المؤلفون: Andres Tapia del Fierro, Bianca den Hamer, Natalia Benetti, Natasha Jansz, Kelan Chen, Tamara Beck, Hannah Vanyai, Alexandra D. Gurzau, Lucia Daxinger, Shifeng Xue, Thanh Thao Nguyen Ly, Iromi Wanigasuriya, Megan Iminitoff, Kelsey Breslin, Harald Oey, Yvonne D. Krom, Dinja van der Hoorn, Linde F. Bouwman, Timothy M. Johanson, Matthew E. Ritchie, Quentin A. Gouil, Bruno Reversade, Fabrice Prin, Timothy Mohun, Silvère M. van der Maarel, Edwina McGlinn, James M. Murphy, Andrew Keniry, Jessica C. de Greef, Marnie E. Blewitt

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-22 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/4b268abe87144921872eecf80d018c13

المؤلفون: R Tomoaia, R S Beyer, D Zdrenghea, A Dadarlat-Pop, G R Cismaru, G R Gusetu, I A Minciuna, F I Fringu, G R Simu, D Gurzau, B Caloian, D H Comsa, R Rosu, D Pop

المصدر: European Journal of Preventive Cardiology. 30

مصطلحات موضوعية: Epidemiology, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::957f939e5bdd3f47d8b04704b0dbc072
https://doi.org/10.1093/eurjpc/zwad125.120

المؤلفون: F Fringu, C Sturz, R Tomoaia, D Zdrenghea, D Horvat, B Caloian, H Comsa, R Rosu, G Cismaru, G Gusetu, D Gurzau, M Ursu, G Simu, S Ivan, D Pop

المصدر: European Journal of Preventive Cardiology. 30

مصطلحات موضوعية: Epidemiology, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::816d7719e574a8a1d824f73b49f1df5a
https://doi.org/10.1093/eurjpc/zwad125.336

المؤلفون: Christopher R Horne, James M. Murphy, Yee-Foong Mok, Tracy A. Willson, Alexandra D. Gurzau, Megan Iminitoff, Marnie E. Blewitt, Samuel N. Young

المصدر: Biochemical Journal

مصطلحات موضوعية: Chromosomal Proteins, Non-Histone, Immunoblotting, Protein domain, protein–protein interactions, Plasma protein binding, nucleic acid binding proteins, Biochemistry, Substrate Specificity, Protein–protein interaction, 03 medical and health sciences, Adenosine Triphosphate, 0302 clinical medicine, Protein Domains, X-Ray Diffraction, Biochemical Techniques & Resources, Ubiquitin, Scattering, Small Angle, Humans, Gene silencing, Molecular Biology, Research Articles, 030304 developmental biology, Adenosine Triphosphatases, 0303 health sciences, Binding Sites, GHKL ATPase, biology, Chemistry, HEK 293 cells, SMC protein, Cell Biology, Chromatin, Cell biology, SMC proteins, HEK293 Cells, Microscopy, Fluorescence, Mutation, Enzymology, biology.protein, Epigenetics, UBL domain, Protein Multimerization, 030217 neurology & neurosurgery, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9172050cb016cbd5d70994b8e67902aa
https://doi.org/10.1042/bcj20210278

المؤلفون: Fabrice Prin, Shifeng Xue, Yvonne D. Krom, Benetti N, Matthew E. Ritchie, Andrew Keniry, Natasha Jansz, de Greef Jc, Bouwman Lf, Tamara Beck, den Hamer B, Hannah Vanyai, Kelan Chen, Timothy J. Mohun, Edwina McGlinn, Tapia del Fierro A, James M. Murphy, Kelsey Breslin, van der Hoorn D, Harald Oey, Marnie E. Blewitt, Alexandra D. Gurzau, Lucia Daxinger, van der Maarel Sm, Wanigasuriya I, Bruno Reversade, Nguyen Ly Tt

مصطلحات موضوعية: biology, SMC protein, Mutant, biology.protein, Gene silencing, Epigenetics, Homeotic gene, PRC2, Hox gene, Cell biology, Chromatin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::122339533082382fd1db20eccc936dfd
https://doi.org/10.1101/2021.05.12.443934

