Results 111 to 120 of about 9,272 (239)

Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis

Orphanet Journal of Rare Diseases, 2020
Background Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first signs, leading to end-stage renal disease between the age of 12 and 16.
Aurore Curie, Nathalie Touil, Ségolène Gaillard, Damien Galanaud, Nicolas Leboucq, Georges Deschênes, Denis Morin, Fanny Abad, Jacques Luauté, Eurielle Bodenan, Laurent Roche, Cécile Acquaviva, Christine Vianey-Saban, Pierre Cochat, François Cotton, Aurélia Bertholet-Thomas   +15 more
doaj   +1 more source

mRNA therapy: A new frontier in regenerative medicine

Interdisciplinary Medicine, Volume 3, Issue 2, March 2025.
This review discussed the potential of mRNA drugs in regenearative medicine, highlighting the key processes of mRNA therapy, focusing on therapeutic mRNA modification and delivery carriers. The preclinical and clinical studies of mRNA therapeutics for regeneration of cardiac, lung, liver, kidney, locomotor system, skin lesions and neurological ...
Ding‐Ding Xue, Yue Zhang, An‐Ran Shen, Tao‐Tao Tang, Bi‐Cheng Liu, Lin‐Li Lv   +5 more
wiley   +1 more source

Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience

Diagnostics, 2020
Background: We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics. Methods: This is a descriptive and retrospective case series. All patients underwent a full check-up examination
Malgorzata Kowalczyk, Mario Damiano Toro, Robert Rejdak, Wojciech Załuska, Caterina Gagliano, Przemyslaw Sikora   +5 more
doaj   +1 more source

Rocaglates as dual-targeting agents for experimental cerebral malaria [PDF]

, 2018
Cerebral malaria (CM) is a severe and rapidly progressing complication of infection by Plasmodium parasites that is associated with high rates of mortality and morbidity.
Ayi, Kodjo, Brown, Lauren E., Cencic, Regina, Crandall, Ian, Gros, Philippe, Kain, Kevin C., Kennedy, James M., Langlais, David, Moradin, Neda, Pelletier, Jerry, Porco, John A., Schmeing, Martin, Tarry, Michael J.   +12 more
core   +1 more source

CTNS mutations in publicly-available human cystinosis cell lines

Molecular Genetics and Metabolism Reports, 2015
Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information.
Artem Zykovich, Renee Kinkade, Gary Royal, Todd Zankel   +3 more
doaj   +1 more source

Renal Transplantation in Patients with Cystinosis – A Case Series

Indian Journal of Transplantation
Cystinosis is a rare autosomal recessive lysosomal storage disorder causing intracellular accumulation of cystine in different organs, leading to several organ dysfunctions. Renal involvement is the most serious manifestation of cystinosis leading to end-
Yashwanth Raj Thiagarajan, Dinesh Kannabhiran, Kanakaraj Arumugham, Rajan Ravichandran   +3 more
doaj   +1 more source

Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Herein, we studied the expression of endocannabinoid receptor 2 (CB2R), a known inflammation mediator, in several lysosomal storage disorder (LSD) animal models and evaluated it as a potential biomarker and therapeutic target for these diseases.
Calogera M. Simonaro, Makiko Yasuda, Edward H. Schuchman   +2 more
wiley   +1 more source

Characterizing pre-transplant and post-transplant kidney rejection risk by B cell immune repertoire sequencing. [PDF]

, 2019
Studying immune repertoire in the context of organ transplant provides important information on how adaptive immunity may contribute and modulate graft rejection. Here we characterize the peripheral blood immune repertoire of individuals before and after
Liberto, Juliane M, Pineda, Silvia, Sarwal, Minnie M, Sigdel, Tara K, Sirota, Marina, Vincenti, Flavio   +5 more
core   +3 more sources

Computational Drug Repositioning in Cardiorenal Disease: Opportunities, Challenges, and Approaches

PROTEOMICS, Volume 25, Issue 11-12, June 2025.
Paul Perco, Matthias Ley, Kinga Kęska‐Izworska, Dorota Wojenska, Enrico Bono, Samuel M. Walter, Lucas Fillinger, Klaus Kratochwill   +7 more
wiley   +1 more source

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract Background Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities.
I. J. Hieltjes, J. H. van der Lee, M. C. Groenendijk, G. van Haaften, P. M. van Hasselt, R. J. Lunsing, G. J. J. van Prooijen, E. M. de Ruiter, F. J. van Spronsen, N. M. Verhoeven‐Duif, A. de Vreugd, M. Wagenmakers, H. Zweers, H. Dekker, H. R. Waterham, C. D. van Karnebeek, R. J. A. Wanders, R. A. Wevers   +17 more
wiley   +1 more source