Results 31 to 40 of about 4,935 (147)

Genome-wide analyses identify common variants associated with macular telangiectasia type 2 [PDF]

, 2017
Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS ...
A Bringmann, A Demirkan, A Kottgen, AC Barbosa, AC Len, AJ Mears, Anna Quaglieri, B Gold, B Howie, B Yu, BH Weber, C Giaume, C Toomes, Carolyn Cai, Catherine A Egan, CC Breugem, CC Chang, CW Carr, D Maiti, DA Bessant, EP Rhee, EY Chew, F Brancati, G Pare, G Tikellis, Global Lipids Genetics Consortium, GS Hageman, H Hao, I Eerola, I Eerola, J Bergeron-Sawitzke, J Raffler, J Raffler, J Yang, Jana Zernant, JB van Meurs, JD Cahoy, JDM Gass, JJ Chen, JR Black, JS Danik, K Mittelstrass, K Suhre, KT Oh, KZ Aung, L Bouchard, LA Lange, Lawrence A Yannuzzi, LC Kottyan, Lea Scheppke, LG Fritsche, LG Fritsche, Lisa Baird, LW Klomp, M Borenstein, M Henkemeyer, M Hong, M Sabater-Lleal, M Veiga-da-Cunha, M Zhao, M Zweier, Marcus Fruttiger, Mark Leppert, Martin Friedlander, MB Powner, MC Gillies, ME Kleber, ME Ritchie, Melanie Bahlo, MI Dorrell, MK Ikram, ML Summar, MR Metea, N Le Meur, N Revencu, N Siddiqui, NL Parmalee, NL Parmalee, Nori Matsunami, O Delaneau, P Artimo, Q Lin, Q Lin, R Klein, Rando Allikmets, RF Gariano, RJ Pruim, Roberto Bonelli, RS de Wijn, S Purcell, S Purcell, SH Chung, SH Lee, SR Hannan, SR Williams, SY Shin, T Illig, T Sing, T Watanabe, TD Gelehrter, TE Clemons, TE Clemons, Thomas S Scerri, TW Isaacs, U Menchini, V De Laurenzi, W Bi, W Wooderchak-Donahue, W Xie, WL Hutton, X Sim, Y Onishi, Y Usui, Z Xu   +113 more
core   +1 more source

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Quantitative proteomics of rat livers shows that unrestricted feeding is stressful for proteostasis with implications on life span. [PDF]

, 2016
Studies in young mammals on the molecular effects of food restriction leading to prolong adult life are scares. Here, we used high-throughput quantitative proteomic analysis of whole rat livers to address the molecular basis for growth arrest and the ...
Finka, A., Gat-Yablonski, G., Goloubinoff, P., Pinto, G., Quadroni, M., Shtaif, B.   +5 more
core   +1 more source

Biochemical, Clinical, and Functional Characterization of a Rare c.‐106C>A Promoter Region Variant in Late‐Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Ornithine transcarbamylase (OTC) deficiency can present during the neonatal period, infancy, or adulthood. Late‐onset phenotypes are influenced by residual enzyme activity and OTC gene expression. The objective of this study was to assess the pathogenicity of a rare promoter region variant, c.‐106C>A.
Samuel Quinn Tholl, Wendy McCaul, Anthony Rupar, Melanie P. Napier, Natalya Karp, Andrea C. Yu, Suzanne Ratko, Aneal Khan, Michael Geraghty, Chitra Prasad   +9 more
wiley   +1 more source

The Measurement of Ammonia in Human Breath and its Potential in Clinical Diagnostics [PDF]

, 2016
Ammonia is an important component of metabolism and is involved in many physiological processes. During normal physiology, levels of blood ammonia are between 11 and 50 µM.
Brannelly, N T, Hamilton-Shield, J P, Killard, A J   +2 more
core   +2 more sources

Metagenomic Insights Into the Ecology, Taxonomy and Metabolic Capabilities of ‘Candidatus Darwinibacteriales’ Ord. Nov. (Formerly MBA03), a Potential Key Player in Anaerobic Digestion

Microbial Biotechnology, Volume 18, Issue 12, December 2025.
Metagenomic analysis of anaerobic digesters revealed a dominant, uncultured bacterial taxon—MBA03—now proposed as ‘Candidatus Darwinibacteriales’ ord. nov. This newly defined order includes potential syntrophic acetate‐oxidising bacteria (SAOB), suggesting a key role in methane production.
Roser Puchol‐Royo, Javier Pascual, Asier Ortega‐Legarreta, Pascal Otto, Jeroen Tideman, Sjoerd‐Jan de Vries, Christian Abendroth, Kristie Tanner, Manuel Porcar, Adriel Latorre‐Perez   +9 more
wiley   +1 more source

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: A retrospective observational study [PDF]

, 2016
BACKGROUND: Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N ...
Baruteau, J, Cano, A, Chakrapani, A, Coker, M, Couce, ML, Del Toro, M, Delgado, MB, Donati, MA, Garcia-Cazorla, A, Gil-Ortega, D, Gomez-De Quero, P, Guffon, N, Hofstede, FC, Kalkan-Ucar, S, Lama-More, R, Le Mouhaer, J, Martinez-Pardo Casanova, M, Molina, A, Papadia, F, Pichard, S, Plisson, C, Rosello, P, Valayannopoulos, V   +22 more
core   +1 more source

New developments in the treatment of hyperammonemia: emerging use of carglumic acid

International Journal of General Medicine, 2011
Marta Daniotti1, Giancarlo la Marca2, Patrizio Fiorini1, Luca Filippi11Neonatal Intensive Care Unit, Department of Perinatal Medicine, “A. Meyer” University Children’s Hospital, Florence, Italy; 2Mass Spectrometry, Clinical ...
Marta Daniotti, Giancarlo la Marca, Patrizio Fiorini, et al   +3 more
doaj  

Generation of Highly Functional Hepatocyte-like Organoids from Human Adipose-Derived Mesenchymal Stem Cells Cultured with Endothelial Cells

Cells
Previously, we successfully established a highly functional, three-dimensional hepatocyte-like cell (3D-HLC) model from adipose-derived mesenchymal stem cells (ADSCs) via a three-step differentiation protocol.
Shuhai Chen, Yu Saito, Yuhei Waki, Tetsuya Ikemoto, Hiroki Teraoku, Shinichiro Yamada, Yuji Morine, Mitsuo Shimada   +7 more
doaj   +1 more source

Hyperammonemia-induced toxicity for the developing central nervous system [PDF]

, 2007
In pediatric patients, hyperammonemia can be caused by various acquired or inherited disorders such as urea cycle deficiencies or organic acidemias. The brain is much more susceptible to the deleterious effects of ammonium during development than in ...
Braissant, O., Cagnon, L.
core   +1 more source