation causes infantile nephropathic cystinosis (INC). Patients with INC develop Fanconi syndrome and chronic kidney disease (CKD) with significant bone deformations.
Wai W. Cheung, Ping Zhou, Ronghao Zheng, Arieh Gertler, Eduardo A. Oliveira, Robert H. Mak   +5 more
doaj   +5 more sources

Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study [PDF]

Frontiers in Medicine, 2022
BackgroundInfantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder resulting in progressive chronic kidney disease (CKD) and a variety of extrarenal manifestations.
Nina O'Connell, Jun Oh, Klaus Arbeiter, Anja Büscher, Dieter Haffner, Jessica Kaufeld, Christine Kurschat, Christoph Mache, Dominik Müller, Ludwig Patzer, Lutz T. Weber, Burkhard Tönshoff, Marcus Weitz, Katharina Hohenfellner, Lars Pape, Lars Pape   +15 more
doaj   +5 more sources

Ocular Involvement in Patients with Infantile Nephropathic Cystinosis [PDF]

Türk Oftalmoloji Dergisi
Cystinosis is a rare autosomal recessive lysosomal storage disease associated with high mortality and morbidity rates. The most distinctive ocular manifestations of cystinosis are photophobia, tearing, and blurred vision.
Sema Üzüm, Ayşe Bozkurt Oflaz, Sadagat Guluzade, Emine Tınkır Kayıtmazbatır, Banu Bozkurt   +4 more
doaj   +5 more sources

A Leptin Receptor Antagonist Attenuates Adipose Tissue Browning and Muscle Wasting in Infantile Nephropathic Cystinosis-Associated Cachexia [PDF]

Cells, 2021
Mice lacking the functional cystinosin gene (Ctns−/−), a model of infantile nephropathic cystinosis (INC), exhibit the cachexia phenotype with adipose tissue browning and muscle wasting.
Alex Gonzalez, Wai W. Cheung, Elliot A. Perens, Eduardo A. Oliveira, Arieh Gertler, Robert H. Mak   +5 more
doaj   +5 more sources

Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts [PDF]

Cells, 2022
Cystinosis Metabolic Bone Disease (CMBD) has emerged during the last decade as a well-recognized, long-term complication in patients suffering from infantile nephropathic cystinosis (INC), resulting in significant morbidity and impaired quality of life ...
Dieter Haffner, Maren Leifheit-Nestler, Candide Alioli, Justine Bacchetta   +3 more
doaj   +5 more sources

Metabolic Advantage of 25(OH)D₃ versus 1,25(OH)₂D₃ Supplementation in Infantile Nephropathic Cystinosis-Associated Adipose Tissue Browning and Muscle Wasting [PDF]

Cells, 2022
Manifestations of infantile nephropathic cystinosis (INC) often include cachexia and deficiency of circulating vitamin D metabolites. We examined the impact of 25(OH)D3 versus 1,25(OH)2D3 repletion in Ctns null mice, a mouse model of INC.
Ping Zhou, Wai W. Cheung, Alex Gonzalez, Venya Vaddi, Eduardo A. Oliveira, Robert H. Mak   +5 more
doaj   +5 more sources

Neuroretinal structure changes in infantile nephropathic cystinosis [PDF]

Orphanet Journal of Rare Diseases
Background The aim of this study was to investigate the neuroretinal structure of patients with the lysosomal storage disease cystinosis. Methods In this retrospective cross-sectional analysis, optical coherence tomography (OCT) was used to measure the ...
Leonie Franziska Keidel, Neringa Jurkute, Benedikt Schworm, Katharina Hohenfellner, Siegfried Priglinger, Axel Petzold, Claudia Priglinger   +6 more
doaj   +5 more sources

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report [PDF]

BMC Nephrology, 2019
Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina   +7 more
doaj   +5 more sources