المؤلفون: James M. Murphy, Andrew I. Webb, Tracy A. Willson, Jarrod J. Sandow, Alexandra D. Gurzau, Patrick J. Hennessy, Denise A. Heckmann, Samuel N. Young, Marnie E. Blewitt, Peter E. Czabotar, Iromi Wanigasuriya, Richard W Birkinshaw, Megan Iminitoff, Ruoyun Wang, Kelan Chen

المصدر: Science Signaling. 13

مصطلحات موضوعية: Chromosomal Proteins, Non-Histone, Protein domain, Regulator, Hinge, Computational biology, Crystallography, X-Ray, Biochemistry, Mice, 03 medical and health sciences, 0302 clinical medicine, Protein structure, Protein Domains, Nucleic Acids, medicine, Animals, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Protein Structure, Quaternary, Molecular Biology, 030304 developmental biology, 0303 health sciences, Chemistry, Siblings, Cell Biology, medicine.disease, Chromatin, Nucleic acid, Protein Multimerization, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45a51a5545b8da2159c6452773b69ae
https://doi.org/10.1126/scisignal.aaz5599

المؤلفون: Camille Dion, Stéphane Roche, Camille Laberthonnière, Natacha Broucqsault, Virginie Mariot, Shifeng Xue, Alexandra D Gurzau, Agnieszka Nowak, Christopher T Gordon, Marie-Cécile Gaillard, Claire El-Yazidi, Morgane Thomas, Andrée Schlupp-Robaglia, Chantal Missirian, Valérie Malan, Liham Ratbi, Abdelaziz Sefiani, Bernd Wollnik, Bernard Binetruy, Emmanuelle Salort Campana, Shahram Attarian, Rafa

المصدر: Nucleic Acids Research

URL الوصول: https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::695ed91050c08f577800232398c4d599

المؤلفون: Isabelle S Lucet, Thanh Thao Nguyen Ly, James M. Murphy, Marnie E. Blewitt, Kelan Chen, Alexandra D. Gurzau, Weiwen Dai, Shifeng Xue, Bruno Reversade

المساهمون: ARD - Amsterdam Reproduction and Development, ACS - Diabetes & metabolism, Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, Reversade, Bruno, Gurzau, Alexandra D., Chen, Kelan, Xue, Shifeng, Dai, Weiwen, Lucet, Isabelle S., Thanh Thao Nguyen Ly, Blewitt, Marnie E., Murphy, James M., School of Medicine, Department of Histology and Embryology, Obstetrics and gynaecology

المصدر: Journal of biological chemistry, 293(25), 9841-9853. American Society for Biochemistry and Molecular Biology Inc.
Journal of Biological Chemistry
Gurzau, A D, Chen, K, Xue, S, Dai, W, Lucet, I S, Ly, T T N, Reversade, B, Blewitt, M E & Murphy, J M 2018, ' FSHD2-and BAMS-associated mutations confer opposing effects on SMCHD1 function ', Journal of Biological Chemistry, vol. 293, no. 25, pp. 9841-9853 . https://doi.org/10.1074/jbc.RA118.003104
Journal of Biological Chemistry, 293(25), 9841-9853. American Society for Biochemistry and Molecular Biology Inc.

مصطلحات موضوعية: 0301 basic medicine, Eye Diseases, Chromosomal Proteins, Non-Histone, Protein Conformation, ATPase, Xenopus, Mutation, Missense, Sequence Homology, Nose, medicine.disease_cause, Crystallography, X-Ray, Biochemistry, Choanal Atresia, 03 medical and health sciences, Mice, Xenopus laevis, 0302 clinical medicine, Adenosine Triphosphate, Protein Domains, medicine, Facioscapulohumeral muscular dystrophy, Missense mutation, Animals, Humans, Microphthalmos, Epigenetics, Amino Acid Sequence, Muscular dystrophy, Molecular Biology, Loss function, Adenosine Triphosphatases, Mutation, biology, food and beverages, Cell Biology, biology.organism_classification, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Cell biology, 030104 developmental biology, Small-angle X-ray scattering (SAXS), Craniofacial development, SMC, Hinge domain, biology.protein, Enzymology, Biochemistry and molecular biology, 030217 neurology & neurosurgery

وصف الملف: pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa00bdbf90bf844135f56757c798b8b1
https://pure.amc.nl/en/publications/fshd2-and-bamsassociated-mutations-confer-opposing-effects-on-smchd1-function(fd62d00f-5ca9-4117-b10e-9c8ed3d3195e).html

