Results 61 to 70 of about 1,950 (208)

Unlocking the Mysteries of Rare Disease Drug Development: A Beginner's Guide for Clinical Pharmacologists

Clinical and Translational Science, Volume 18, Issue 4, April 2025.
ABSTRACT Clinical pharmacologists face unique challenges when developing drugs for rare diseases. These conditions are characterized by small patient populations, diverse disease progression patterns, and a limited understanding of underlying pathophysiology.
Mariam A. Ahmed, Bilal AbuAsal, Jeffrey S. Barrett, Karim Azer, Yuen Yi Hon, Salwa Albusaysi, Elizabeth Shang, Meng Wang, Maria Burian, Noha Rayad   +9 more
wiley   +1 more source

Cysteamine–bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis

EMBO Molecular Medicine, 2021
Nephropathic cystinosis is a severe monogenic kidney disorder caused by mutations in CTNS, encoding the lysosomal transporter cystinosin, resulting in lysosomal cystine accumulation. The sole treatment, cysteamine, slows down the disease progression, but
Amer Jamalpoor, Charlotte AGH van Gelder, Fjodor A Yousef Yengej, Esther A Zaal, Sante P Berlingerio, Koenraad R Veys, Carla Pou Casellas, Koen Voskuil, Khaled Essa, Carola ME Ammerlaan, Laura Rita Rega, Reini EN van der Welle, Marc R Lilien, Maarten B Rookmaaker, Hans Clevers, Judith Klumperman, Elena Levtchenko, Celia R Berkers, Marianne C Verhaar, Maarten Altelaar, Rosalinde Masereeuw, Manoe J Janssen   +21 more
doaj   +1 more source

Mutational spectrum of cystinosis in Portugal, 1998-2017 [PDF]

, 2019
Artigo original publicado em inglês: Ferreira F, Leal I, Sousa D, et al. CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population. Open J Genet. 2018 Dec 18;8(4):91-100.
Carmona, Célia, Costa, Teresa, Ferreira, Filipa, Gomes, Ana Marta, Leal, Inês, Lopes, Daniela, Macário, Maria do Carmo, Magriço, Rita, Marcão, Ana, Mota, Conceição, Neiva, Raquel,, Oliveira, João Paulo, Pinto, Helena, Ramos, Sónia, Sousa, David, Tavares, Isabel, Vilarinho, Laura   +16 more
core  

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

Cellular and Molecular Mechanisms of Nephropathic Cystinosis [PDF]

, 2022
Nephropathic cystinosis (MIM # 219800) is a rare autosomal recessive disorder caused by mutations in the lysosomal cystine transporter cystinosin, encoded by the CTNS gene (17p13.2).

core   +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

CTNS molecular genetics profile in a Persian nephropathic cystinosis population

Nefrología, 2017
Purpose: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia.
Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A. Gahl, Babak Behnam   +7 more
doaj   +3 more sources

Patient journey in cystinosis: focus on non-adherence and disease management

Drugs in Context
Background: Few studies have assessed patient-reported experience measures in nephropathic cystinosis. This study uses patient reports focused on the impact of cystinosis, cysteamine treatment-associated problems, and therapeutic adherence and suggests ...
Gema Ariceta, Simón Lalanza, Catalina Peña, Marta Martínez Montero, Carlos Bezos Daleske, Laura Acuña Álvarez, Elisa Giner   +6 more
doaj   +1 more source

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report

JIMD Reports, Volume 66, Issue 1, January 2025.
ABSTRACT Many inherited metabolic disorders (IMD) are associated with end‐organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates.
Raeda Taj, Kim Ng, Sanmati R. Cuddapah, Elizabeth B. Rand, Melissa Bleicher, Sandra Amaral, Maarouf A. Hoteit, Rajendar K. Reddy, Eyob Feyssa, Emma E. Furth, Kim M. Olthoff, Samir Abu‐Gazala, Matthew H. Levine, Frederick Vyas, Peter L. Abt   +14 more
wiley   +1 more source

Altered mTOR signalling in nephropathic cystinosis [PDF]

Journal of Inherited Metabolic Disease, 2016
AbstractLysosomes play a central role in regulating autophagy via activation of mammalian target of rapamycin complex 1 (mTORC1). We examined mTORC1 signalling in the lysosomal storage disease nephropathic cystinosis (MIM 219800), in which accumulation of autophagy markers has been previously demonstrated.
Ivanova, E.A., Heuvel, L.P.W.J. van den, Elmonem, M.A., Smedt, H. De, Missiaen, L., Pastore, A., Mekahli, D., Bultynck, G., Levtchenko, E.N.   +8 more
openaire   +2 more sources