Results 81 to 90 of about 7,637 (215)

Kidney Fibrosis In Vitro and In Vivo Models: Path Toward Physiologically Relevant Humanized Models

Advanced Healthcare Materials, Volume 14, Issue 9, April 4, 2025.
This review discusses kidney diseases with a focus on kidney fibrosis and the models currently used. It highlights the limitations of animal and 2D in vitro models in replicating human kidney anatomy and physiology. Consequently, there is a significant need for humanized 3D in vitro models, such as 3D cell aggregates, membranes and hydrogels, on‐chip ...
Gabriele Addario, Lorenzo Moroni, Carlos Mota   +2 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

Genotype–Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights

Clinical &Experimental Ophthalmology, Volume 53, Issue 3, Page 232-245, April 2025.
ABSTRACT Corneal dystrophies are a group of predominantly rare inherited disorders. They are by definition bilateral, relatively symmetrical, and without systemic involvement, affecting corneal transparency and/or refraction. Traditional classification of corneal dystrophies is based on slit‐lamp appearance, affected corneal layer and histological ...
Petra Liskova, Pavlina Skalicka, Lubica Dudakova, Andrea L. Vincent   +3 more
wiley   +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

Genome-Wide Association Scan for Diabetic Nephropathy Susceptibility Genes in Type 1 Diabetes [PDF]

, 2011
OBJECTIVE—Despite extensive evidence for genetic susceptibility to diabetic nephropathy, the identification of susceptibility genes and their variants has had limited success.
Barati, Michelle T., Bochenski, Jacek, Boright, Andrew P., Bull, Shelley B., Canani, Luis H., DCCT/EDIC Research Group, Doria, Alessandro, Dunn, Jonathon S., Katavetin, Pisut, Klein, Jon B., Krolewski, Andrzej Stefan, Krolewski, Bozena Krystyna, Kure, Masahiko, Merchant, Michael L., Mirea, Lucia, Mychaleckyj, Josyf C., Ng, Daniel P.K., Paterson, Andrew D., Pezzolesi, Marcus Guy, Placha, Grzegorz, Poznik, G. David, Rich, Stephen S., Rogus, John Joseph, Smiles, Adam, Waggott, Daryl, Walker, William H., Wanic, Krzysztof, Warram, James H., Wolkow, Pawel   +28 more
core   +1 more source

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

Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis [PDF]

, 2018
Cystinosis is a rare multisystemic progressive disorder mandating lifelong medical treatment. Knowledge on the intellectual and motor functioning, health-related quality of life and psychosocial adjustment in children with cystinosis is limited.
Ha Vinh, Russia, Huisman, Thierry, Landolt, Markus, Latal, Bea, Laube, Guido, Neuhaus, Thomas, Ulmer, Francis   +6 more
core  

Negative modulation of the GABAAρ1 receptor function by l-cysteine [PDF]

, 2017
l-Cysteine is an endogenous sulfur-containing amino acid with multiple and varied roles in the central nervous system, including neuroprotection and the maintenance of the redox balance.
Beltrán González, Andrea Natalia, Calvo, Daniel Juan, Vicentini, Florencia   +2 more
core   +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