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Antibody mediated neutralization of myelin associated EphrinB3 accelerates CNS remyelination

Yasir A Syed, Chao Zhao, Don Mahad, Wiebke Möbius, Friedrich Altmann, Franziska Foss, Aycan Sentürk, Amparo Acker-Palmer, Gert Lubec, Kathryn Lilley, Robin Jm Franklin, Klaus- A Nave, Mark RN Kotter

Oct 13, 2015

remyelination EphrinB3 Oligodendrocytes Multiple Sclerosis

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Digenic DUOX1 and DUOX2 mutations in cases with congenital hypothyroidism

Z Aycan, H Cangul, M Muzza, VN Bas, L Fugazzola, VK Chatterjee, L Persani, N Schoenmakers

Aug 01, 2017

Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the TPO-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in...

Codon Nonsense Cohort Studies congenital hypothyroidism Dual Oxidases Female Genetic Predisposition to Disease genetic variation Genotype Humans Infant Infant Newborn Male NADPH Oxidases Pedigree Phenotype Retrospective Studies Severity of Illness Index Thyroid Function Tests

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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

Adeline K Nicholas, Eva G Serra, Hakan Cangul, Saif Alyaarubi, Irfan Ullah, Erik Schoenmakers, Asma Deeb, Abdelhadi M Habeb, Mohammad Almaghamsi, Catherine Peters, Nisha Nathwani, Zehra Aycan, Halil Saglam, Ece Bober, Mehul Dattani, Savitha Shenoy, Philip G Murray, Amir Babiker, Ruben Willemsen, Ajay Thankamony, Greta Lyons, Rachael Irwin, Raja Padidela, Kavitha Tharian, Justin H Davies, Vijith Puthi, Soo-Mi Park, Ahmed F Massoud, John W Gregory, Assunta Albanese, Evelien Pease-Gevers, Howard Martin, Kim Brugger, Eamonn R Maher, V Krishna K Chatterjee, Carl A Anderson, Nadia Schoenmakers

Sep 30, 2016

Autoantigens congenital hypothyroidism Humans Iodide Peroxidase Iron-Binding Proteins Mutation Pedigree Phenotype Receptors Thyrotropin Thyroglobulin

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