Results 131 to 140 of about 5,039 (197)

Kidney organoids as models for hereditary kidney diseases: Toward precision medicine (Review). [PDF]

Exp Ther Med
Cui S, Chen T, Zou Y, Li M, Zhou H, Jiang J, Yang M.   +6 more
europepmc   +1 more source

Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model. [PDF]

Front Cell Dev Biol
Rossi MN, Ciolfi A, Matteo V, Pedace L, Nardini C, Loricchio E, Caiello I, Bellomo F, Taranta A, De Leo E, Tartaglia M, Emma F, De Benedetti F, Miele E, Prencipe G.   +14 more
europepmc   +1 more source

Cells heal themselves: gene-edited hematopoietic stem cells restore frataxin deficiency in multiple organs. [PDF]

J Clin Invest
Osborne LR.
europepmc   +1 more source

Serum N-glycosylation is altered in Nephropathic Cystinosis. [PDF]

Glycobiology
Cislaru A, Saldova R, Heggenstaller A, Nigrovic PA, Harlin E, Greville G, De Andrade Moral R, Bojar D, Awan A, O'Flaherty R.   +9 more
europepmc   +1 more source

Long-term outcomes in nephropathic cystinosis: a review. [PDF]

Pediatr Nephrol
Chang HE, Hossain MS, Song C, Surampudi N, Nesterova G, Gahl WA.   +5 more
europepmc   +1 more source

Edited HSPCs rescue frataxin deficiency and inflammation-driven multisystemic pathology in Friedreich's ataxia mice. [PDF]

J Clin Invest
Sivakumar A, Corl AN, Muñoz KJ, Arumugam S, Gunes BB, Solis AB, Murthy R, El-Hachem LR, Pizzo DP, Blair IA, Rojsajjakul T, Mesaros C, Wan X, Rainaldi JN, Badell-Grau RA, Khare V, Thai KE, Biederman K, Cherqui S.   +18 more
europepmc   +1 more source

The Use of a Viscous Cysteamine Eyedrop in a Belgian Cohort: Early 3-Year Results. [PDF]

Ophthalmol Ther
Matthys E, Delbeke H, Van Keer K, Casteels I.   +3 more
europepmc   +1 more source

Perspectives: Mental health challenges and medical trauma: focus on cystinosis patients and caregivers. [PDF]

Front Pediatr
Doyle MH, Meschke C.
europepmc   +1 more source

SGLT2 Inhibitors Rescue Lysosomal mTORC1 Hyperactivity and Proximal Tubulopathy in Preclinical Models of Cystinosis

Keller SA, Krohn P, Chen Z, Luciani A, Devuyst O.   +4 more
europepmc   +1 more source