Results 91 to 100 of about 2,523,567 (168)

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

Characterization of mesenchymal stem cells and CTNS(−/−) mutant target cells.

, 2013
(a) FACS analysis (left) of bmMSC surface markers (blue) and isotype controls (red) and bmMSC differentiation from baseline (upper right) to Alizarin Red S-stained calcium-containing osteogenic (middle right) and Oil-Red O-stained adipocyte (bottom right)
Reyhan El-Kares (311952), Nicoletta Eliopoulos (311965), Jing Zhao (21160), Diana M. Iglesias (311951), Lambertus van den Heuvel (311962), Francesco Bellomo (311954), Jaan Toelen (311961), Yoon Kow Young (311964), LeeLee Chu (311963), Paul Goodyer (311966), Francesco Emma (311956), Anna Taranta (311953), Elena Levtchenko (311960), Martine Besouw (311958)   +13 more
core   +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

Histological features of kidneys from Ctns^Y226X/Y226X vs. Ctns^+/+mice.

, 2019
A. Cystine crystals in 6-months old Ctns+/+ and CtnsY226X/Y226X female kidney. B. Bowman’s capsule/proximal tubule lesions in 6-month old CtnsY226X/Y226X male kidney vs Ctns+/+ wildtype.
Pedro Huertas (4891903), Emma J. Brasell (8081969), Lee Lee Chu (8081972), Yojiro Yamanaka (7589195), Iris Alroy (8081981), Paul Goodyer (311966), Brian M. Gilfix (8081987), Murielle M. Akpa (8081975), Idit Eshkar-Oren (8081978), Rachel Corsini (8081984)   +9 more
core   +1 more source

KASP^TM SNP genotyping assay of BTA19_24970466 locus of Polish Red CTNS gene showing the data for single KASP^TM assays on a single cluster plot.

, 2017
KASPTM SNP genotyping assay of BTA19_24970466 locus of Polish Red CTNS gene showing the data for single KASPTM assays on a single cluster plot.
Paweł Błaszczyk (3110316), Leyland Fraser (3110304), Przemysław Sobiech (3110313), Haja N. Kadarmideen (419115), Mariusz Pierzchała (3110292), Chandra Shekhar Pareek (3110277), Urszula Czarnik (3110289), Yaping Feng (427666), Piotr Dziuba (3110283), Dibyendu Kumar (3110295)   +9 more
core   +1 more source

Gene Therapy for Allergic Diseases

, 2010
Allergic diseases, such as allergic asthma, allergic rhinitis, atopic dermatitis, conjunctivitis, urticaria, food allergy, and/or anaphylaxis, are associated with the skewing of immune responses towards a T helper 2 ( TH2) phenotype, resulting in ...
莊雅惠;楊曜旭;江伯倫, CHUANG, YA-HUI;YANG, YAO-HSU;CHIANG, BOR-LUEN   +1 more
core   +1 more source

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

, 2015
Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders.
Tantai Zhao, Rui Zhao, Ming Tu, Yong-jia Yang, Liu Zhao, Lijun Zhou, Jihong Guo, Yi-min Zhu, Xinyu He, Linqian Wu, Yuan Hu   +10 more
core   +1 more source

amMSC microvesicle transfer of mRNA to CTNS(−/−) mutant fibroblasts.

, 2013
(a) RT/PCR amplicon of CTNS (spanning exons 10 to 12) obtained from RNA extracted from amMSC microvesicles. (b) RT/PCR showing absence of CTNS mRNA in GFP-tagged CTNS(−/−) mutant fibroblasts isolated by FACS after 4 days of co-culture with untagged ...
Reyhan El-Kares (311952), Nicoletta Eliopoulos (311965), Jing Zhao (21160), Diana M. Iglesias (311951), Lambertus van den Heuvel (311962), Francesco Bellomo (311954), Jaan Toelen (311961), Yoon Kow Young (311964), LeeLee Chu (311963), Paul Goodyer (311966), Francesco Emma (311956), Anna Taranta (311953), Elena Levtchenko (311960), Martine Besouw (311958)   +13 more
core   +1 more source

Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification

Frontiers in Genetics
Genetic variability persists across diverse populations, and it may impact the characterization of heritable diseases in different ancestral groups. Cystinosis is a metabolic disease caused by pathogenic variants in the CTNS gene causing the cellular ...
Chen-Han Wilfred Wu, Chen-Han Wilfred Wu, Alicja Tomaszewski, Alicja Tomaszewski, Louisa Stark, Fernando Scaglia, Ewa Elenberg, Fredrick R. Schumaker   +7 more
doaj   +1 more source

Unveiling cystinosis in India

Journal of Rare Diseases
Background Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein.
Aniruddh Heroor, Anshuman Verma, Divya Sree Achanta, Deepak Paul Edward, Muralidhar Ramappa   +4 more
doaj   +1 more source