Cargando…

Non-invasive intradermal imaging of cystine crystals in cystinosis

IMPORTANCE: Development of noninvasive methodology to reproducibly measure tissue cystine crystal load to assess disease status and guide clinical care in cystinosis, an inherited lysosomal storage disorder characterized by widespread cystine crystal accumulation. OBJECTIVE: To develop an unbiased a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bengali, Marya, Goodman, Spencer, Sun, Xiaoying, Dohil, Magdalene A., Dohil, Ranjan, Newbury, Robert, Lobry, Tatiana, Hernandez, Laura, Antignac, Corinne, Jain, Sonia, Cherqui, Stephanie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932553/ https://www.ncbi.nlm.nih.gov/pubmed/33661986 http://dx.doi.org/10.1371/journal.pone.0247846

Ejemplares similares

Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns
por: Cherqui, Stéphanie, et al.
Publicado: (2000)

Treatment of corneal cystine crystal accumulation in patients with cystinosis
por: Shams, Fatemeh, et al.
Publicado: (2014)

Antifibrotic Effects of the Thiazolidinediones in Eosinophilic Esophagitis Pathologic Remodeling: A Preclinical Evaluation
por: Nhu, Quan M., et al.
Publicado: (2020)

Pancytopenia in a patient with cystinosis secondary to myelosuppression from cystine crystal deposition: a case report
por: Lyou, Yung, et al.
Publicado: (2015)

The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis
por: Bondue, Tjessa, et al.
Publicado: (2023)

Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside
por: Cherqui, Stephanie
Publicado: (2021)

Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review
por: Makuloluwa, Achini K, et al.
Publicado: (2018)

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis
por: Keidel, Leonie, et al.
Publicado: (2023)

Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model
por: Goodman, Spencer, et al.
Publicado: (2021)

Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns(−/−) knockout mouse
por: Simpson, Jennifer, et al.
Publicado: (2011)

Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis
por: Cheung, Wai W., et al.
Publicado: (2015)

The TGFβ1 Promoter SNP C-509T and Food Sensitization Promote Esophageal Remodeling in Pediatric Eosinophilic Esophagitis
por: Rawson, Renee, et al.
Publicado: (2015)

The novel aminoglycoside, ELX-02, permits CTNS(W138X) translational read-through and restores lysosomal cystine efflux in cystinosis
por: Brasell, Emma J., et al.
Publicado: (2019)

Heat Shock Protein-Derived T-Cell Epitopes Contribute to Autoimmune Inflammation in Pediatric Crohn's Disease
por: Puga Yung, Gisella L., et al.
Publicado: (2009)

TGFβ1 Single Nucleotide Polymorphism C-509T Alters Mucosal Cell Function in Pediatric Eosinophilic Esophagitis
por: Duong, L.D., et al.
Publicado: (2019)

Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis
por: Napolitano, Gennaro, et al.
Publicado: (2015)

OR6-005 – Cystine crystals activate inflammasomes
por: Prencipe, G, et al.
Publicado: (2013)

Fertility in Cystinosis
por: Reda, Ahmed, et al.
Publicado: (2021)

DYNC1LI2 regulates localization of the chaperone-mediated autophagy receptor LAMP2A and improves cellular homeostasis in cystinosis
por: Rahman, Farhana, et al.
Publicado: (2021)

Development and Application of a Functional Human Esophageal Mucosa Explant Platform to Eosinophilic Esophagitis
por: Kurten, Richard C., et al.
Publicado: (2019)

Cystinosis: a review
por: Elmonem, Mohamed A., et al.
Publicado: (2016)

Pregnancy in women with cystinosis
por: Blakey, Hannah, et al.
Publicado: (2019)

Crystal structure of seleno-l-cystine dihydrochloride
por: Görbitz, Carl Henrik, et al.
Publicado: (2015)

Role of Molecular Recognition in l-Cystine Crystal Growth Inhibition
por: Poloni, Laura N., et al.
Publicado: (2017)

The effect of selenium supplementation on cystine crystal volume in patients with cystinuria
por: Mohammadi, Mehrdad, et al.
Publicado: (2018)

Oxidative Stress in Cystinosis Patients
por: Vaisbich, Maria Helena, et al.
Publicado: (2011)

Improving the prognosis of nephropathic cystinosis
por: Besouw, Martine TP, et al.
Publicado: (2014)

Ocular cystinosis: Rarity redefined
por: Naik, Mayuresh P, et al.
Publicado: (2019)

Programmed Cell Death in Cystinosis
por: Ames, Elizabeth G., et al.
Publicado: (2022)

Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis
por: Hector, Emma, et al.
Publicado: (2022)

Cystine nephrolithiasis
por: Fattah, Hasan, et al.
Publicado: (2014)

Excellent long-term outcome of renal transplantation in cystinosis patients
por: Cohen, Camille, et al.
Publicado: (2015)

The sparkle in her eye: Crystal deposits in cornea, conjunctiva, meibombian glands, and iris in uncontrolled cystinosis
por: Baker, Dara R., et al.
Publicado: (2021)

Cystinosis Presenting with Findings of Bartter Syndrome
por: Özkan, Behzat, et al.
Publicado: (2011)

An unexpected problem in the clinical assessment of cystinosis
por: Powell, Kathy L., et al.
Publicado: (2012)

The History of Cystinosis: Lessons for Clinical Management
por: Goodyer, Paul
Publicado: (2011)

Cystinosis: practical tools for diagnosis and treatment
por: Wilmer, Martijn J., et al.
Publicado: (2010)

Cystinosis: the evolution of a treatable disease
por: Nesterova, Galina, et al.
Publicado: (2012)

Hirschsprung's disease with infantile nephropathic cystinosis
por: Mittal, Deepak, et al.
Publicado: (2015)

Structured Transition Protocol for Children with Cystinosis
por: Raina, Rupesh, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_c0burp1vo8qarubgjp5ub92tu1