Results 91 to 100 of about 9,272 (239)

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

Testicular function in males with infantile nephropathic cystinosis

Human Reproduction, 2021
STUDY QUESTION Do males with the rare lysosomal storage disease infantile nephropathic cystinosis (INC) have a chance of biological fatherhood? SUMMARY ANSWER Cryostorage of semen could be an option for approximately 20% of young males with INC, with ...
J. Rohayem, D. Haffner, J. Cremers, S. Huss, J. Wistuba, D. Weitzel, S. Kliesch, K. Hohenfellner   +7 more
semanticscholar   +1 more source

Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells [PDF]

, 2018
We have determined levels of glutathione (GSH), ATP, mitochondrial complex activity and apoptosis rate in proximal tubular cells (PTCs) exfoliated from urine in cystinotic (n=9) and control (n=9) children.
Haq, Mushfequr, Hargreaves, Iain, Heales, Simon, Laube, Guido, Shah, Vanita, Stewart, Victoria, van't Hoff, William   +6 more
core  

Averting the legacy of kidney disease: focus on childhood [PDF]

, 2016
World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among ...
Franz Schaefer, Julie R. Ingelfinger, Kamyar Kalantar-Zadeh, null null   +3 more
core   +6 more sources

Neuropathic Cystinosis: A Rare Case Report

مجله كليه طب الكندي
Cystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction.
Ahmed Muthana, Rabab Farhan Thejeal, Ikhlas Ali Ahmed   +2 more
doaj   +1 more source

Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study

Kurdistan Journal of Applied Research, 2018
Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms.
Hunar Jamal Hussein, Khalid Hama Salih, Adnan Mohammed Hasan   +2 more
doaj   +1 more source

A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis

Human Vaccines & Immunotherapeutics, 2020
We present a 9-month old boy with cystinosis admitted to our hospital with the complaints of vomiting, diarrhea and seizure. While he was hospitalized in a pediatric intensive care unit due to worsening of his signs related to cystinosis, within hours ...
Gurkan Bozan, Omer Kilic, Nuran Çetin, Gonca Kılıç Yıldırım, Hasan Bora Ulukapi, Merve Iseri Nepesov, Aslı Kavaz Tufan, Ener Cagri Dinleyici   +7 more
doaj   +1 more source

Cystinuria and cystinosis are usually related to L-cystine: is this really the case for cystinosis? A physicochemical investigation at micrometre and nanometre scale

Comptes rendus. Chimie, 2021
Medical literature indicates clearly that cystinuria and cystinosis, two severe genetic pathologies, are related to the presence of abnormal L-cystine deposits.
Dominique Bazin, M. Rabant, J. Mathurin, Margaux Petay, A. Deniset‐Besseau, A. Dazzi, Yangyang Su, E. P. Hessou, F. Tielens, Ferenc Borondics, M. Livrozet, Elise Bouderlique, J. Haymann, E. Letavernier, V. Frochot, M. Daudon   +15 more
semanticscholar   +1 more source

Tgm2‐Catalyzed Covalent Cross‐Linking of IκBα Drives NF‐κB Nuclear Translocation to Promote SASP in Senescent Microglia

Aging Cell, Volume 24, Issue 5, May 2025.
Tgm2 is highly expressed in senescent microglia. The Tgm2‐NF‐κB‐SASP loop facilitates senescence in microglia. Tgm2‐catalyzed covalent crosslinking of IκBα at K22 and Q248 in the cytoplasm of senescent microglia leads to a reduction in IκBα levels and NF‐κB nuclear translocation.
Zhiqiang Li, Tianxiang Wang, Sijing Du, Zelong Miao, Yujiao Zhao, Yuxiang Tang, Xianbin Meng, Shangcheng Yu, Dongyuan Zhang, Hao Jiang, Kunlin Du, Wei Wei, Haiteng Deng   +12 more
wiley   +1 more source

Tacrolimus in pediatric renal transplantation [PDF]

, 1996
Tacrolimus was used as the primary immunosuppressive agent in 69 pediatric renal transplantations between December 17, 1989, and June 30, 1995. Children undergoing concomitant or prior liver and/or intestinal transplantation were excluded from analysis ...
Ellis, D, Fung, JJ, Gilboa, N, Gritsch, HA, Hakala, TR, Irish, W, Jordan, ML, Lombardozzi-Lane, S, Scantlebury, VP, Shapiro, R, Simmons, RL, Starzl, TE, Vivas, C   +12 more
core   +1 more source