Results 21 to 30 of about 1,950 (208)

Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis. [PDF]

Mol Genet Metab, 2022
Hohenfellner K, Nießl C, Haffner D, Oh J, Okorn C, Palm K, Schlingmann KP, Wygoda S, Gahl WA.   +8 more
europepmc   +3 more sources

Infantile nephropathic cystinosis [PDF]

Kidney International, 2008
CASE PRESENTATION A Caucasian girl, the product of a non-consanguineous union, was delivered after a full-term uneventful pregnancy with a birth weight of 4.1 kg. At 15 months, she presented to the emergency room with signs of a respiratory illness and was found to weigh 6.14 kg, below the 3rd percentile for age.
Stokes, M.B., Jernigan, S., D'Agati, V.D.   +2 more
openaire   +2 more sources

Efficacy mechanisms research progress of the active components in the characteristic woody edible oils

Food Frontiers, Volume 4, Issue 4, Page 1578-1605, December 2023., 2023
As six novel woody crops, Paeonia suffruticosa, Plukenetia volubilis, Acer truncatum, Olea europaea, Camellia sinensis, and Camellia oleifera are characterized by high oil production, widespread cultivation, adaptability, low cost, and various active ingredients.
Lili Xu, Wei Wang, Kaiwen Bai, Yi Wu, Yilin Ling, Xiaoyue Kong, Romero Agusti, Qianhui Qi, Zhaisheng Zheng, Ming'an Yuan, Le Chen, Lianliang Liu, Peifang Weng, Yu Zhang   +13 more
wiley   +1 more source

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

mTOR signaling in renal ion transport

Acta Physiologica, Volume 238, Issue 1, May 2023., 2023
Abstract The mammalian target of rapamycin (mTOR) signaling pathway is crucial in maintaining cell growth and metabolism. The mTOR protein kinase constitutes the catalytic subunit of two multimeric protein complexes called mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2).
Anastasia Adella, Jeroen H. F. de Baaij
wiley   +1 more source

Nephropathic cystinosis: an update [PDF]

Current Opinion in Pediatrics, 2017
Purpose of review Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic disease. The increasing understanding of its pathophysiology has made cystinosis a prototype disease, delivering new insights into several fundamental biochemical and cellular processes.
Veys, K.R., Elmonem, M.A., Arcolino, F.O., van den Heuvel, L.P., van den Heuvel, L.P., van den Heuvel, L.P., Levtchenko, E.N.   +6 more
openaire   +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

Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 183-191, March 2022., 2022
Abstract Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disease caused by biallelic mutations in the cystinosin gene, leading to cystine accumulation in various organs. The aim of this cross‐sectional study was to investigate neuromuscular complications in a cohort of 55 patients (aged 2.8‐41.3 years, median 18.5 years) with INC ...
Katharina Vill, Wolfgang Müller‐Felber, Timotheus Landfarth, Christian Köppl, Nadine Herzig, Christine Knerr, Heike Holla, Günther Steidle, Erik Harms, Katharina Hohenfellner, the Interdisciplinary Cystinosis Group   +10 more
wiley   +1 more source

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

Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 192-202, March 2022., 2022
Abstract Children with infantile nephropathic cystinosis (INC), an inherited lysosomal storage disease resulting in cystine accumulation in all body cells, are prone to progressive chronic kidney disease (CKD), impaired growth and reduced weight gain; however, systematic anthropometric analyses are lacking.
Rika Kluck, Sophia Müller, Celina Jagodzinski, Katharina Hohenfellner, Anja Büscher, Markus J. Kemper, Jun Oh, Heiko Billing, Julia Thumfart, Lutz T. Weber, Birgit Acham‐Roschitz, Klaus Arbeiter, Burkhard Tönshoff, Martina Hagenberg, Nele Kanzelmeyer, Leo Pavičić, Dieter Haffner, Miroslav Zivicnjak   +17 more
wiley   +1 more source