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Cobblestone Lissencephaly 3
 
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dolichyl-phosphate-mannose-protein mannosyltransferase activity 1
 
dolichyl-phosphate-mannose-protein mannosyltransferase complex 1
 
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Phenotype 3
 
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detection of endoplasmic reticulum overloading 1
 
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5 documents found
1: Title: Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins.
Journal: Proceedings of the National Academy of Sciences of the United States of America (Proc Natl Acad Sci U S A), 2017 .
Snippet: KO of all four TMTC genes in HEK293 cells resulted in specific loss of cdh and pcdh O-Man glycosylation, whereas combined KO of TMTC1 and TMTC3 resulted in selective loss of O-Man glycans on specific β-strands of EC domains, suggesting that each isoenzyme serves a different function.
Affiliation: Department of Cellular and Molecular Medicine, Faculty of Health Sciences, Copenhagen Center for Glycomics, University of Copenhagen, DK-2200 Copenhagen, Denmark. Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY 10032. Zuckerman Mind Brain Behavior Institute, Columbia University, New York, NY 10032. Department of Systems Biology, Columbia University, New York, NY 10032. Howard Hughes Medical Institute, Columbia University, New York, NY 10032. Department of Cellular and Molecular Medicine, Faculty of Health Sciences, Copenhagen Center for Glycomics, University of Copenhagen, DK-2200 Copenhagen, Denmark; halim@sund.ku.dk. .
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2: Title: Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
Authors: Farhan, Sali M K, et.al. .
Journal: Human molecular genetics (Hum Mol Genet), 2017 .
Snippet: TMTC3 is localized at VGAT positive pre-synaptic terminals and boutons in the rat hypothalamus and piriform cortex, suggesting a role for TMTC3 in regulation of GABAergic inhibitory synapses.
Affiliation: Molecular Medicine Research Group, Robarts Research Institute, London, Ontario, Canada. Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Division of Genetics and Development, Children's Health Research Institute, London, Ontario, Canada. Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre Nijmegen, The Netherlands. Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Department of Medical Imaging, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Departments of Clinical Neurological Sciences, Physiology and Pharmacology, Medical Biophysics, Medical Imaging and Psychology, Western University, London, Ontario, Canada. Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada. Department of Biology, Faculty of Science, Western University, London, Ontario, Canada. .
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3: Title: Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Authors: Jerber, Julie, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 99 (5): 1181-1189, 2016 .
Snippet: However, the minority of the affected individuals had eye defects or elevated muscle creatine phosphokinase, separating the TMTC3 COB phenotype from typical congenital muscular dystrophies.
Affiliation: Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt. Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah 21453, Saudi Arabia; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah 21453, Saudi Arabia. Clinical and Metabolic Genetics Section, Department of Pediatrics, Hamad Medical Corporation, PO Box 3050, Doha, Qatar; Weill Cornell Medical College, Qatar, Education City, PO Box 24144, Doha, Qatar. Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA. Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany. Howard Hughes Medical Institute, Departments of Neurology, Internal Medicine, and Molecular Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242-1101, USA. Department of Medical Genetics, School of Medicine, Istanbul Bilim University, Istanbul 34394, Turkey. Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, School of Medicine, Yale University, New Haven, CT 06510, USA. Department of Genetics, School of Medicine, Ondokuz Mayis University, 55000 Samsun, Turkey. Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Philipp-Rosenthal-Str. 55, 04103 Leipzig, Germany; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address: jogleeson@mail.rockefeller.edu. .
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4: Title: A whole genomic scan to detect selection signatures between Berkshire and Korean native pig breeds.
Authors: Edea, Zewdu, et.al. .
Journal: Journal of animal science and technology (Unknown Journal), Vol. 56, 2014 .
Snippet: We have identified a set of candidate genes under selection and have known to be involved in growth, size and pork quality (CART, AGL, CF7L2, MAP2K5, DLK1, GLI3, CA3 and MC3R), ear morphology and size (HMGA2 and SOX5) stress response (ATF2, MSRB3, TMTC3 and SCAF8) and immune response ( HCST and RYR1).
Affiliation: Department of Animal Science, Chungbuk National University, Cheongju, 361-763 Korea. .
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5: Title: The involvement of SMILE/TMTC3 in endoplasmic reticulum stress response.
Authors: Racapé, Maud, et.al. .
Journal: PloS one, Vol. 6 (5): e19321, 2011 .
Snippet: The aim of the present study is to analyze the role of one of these molecules over-expressed in the blood of operationally tolerant patients, SMILE or TMTC3, a protein whose function is still unknown.
Affiliation: Institut National de la Santé Et de la Recherche Médicale Unité Mixte de Recherche 643, Nantes, France. .
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