Results 41 to 50 of about 9,272 (239)

Immunofluorescent Examination of Biopsies from Long-Term Renal Allografts [PDF]

, 1970
Immunofluorescent examination of open renal biopsies revealed clear-cut glomerular localization of immunoglobulins not related clearly to the quality of donor-recipient histocompatibility in 19 of 34 renal allografts.
Busch, Edgington, F. J. Dixon, J. J. McPhaul, L. Brettschneider, Peterson, Porter, Porter, Starzl, T. E. Starzl   +9 more
core   +1 more source

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

Ophthalmology and Therapy, 2018
Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000–200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with ...
Susmito Biswas, Martha Gaviria, Luísa Malheiro, João Pedro Marques, Vincenzo Giordano, Hong Liang   +5 more
doaj   +1 more source

Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis

Orphanet Journal of Rare Diseases, 2022
Background Cystinosis is a rare autosomal recessive lysosomal storage disease, associated with high morbidity and mortality. Mutations in the CTNS gene disable a membrane protein responsible for the transport of cystine out of the lysosome.
E. Hector, D. Cairns, G. Michael Wall
semanticscholar   +1 more source

Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation [PDF]

, 2014
Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures
Amin R, Andrea Venerando, Angela Sepe, Anil Mehta, Anna Bossi, Anna Zolin, Antonella Tosco, Boyle MP BS, Carlo A Leone, Daniela De Stefano, Donaldson S., Fabiola De Gregorio, Fischer H, Gianni Bona, Gibson LE, Giuseppe De Rosa, Guido Kroemer, Illek B, Jayaraman S, Kerem B, Kerem Eithan HMO, Laura Salvadori, Legssyer R, Lorenzo A Pinna, Luigi Maiuri, Lukacs G, Maria C Maiuri, Massimo Pettoello-Mantovani, Masvidal L, Pharmaceuticals Cylene, Pharmaceuticals Cylene, Rosa Grassia, Speranza Esposito, Standardization of Spirometry, Stefano Guido, Stern M, Valeria R Villella, Valeria Raia, van Doorninck JH, Villella VR   +39 more
core   +3 more sources

Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts

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 ...
D. Haffner, M. Leifheit-Nestler, Candide Alioli, J. Bacchetta   +3 more
semanticscholar   +1 more source

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? [PDF]

, 2015
We present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis ...
A Haschemi, Annette P. M. van den Elzen, Arvand Haschemi, Benjamin Nota, C Nagy, CW Bassim, Gajja S. Salomons, George J. G. Ruijter, Isabel Tavares de Almeida, JW Touchman, KA Freed, Luisa Diogo, Mirjam M. C. Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, Nelson Neves, NM Verhoeven, Paula Garcia, Ramon Bonte, Ruben J. J. F. Ramos, SG Heil, T Kardon   +24 more
core   +3 more sources

A new proof of evidence of cysteamine quantification for therapeutic drug monitoring in patients with cystinosis

Orphanet Journal of Rare Diseases, 2022
Background To date, measurement of intracellular cystine is used for the therapeutic monitoring of patients affected by cystinosis in treatment with cysteamine.
M. Franzin, Silvia Rossetto, Rachele Ruoso, Rossella Del Savio, G. Stocco, G. Decorti, R. Addobbati   +6 more
semanticscholar   +1 more source

Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease

Frontiers in Pediatrics, 2018
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body ...
Sören Bäumner, Lutz T. Weber
doaj   +1 more source

Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives

Cells, 2022
Early diagnosis and effective therapy are essential for improving the overall prognosis and quality of life of patients with nephropathic cystinosis. The severity of kidney dysfunction and the multi-organ involvement as a consequence of the increased ...
F. Emma, G. Montini, M. Pennesi, L. Peruzzi, E. Verrina, B. Goffredo, F. Canalini, D. Cassiman, Silvia Rossi, E. Levtchenko   +9 more
semanticscholar   +1 more source

Cysteamine inhibits lysosomal oxidation of low density lipoprotein in human macrophages and reduces atherosclerosis in mice [PDF]

, 2019
Background and aims: We have shown previously that low density lipoprotein (LDL) aggregated by vortexing is internalised by macrophages and oxidised by iron in lysosomes to form the advanced lipid/protein oxidation product ceroid.
Ahmad, Ahmad, Bachmanov, Baglione, Berliner, Besouw M, Bouazza, Dabbagh, David S. Leake, Devlin, Dohil, Dohil, El-Saadani, Esterbauer, Feroz Ahmad, Firth, Garner, Gerry, Goldstein, Heinemann, Javed, Jezegou, Jürgens, Kalatzis, Karunakaran, Khoo, Kritharides, Kuo, Leake, Lee, Liu, Marathe, Min-Oo, Mitchinson, Negre-Salvayre, Ojo, Omran, Oorni, Paigen, Palinski, Peter D. Weinberg, Pisoni, Portman, Quinn, Rajavashisth, Ruuth, Satchell, Schissel, Singh, Singh, Siow, Sneck, Steinberg, Steinberg, Tangirala, Tennezé, Tricon, Tsimikas, Ueda, Walters, Walters, Wen, Wilkins, Williams, Williams, Xu, Yichuan Wen, Yin, Yin, Yu, Yuan, Zahra Mohri, Zhang, Öörni   +73 more
core   +1 more source