Results 81 to 90 of about 1,567 (165)

Risk of Relapse Post Reduced Intensity Conditioning Allogeneic Stem Cell Transplant in Patients With High‐Risk Myeloid Neoplasms Based on GvHD Prophylaxis: PTCy Vs. TAC/MTX

American Journal of Hematology, Volume 100, Issue 11, Page 2134-2139, November 2025.
Khalil Hassan, Anmol Baranwal, Al Rabee Kassis, Jade Braun, Gabriel Bartoo, Robert Wolf, Mehrdad Hefazi, Aasiya Matin, Abhishek Mangoankar, Mithun V. Shah, Mark R. Litzow, William J. Hogan, David Dingli, Hassan B. Alkhateeb   +13 more
wiley   +1 more source

Disruption of a cystine transporter downregulates expression of genes involved in sulfur regulation and cellular respiration

Biology Open, 2016
Cystine and cysteine are important molecules for pathways such as redox signaling and regulation, and thus identifying cellular deficits upon deletion of the Saccharomyces cerevisiae cystine transporter Ers1p allows for a further understanding of cystine
Jessica A. Simpkins, Kirby E. Rickel, Marianna Madeo, Bethany A. Ahlers, Gabriel B. Carlisle, Heidi J. Nelson, Andrew L. Cardillo, Emily A. Weber, Peter F. Vitiello, David A. Pearce, Seasson P. Vitiello   +10 more
doaj   +1 more source

Therapeutic strategies in cystinosis: A focus on cysteamine and beyond

Experimental and Molecular Pathology
Cystinosis is a autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, which encodes cystinosin, a cystine transporter.
Angelo Santoro, Yuri Vincenzo Ferrara, Alfonso De Angelis   +2 more
doaj   +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

Phenotypic variability in cystinosis: Lessons from an atypical case

Nefrología (English Edition)
Cystinosis is a rare monogenic autosomal recessive disorder caused by pathogenic variants in the CTNS gene, encoding cystinosin. Loss-of-function of cystinosin leads to intralysosomal cystine accumulation, resulting in cellular dysfunction and ...
Diego Toso, Monica Furlano, Adria Tinoco, Tania Sensat Saltor, Elisabet Ars, Roser Torra   +5 more
doaj   +1 more source

The Role of Cystinosin in the Intermediary Thiol Metabolism and Redox Homeostasis in Kidney Proximal Tubular Cells

Antioxidants, 2018
Cystinosin is a lysosomal transmembrane protein which facilitates transport of the disulphide amino acid cystine (CySS) from the lysosomes of the cell.
Rodolfo Sumayao, Philip Newsholme, Tara McMorrow   +2 more
doaj   +1 more source

Recipient single nucleotide polymorphisms in Paneth cell antimicrobial peptide genes and acute graft‐versus‐host disease: analysis of BMT CTN‐0201 and ‐0901 samples [PDF]

, 2018
Armin Rashidi, Ryan Shanley, Sophia Yohe, Bharat Thyagarajan, Julie Curtsinger, Claudio Anasetti, Edmund K. Waller, Bart L. Scott, Bruce R. Blazar, Daniel J. Weisdorf   +9 more
openalex   +1 more source

Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation

Clinical Case Reports, 2018
Key Clinical Message We report a Russian patient with atypical onset of infantile nephropathic cystinosis. The disease debuted with vomiting and loss of weight and motor skills. Nephropathic changes appeared 6 months after onset of disease.
Kozina A. Anastasiya, Okuneva G. Elena, Baryshnikova V. Natalia, Krasnenko Yu. Anna, Tsukanov Yu. Kirill, Klimchuk I. Olesya, Nikishina A. Tatiana, Fedoniuk D. Inessa, Surkova I. Ekaterina, Shatalov A. Peter, Ilinsky V. Valery   +10 more
doaj   +1 more source

The History of Cystinosis: Lessons for Clinical Management

International Journal of Nephrology, 2011
Cystinosis is a rare disorder, and, accordingly, progress on the understanding and treatment of this disease has been relatively slow. Although cystinosis was identified over 100 years ago, the history of cystinosis is marked by a few sudden leaps ...
Paul Goodyer
doaj   +1 more source

Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review

Clinical Ophthalmology, 2018
Achini K Makuloluwa, Fatemeh Shams Tennent Institute of Ophthalmology, Gartnavel General Hospital, Glasgow, UK Abstract: Cystinosis is a rare, autosomal recessive disorder leading to defective transport of cystine out of lysosomes.
Makuloluwa AK, Shams F
doaj