المؤلفون: Duangrurdee Wattanasirichaigoon, Frédérique Magdinier, Axel M. Hillmer, Mung Kei Kong, Sabine Sigaudy, Myriam Oufadem, Hicham Filali, Hülya Kayserili, Christopher T. Gordon, Denise Williams, Peter Nürnberg, Carine Bonnard, Stanislas Lyonnet, Camille Dion, Siham Chafai Elalaoui, Jeanne Amiel, Audrey S.M. Teo, Nobuhiko Okamoto, Bruno Reversade, Asif Javed, Dieter Meschede, Alex Magee, Abdelaziz Sefiani, Rachel E A Irving, Alexandra D. Gurzau, James M. Murphy, Nicola K. Ragge, Bernd Wollnik, Gökhan Tunçbilek, Koh-ichiro Yoshiura, Chalermpong Chatdokmaiprai, Tamara Beck, Hallvard Reigstad, Christine Bole-Feysot, Kelan Chen, Nicolas Lévy, Michael L. Cunningham, Nadine Rosin, Ruth McGowan, Holger Thiele, Janine Altmüller, Vinod Varghese, Nawfal Fejjal, Patrick Nitschké, Ilham Ratbi, Marnie E. Blewitt, Gökhan Yigit, Wolfgang Mühlbauer, Meriem Fikri, Shifeng Xue, S Faisal Ahmed

المساهمون: Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Department of Clinical Genetics, Leicester Royal Infirmary, Universität zu Köln, Génétique Médicale et Génomique Fonctionnelle ( GMGF ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Plate Forme Paris Descartes de Bioinformatique ( BIP-D ), Université Paris Descartes - Paris 5 ( UPD5 ), Department of Medical Genetics, Istanbul University, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, ACS - Diabetes & metabolism, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Nagasaki University, University Hospitals Leicester-University Hospitals Leicester, Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Plate Forme Paris Descartes de Bioinformatique (BIP-D), Université Paris Descartes - Paris 5 (UPD5), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Universität zu Köln = University of Cologne, Roche, Stephane

المصدر: Nature Genetics
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. 〈10.1038/ng.3765〉
Nature genetics, 49(2), 249-255. Nature Publishing Group
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩

مصطلحات موضوعية: Male, 0301 basic medicine, MESH : Cell Line, Embryology, Chromosomal Proteins, Non-Histone, Xenopus, MESH : Child, Preschool, medicine.disease_cause, Epigenesis, Genetic, MESH: Choanal Atresia, MESH : Microphthalmos, Mice, Xenopus laevis, 0302 clinical medicine, MESH : Xenopus laevis, Microphthalmos, Facioscapulohumeral muscular dystrophy, Missense mutation, MESH: Animals, MESH : Female, MESH: Epigenesis, Genetic, MESH : Epigenesis, Genetic, Muscular dystrophy, [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics, nasal development, Genetics, Mutation, biology, Medical genetics, MESH: Genetic Predisposition to Disease, [SDV.BDD.EO] Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, MESH: Nose, food and beverages, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, MESH : Muscular Dystrophy, Facioscapulohumeral, Genetic linkage study, Child, Preschool, MESH : Choanal Atresia, Female, Epigenetics, MESH : Nose, MESH : Chromosomal Proteins, Non-Histone, medicine.medical_specialty, MESH: Microphthalmos, MESH : Male, Mutation, Missense, MESH: Muscular Dystrophy, Facioscapulohumeral, MESH : Mice, Inbred C57BL, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Nose, Choanal Atresia, Cell Line, 03 medical and health sciences, MESH: Mice, Inbred C57BL, MESH: Xenopus laevis, MESH: Chromosomal Proteins, Non-Histone, MESH : Mice, medicine, Bosma arhinia microphthalmia syndrome, Animals, Humans, Genetic Predisposition to Disease, Allele, MESH: Mice, MESH: Mutation, Missense, FSHD, MESH: Humans, SMCHD1, MESH: Child, Preschool, MESH : Humans, medicine.disease, biology.organism_classification, MESH: Male, MESH: Cell Line, Mice, Inbred C57BL, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [ SDV.BDD.EO ] Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, MESH : Genetic Predisposition to Disease, MESH : Animals, MESH: Female, 030217 neurology & neurosurgery, MESH : Mutation, Missense

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a5d4299acf7797337cbb50e49b05342
https://hal.archives-ouvertes.fr/hal-01617529/document

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