Results 71 to 80 of about 2,800 (183)

Nephropathic cystinosis: an international consensus document [PDF]

Nephrology Dialysis Transplantation, 2014
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the
Emma, F., Nesterova, G., Langman, C., Labbe, A., Cherqui, S., Goodyer, P., Janssen, M.C., Janssen, M.C., Greco, M., Topaloglu, R., Elenberg, E., Dohil, R., Trauner, D., Antignac, C., Cochat, P., Kaskel, F., Servais, A., Wuhl, E., Niaudet, P., van 't Hoff, W., Gahl, W., Levtchenko, E.N.   +21 more
openaire   +6 more sources

The Evolving Experience and Outcomes of Pediatric Kidney Transplant in Abu Dhabi, UAE (2010–2024)

International Journal of Nephrology, Volume 2025, Issue 1, 2025.
Background Kidney transplant is acknowledged as the treatment of choice for end‐stage renal disease (ESRD). This study reports on the outcome of pediatric renal transplant at a tertiary hospital in Abu Dhabi. Methods It is a retrospective study of all pediatric renal transplants performed at a single designated pediatric center between February 2010 ...
Ela Beyyumi, Watfa Al Dhaheri, Niaz Ahmad, Muhammad Badar Zaman, Eihab Al Khasawneh, Tej Mattoo   +5 more
wiley   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Abnormal mitochondrial autophagy in nephropathic cystinosis [PDF]

Autophagy, 2010
Cystinosis, which is characterized by lysosomal accumulation of cystine in many tissues, was the first known storage disorder caused by defective metabolite export from the lysosome. The molecular and cellular mechanisms underlying nephropathic cystinosis, the most severe form, which exhibits generalized proximal tubular dysfunction and progressive ...
Poonam, Sansanwal, Minnie M, Sarwal
openaire   +2 more sources

Substrate selectivity and inhibition of the human lysyl hydroxylase JMJD7

Protein Science, Volume 33, Issue 10, October 2024.
Abstract Jumonji‐C (JmjC) domain‐containing protein 7 (JMJD7) is a human Fe(II) and 2‐oxoglutarate dependent oxygenase that catalyzes stereospecific C3‐hydroxylation of lysyl‐residues in developmentally regulated GTP binding proteins 1 and 2 (DRG1/2). We report studies exploring a diverse set of lysine derivatives incorporated into the DRG1 peptides as
Nurgül Bilgin, Anthony Tumber, Siddhant Dhingra, Eidarus Salah, Aziza Al‐Salmy, Sandra Pinzón Martín, Yicheng Wang, Christopher J. Schofield, Jasmin Mecinović   +8 more
wiley   +1 more source

A case of corneal cystinosis in a patient with rickets and chronic renal failure

Indian Journal of Ophthalmology, 2015
A 22-year-old man diagnosed with nephropathic cystinosis at the age of 4 years was found to have progressive bilateral corneal crystal deposition. He presented with severe photophobia and decreased visual acuity.
Jae Yon Won, Hyung Bin Hwang, Sung Kun Chung   +2 more
doaj   +1 more source

Cysteamine bitartrate delayed‐release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open‐label study of treatment‐naïve patients <6 years of age with nephropathic cystinosis

JIMD Reports, 2022
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disease that is characterized by accumulation of cysteine and formation of crystals within cells of different organs and tissues causing systemic manifestations in childhood that ...
Maria Helena Vaisbich, Juliana Caires Ferreira, Heather Price, Kyleen D. Young, Saba Sile, Gregg Checani, Craig B. Langman   +6 more
doaj   +1 more source

Luteolin: A promising multifunctional natural flavonoid for human diseases

Phytotherapy Research, Volume 38, Issue 7, Page 3417-3443, July 2024.
Luteolin, a flavonoid polyphenolic compound, has the ability to target multiple targets and pathways of the complex pathogenesis of related diseases, showing unique characteristics and benefits in the prevention or treatment of human diseases. Abstract Natural products are closely associated with human health.
Mingtao Zhu, Yanping Sun, Yang Su, Wei Guan, Yu Wang, Jianwei Han, Shuang Wang, Bingyou Yang, Qiuhong Wang, Haixue Kuang   +9 more
wiley   +1 more source

Role of biomarkers of inflammation and MRI technique for the early detection of cystinosis-associated myopathy

Egyptian Pediatric Association Gazette
Background Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy, Rasha Selim Mahmoud, Mohamed A. Elmonem, Sally Emadeldin, Neveen Abd Elmonem Soliman   +4 more
doaj   +1 more source

Computational Drug Repositioning in Cardiorenal Disease: Opportunities, Challenges, and Approaches

PROTEOMICS, Volume 25, Issue 11-12, June 2025.
Paul Perco, Matthias Ley, Kinga Kęska‐Izworska, Dorota Wojenska, Enrico Bono, Samuel M. Walter, Lucas Fillinger, Klaus Kratochwill   +7 more
wiley   +1 more source