Results 11 to 20 of about 2,290,618 (347)

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Structure‐guided identification of a selective sulfonamide‐based inhibitor targeting the human carbonic anhydrase VA isoform

Archiv der Pharmazie, Volume 356, Issue 1, January 2023., 2023
Combining ligand‐based and structure‐based methodologies, the applied virtual screening approach identified a collection of sulfonamides targeting the human carbonic anhydrase (hCA) VA isoform. 2‐(3,4‐Dihydro‐2H‐quinolin‐1‐yl)‐N‐(4‐sulfamoylphenyl)acetamide was identified as a potent and selective lead compound as a candidate for further exploitation ...
Laura De Luca, Andrea Angeli, Federico Ricci, Claudiu T. Supuran, Rosaria Gitto   +4 more
wiley   +1 more source

Loss of tumor necrosis factor (TNF)‐receptor 1 and TNF‐receptor 2 partially replicate effects of TNF deficiency on dendritic spines of granule cells in mouse dentate gyrus

Journal of Comparative Neurology, Volume 531, Issue 2, Page 281-293, February 2023., 2023
Hippocampal granule cells of adult mice lacking canonical TNF‐Rs were filled with Alexa568 and immunolabeled for Synaptopodin. Morphometric analysis of their spines revealed that TNF‐R mutants partially replicate changes previously reported for TNF‐deficient mice.
Dinko Smilovic, Michael Rietsche, Meike Fellenz, Alexander Drakew, Mario Vuksic, Thomas Deller   +5 more
wiley   +1 more source

GABAA receptor signalling mechanisms revealed by structural pharmacology

Nature, 2019
Type-A γ-aminobutyric (GABAA) receptors are ligand-gated chloride channels with a very rich pharmacology. Some of their modulators, including benzodiazepines and general anaesthetics, are among the most successful drugs in clinical use and are common ...
S. Masiulis, Rooma Desai, T. Uchański, I. S. Martin, D. Laverty, D. Karia, T. Malinauskas, J. Zivanov, E. Pardon, A. Kotecha, J. Steyaert, K. Miller, A. Aricescu   +12 more
semanticscholar   +1 more source

Evaluating and forecasting the associated main flavor components in Baijiu (Chinese distilled spirits) with alcohol metabolism and hangover symptoms through mice acute withdrawal model

Food Science &Nutrition, Volume 11, Issue 1, Page 334-343, January 2023., 2023
Chinese distilled spirits (Baijiu) is one of the most favourite alcohol beverages. The flavor quality of Baijiu is supposed to be one of the key factors which caused the hangover. However, little systematic study has been done to estimate the flavors effects on the hangover in the different aroma‐type of Baijiu.
Jie Huangfu, Jun Lu, Changwen Li, Deliang Wang, Chunguang Luan, Xin Jiang, Tao Song, Wei Jiang, Xinlin Han, Jing Feng, Yanli Liu, Mengchao He   +11 more
wiley   +1 more source

Neurosteroids and GABA-A receptor function

Frontiers in Endocrinology, 2011
Neurosteroids represent a class of endogenous steroids that are synthesized in the brain, the adrenals and the gonads and have potent and selective effects on the GABAA-receptor.
Mingde eWang
doaj   +1 more source

Loss of oligodendrocyte ErbB receptor signaling leads to hypomyelination, reduced density of parvalbumin‐expressing interneurons, and inhibitory function in the auditory cortex

Glia, Volume 71, Issue 2, Page 187-204, February 2023., 2023
Main Point Loss of oligodendrocyte ErbB receptor signaling leads to A1 hypomyelination, reduced PV expression and density of PV+ neurons and synapses, hypoconnectivity of inhibitory circuits and shift of the E/I balance towards excitation. Abstract For a long time, myelin was thought to be restricted to excitatory neurons, and studies on dysmyelination
Beatriz C. Borges, Xiangying Meng, Patrick Long, Patrick O. Kanold, Gabriel Corfas   +4 more
wiley   +1 more source

Cryo-EM structure of the human α1β3γ2 GABAA receptor in a lipid bilayer

Nature, 2019
Type A γ-aminobutyric acid (GABAA) receptors are pentameric ligand-gated ion channels and the main drivers of fast inhibitory neurotransmission in the vertebrate nervous system1,2.
D. Laverty, Rooma Desai, T. Uchański, S. Masiulis, W. Stec, T. Malinauskas, J. Zivanov, E. Pardon, J. Steyaert, K. Miller, A. Aricescu   +10 more
semanticscholar   +1 more source

Gray and white matter astrocytes differ in basal metabolism but respond similarly to neuronal activity

Glia, Volume 71, Issue 2, Page 229-244, February 2023., 2023
Main Points Gray and white matter astrocytes have different basal NADH/NAD+ redox states and ATP levels. Metabolism of both cell populations responds similarly to neuronal activity. Glutamate induced ATP loss is prevented by increasing extracellular K+.
Susanne Köhler, Ulrike Winkler, Tabea Junge, Kristina Lippmann, Jens Eilers, Johannes Hirrlinger   +5 more
wiley   +1 more source

Neuronal Gamma-Aminobutyric Acid (GABA) Type A Receptors Undergo Cognate Ligand Chaperoning in the Endoplasmic Reticulum by Endogenous GABA

Frontiers in Cellular Neuroscience, 2015
GABAA receptors mediate fast inhibitory neurotransmission in the brain. Dysfunction of these receptors is associated with various psychiatric/neurological disorders and drugs targeting this receptor are widely used therapeutic agents.
Ping eWang, Randa S Eshaq, Charlie K. Meshul, Charlie K. Meshul, Cynthia eMoore, Cynthia eMoore, Rebecca L. Hood, Rebecca L. Hood, Nancy Jo Leidenheimer   +8 more
doaj   +1 more source