Results 71 to 80 of about 4,129 (176)

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects

Molecular Genetics and Metabolism Reports, 2020
Variants in Phosphomannomutase 2 (PMM2) lead to PMM2-CDG, the most frequent congenital disorder of glycosylation (CDG). We here describe the disease course of a ten-month old patient who presented with the classical PMM2-CDG symptoms as cerebellar ...
Marlen Görlacher, Eleftheria Panagiotou, Nastassja Himmelreich, Andreas Hüllen, Lars Beedgen, Bianca Dimitrov, Virginia Geiger, Matthias Zielonka, Verena Peters, Sabine Strahl, Jaime Vázquez-Jiménez, Gunter Kerst, Christian Thiel   +12 more
doaj   +1 more source

Real-Time PCR Method for the Rapid Detection and Quantification of Pathogenic Staphylococcus Species Based on Novel Molecular Target Genes

Foods, 2021
Coagulase-positive Staphylococcus aureus is a foodborne pathogen considered one of the causes of food-related disease outbreaks. Like S. aureus, Staphylococcus capitis, Staphylococcus caprae, and S.
Eiseul Kim, Seung-Min Yang, Ji-Eun Won, Da-Young Kim, Da-Som Kim, Hae-Yeong Kim   +5 more
doaj   +1 more source

The response of diatom central carbon metabolism to nitrogen starvation is different from that of green algae and higher plants [PDF]

, 2011
The availability of nitrogen varies greatly in the ocean and limits primary productivity over large areas. Diatoms, a group of phytoplankton that are responsible for about 20% of global carbon fixation, respond rapidly to influxes of nitrate and are ...
Hockin, Nicola Louise, Kopriva, Stanislav, Malin, Gill, Mock, Thomas, Mulholland, Francis   +4 more
core   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Transcriptional analysis of the innate immune response of ducks to different species-of-origin low pathogenic H7 avian influenza viruses [PDF]

, 2013
BACKGROUND: Wild waterfowl, including ducks, represent the classic reservoir for low pathogenicity avian influenza (LPAI) viruses and play a major role in the worldwide dissemination of AIV.
Brian S Ladman, Calvin L Keeler, Erica V Spackman, Jack Gelb, Lauren A Preskenis, Lorna S Dougherty, Michele N Maughan   +6 more
core   +1 more source

Unsuccessful intravenous D-mannose treatment in PMM2-CDG

Orphanet Journal of Rare Diseases, 2019
Background PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first years of life.
Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal, Ute Spiekerkoetter   +8 more
doaj   +1 more source

Phosphomannomutase deficiency (PMM2-CDG): Ataxia and cerebellar assessment [PDF]

, 2015
Background: Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is ...
Artuch, R., Boix, Cristina, Briones, Paz, Carratalá, Francisco, Cuadras, Daniel, De Diego, Victor, Felipe-Rucián, Ana, Fons, Carmen, García-Cazorla, Angels, Girós, Marisa, Gort, Laura, Hospital Universitari Vall d'Hebron. Secció de Neurologia Pediàtrica, Jaeken, Jaak, Macaya Ruiz, Alfons, Muchart, Jordi, O'Callaghan, M. Mar, Poo, M. Pilar, Pérez, Belén, Pérez-Cerdá, Celia, Pérez-Dueñas, Belén, Robles, Bernabé, Serrano, Mercedes, Universitat Autònoma de Barcelona, Velázquez-Fragua, Ramón   +23 more
core   +3 more sources

Investigation of the biosynthesis of exopolysaccharides within the biofilm matrix of Pseudomonas aeruginosa and Pseudomonas syringae pv. actinidiea : a thesis presented in partial fulfilment of the requirements for degree of Doctor of Philosophy in Microbiology and Genetics at Massey University, Manawatu, New Zealand [PDF]

, 2017
Polysaccharides are highly abundant natural biopolymers, which have biologically significant structural functions in living organisms. Various polysaccharides, with specific physicochemical properties, contribute to biofilm formation; defined as cell ...
Ghods, Shirin
core  

Calmodulin‐Like Protein MfCML50 Interacts With Carveol Dehydrogenase in Medicago falcata to Regulate Cold Tolerance Through Mediating ROS Homeostasis

Plant Biotechnology Journal, Volume 24, Issue 3, Page 1152-1165, March 2026.
ABSTRACT Low temperature triggers Ca2+ signalling and reprogramming of gene expression and metabolism in plants. However, how the Ca2+ signal is transduced to the downstream metabolic pathways remains unknown. The involvement of a cold‐induced calmodulin‐like protein, MfCML50, from Medicago falcata in regulation of cold tolerance was examined in the ...
Bohao Geng, Shuhan Yu, Qiguo Sun, Lei Yang, Qian Yang, Hailong Yang, Zhenfei Guo   +6 more
wiley   +1 more source