Results 51 to 60 of about 5,436 (204)

Cognitive functions and behavioural profiles in children with cystinosis treated with cysteamine and correlation with treatment duration

Middle East Current Psychiatry, 2022
Background Cystinosis is a rare autosomal recessive disease. Children with nephropathic cystinosis (NCTN) have evidence of intellectual dysfunction and behavioural abnormalities which are attributed to renal dysfunction, metabolic disarrangement, and ...
Fatma M. Atia, Weam Ryad Alfaleet, Somaya H. Shaheen, Neveen A. Soliman   +3 more
doaj   +1 more source

Fertility in cystinosis [PDF]

, 2021
Cystinosis is a rare inheritable lysosomal storage disorder characterized by cystine accumulation throughout the body, chronic kidney disease necessitating renal replacement therapy mostly during adolescence, and multiple extra-renal complications.
Besouw, Martine, Reda, Ahmed, Veys, Koenraad   +2 more
core   +3 more sources

Structural and molecular characterization of paraventricular thalamic glucokinase‐expressing neuronal circuits in the mouse

Journal of Comparative Neurology, Volume 530, Issue 11, Page 1773-1949, August 2022., 2022
By using a genetically modified mouse model and viral tracing approaches, we mapped both the anterograde and the retrograde projections of a subpopulation of neurons in the anterior paraventricular thalamic nucleus, molecularly defined by the expression of glucokinase (GckaPVT).
Sevasti Gaspari, Simon Quenneville, Ana Rodriguez Sanchez‐Archidona, Bernard Thorens, Sophie Croizier   +4 more
wiley   +1 more source

Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge. [PDF]

CEN Case Rep, 2022
Deepthi B, Krishnamurthy S, Karunakar P, Barathidasan G, Rajavelu TN.   +4 more
europepmc   +2 more sources

Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis. [PDF]

Mol Genet Metab, 2022
Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P, Wygoda S, Haffner D, Wühl E, Tönshoff B, Buescher A, Billing H, Hoppe B, Zirngibl M, Kettwig M, Moeller K, Acham-Roschitz B, Arbeiter K, Bald M, Benz M, Galiano M, John-Kroegel U, Klaus G, Marx-Berger D, Moser K, Mueller D, Patzer L, Pohl M, Seitz B, Treikauskas U, von Vigier RO, Gahl WA, Hohenfellner K.   +31 more
europepmc   +2 more sources

Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients [PDF]

, 2022
Cystinosis, a rare autosomal recessive lysosomal storage disorder, results in an abnormal accumulation of the amino acid cystine in multiple organs and tissues of the body.
Ariceta Iraola, Gema, Das, Anibh M, Emma, Francesco, Game, David S, Hulton, Sally A, Lange, Karin, Lapatto, Risto, Levtchenko, Elena, Liang, Hong, Sberro-Soussan, Rebecca, Servais, Aude, Topaloglu, Rezan, Universitat Autònoma de Barcelona, Wanner, Christoph, Webb, Nicholas J A   +14 more
core   +5 more sources

Metabolic Advantage of 25(OH)D₃ versus 1,25(OH)₂D₃ Supplementation in Infantile Nephropathic Cystinosis-Associated Adipose Tissue Browning and Muscle Wasting. [PDF]

Cells, 2022
Manifestations of infantile nephropathic cystinosis (INC) often include cachexia and deficiency of circulating vitamin D metabolites. We examined the impact of 25(OH)D3 versus 1,25(OH)2D3 repletion in Ctns null mice, a mouse model of INC.
Zhou P, Cheung WW, Gonzalez A, Vaddi V, Oliveira EA, Mak RH.   +5 more
europepmc   +2 more sources

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East. [PDF]

, 2019
Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in CTNS have been identified as causative to date.
Aldahmesh, Anikster, Bastug, Bertholet-Thomas, Cherqui, Chkioua, Cogan, Doneray, Elmonem, Emma, Forestier, Gahl, Gahl, Ghazi, Goldman, Higashi, Jaradat, Kalatzis, Kleta, Levy, McDowell, Sadeghipour, Servais, Shahkarami, Soliman, Thoene, Topaloglu, Topaloglu, Wamelink, Wilmer, Yang, Yeetong, Önenli-Mungan   +32 more
core   +3 more sources

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

A Randomized, Double‐Blind, Placebo‐Controlled, Multiple Dose Escalation Study to Evaluate the Safety and Pharmacokinetics of ELX‐02 in Healthy Subjects

Clinical Pharmacology in Drug Development, Volume 10, Issue 8, Page 859-869, August 2021., 2021
Abstract ELX‐02 is an investigational compound being developed as a therapy for genetic diseases caused by nonsense mutations such as cystic fibrosis. Structurally, ELX‐02 is an aminoglycoside analogue that induces read‐through of nonsense mutations through interaction with the ribosome, resulting in the production of full‐length functional proteins ...
Andi Leubitz, Frederic Vanhoutte, Ming‐yi Hu, Kaela Porter, Efrat Gordon, Kathleen Tencer, Kathleen Campbell, Kate Banks, Tom Haverty   +8 more
wiley   +1 more source