المؤلفون: Tan W, Park JV, Venugopal H, Lou JQ, Dias PS, Baldoni PL, Dite T, Moon KW, Keenan CR, Gurzau AD, Leis A, Yousef J, Vaibhav V, Dagley LF, Ang CS, Corso L, Davidovich C, Vervoort SJ, Smyth GK, Blewitt ME, Allan RS, Hinde E, D'Arcy S, Ryu JK, Shakeel S

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jun 28. Date of Electronic Publication: 2024 Jun 28.

نوع المنشور: Journal Article; Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Tapia Del Fierro A; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., den Hamer B; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Benetti N; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Jansz N; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Chen K; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Beck T; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia., Vanyai H; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK., Gurzau AD; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Daxinger L; Queensland Institute of Medical Research, Brisbane, QLD, Australia., Xue S; Department of Biological Sciences, National University of Singapore, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore., Ly TTN; Department of Biological Sciences, National University of Singapore, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore., Wanigasuriya I; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Iminitoff M; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Breslin K; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia., Oey H; Queensland Institute of Medical Research, Brisbane, QLD, Australia., Krom YD; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., van der Hoorn D; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Bouwman LF; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Johanson TM; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Ritchie ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Gouil QA; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Reversade B; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.; Genome Institute of Singapore, A*STAR, Singapore, Singapore., Prin F; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK., Mohun T; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., McGlinn E; EMBL Australia, Monash University, Clayton, VIC, Australia.; Australian Regenerative Medicine Institute, Monash University, Clayton, VIC, Australia., Murphy JM; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.; Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, VIC, Australia., Keniry A; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., de Greef JC; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia. blewitt@wehi.edu.au.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia. blewitt@wehi.edu.au.

المصدر: Nature communications [Nat Commun] 2023 Sep 25; Vol. 14 (1), pp. 5466. Date of Electronic Publication: 2023 Sep 25.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Chromatin*/genetics , Muscular Dystrophy, Facioscapulohumeral*/genetics , Chromosomal Proteins, Non-Histone*/genetics, Animals ; Mice ; Epigenomics ; Gene Silencing ; Genes, Homeobox

المؤلفون: Gurzau AD; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia., Horne CR; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia., Mok YF; Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, Victoria 3010, Australia., Iminitoff M; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia., Willson TA; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia., Young SN; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia., Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia., Murphy JM; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia.

المصدر: The Biochemical journal [Biochem J] 2021 Jul 16; Vol. 478 (13), pp. 2555-2569.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Published by Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 2984726R Publication Model: Print Cited Medium: Internet ISSN: 1470-8728 (Electronic) Linking ISSN: 02646021 NLM ISO Abbreviation: Biochem J Subsets: MEDLINE

مواضيع طبية MeSH: Protein Multimerization*, Chromatin/*metabolism , Chromosomal Proteins, Non-Histone/*chemistry , Chromosomal Proteins, Non-Histone/*metabolism, Adenosine Triphosphatases/genetics ; Adenosine Triphosphatases/metabolism ; Adenosine Triphosphate/metabolism ; Binding Sites/genetics ; Chromatin/genetics ; Chromosomal Proteins, Non-Histone/genetics ; HEK293 Cells ; Humans ; Immunoblotting ; Microscopy, Fluorescence ; Mutation ; Protein Binding ; Protein Domains ; Scattering, Small Angle ; Substrate Specificity ; Ubiquitin/chemistry ; Ubiquitin/metabolism ; X-Ray Diffraction

المؤلفون: Gurzau AD; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.; School of Biosciences, University of Melbourne, Melbourne, VIC 3010, Australia., Czabotar PE; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Murphy JM; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Birkinshaw RW; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.

المصدر: Biochemical Society transactions [Biochem Soc Trans] 2020 Aug 28; Vol. 48 (4), pp. 1751-1763.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Portland Press On The Behalf Of The Biochemical Society Country of Publication: England NLM ID: 7506897 Publication Model: Print Cited Medium: Internet ISSN: 1470-8752 (Electronic) Linking ISSN: 03005127 NLM ISO Abbreviation: Biochem Soc Trans Subsets: MEDLINE

مواضيع طبية MeSH: Epigenesis, Genetic*, Chromosomal Proteins, Non-Histone/*chemistry , Chromosomal Proteins, Non-Histone/*genetics, Adenosine Triphosphatases/metabolism ; Chromatin/metabolism ; Chromosomal Proteins, Non-Histone/metabolism ; Gene Silencing ; Humans ; Polymorphism, Single Nucleotide ; Protein Domains ; Structure-Activity Relationship

المؤلفون: Chen K; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Birkinshaw RW; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Gurzau AD; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Wanigasuriya I; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Wang R; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Iminitoff M; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Sandow JJ; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Young SN; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia., Hennessy PJ; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia., Willson TA; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Heckmann DA; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Webb AI; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Blewitt ME; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia. jamesm@wehi.edu.au blewitt@wehi.edu.au czabotar@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.; School of Biosciences, University of Melbourne, Melbourne, VIC 3010, Australia., Czabotar PE; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia. jamesm@wehi.edu.au blewitt@wehi.edu.au czabotar@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Murphy JM; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia. jamesm@wehi.edu.au blewitt@wehi.edu.au czabotar@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.

المصدر: Science signaling [Sci Signal] 2020 Jun 16; Vol. 13 (636). Date of Electronic Publication: 2020 Jun 16.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101465400 Publication Model: Electronic Cited Medium: Internet ISSN: 1937-9145 (Electronic) Linking ISSN: 19450877 NLM ISO Abbreviation: Sci Signal Subsets: MEDLINE

مواضيع طبية MeSH: Protein Multimerization*, Chromosomal Proteins, Non-Histone/*chemistry, Animals ; Chromosomal Proteins, Non-Histone/genetics ; Crystallography, X-Ray ; Mice ; Nucleic Acids/chemistry ; Nucleic Acids/metabolism ; Protein Domains ; Protein Structure, Quaternary ; Siblings

المؤلفون: Dion C; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Roche S; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Laberthonnière C; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Broucqsault N; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Mariot V; NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, 30 Guilford Street, London WC1N 1EH, UK., Xue S; Institute of Molecular and Cell Biology, A*STAR, Singapore. Institute of Medical Biology, A*STAR, Singapore., Gurzau AD; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; The Department of Medical Biology, University of Melbourne, Melbourne, Australia., Nowak A; Institut de Génétique Humaine UMR9002 CNRS-Université de Montpellier. France., Gordon CT; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Gaillard MC; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., El-Yazidi C; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Thomas M; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Schlupp-Robaglia A; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Département de Génétique Médicale et Biologie Cellulaire, AP-HM, Hôpital de la Timone enfants, Marseille, France.; Centre de ressources biologiques, AP-HM, Hôpital de la Timone enfants, Marseille, France., Missirian C; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Département de Génétique Médicale et Biologie Cellulaire, AP-HM, Hôpital de la Timone enfants, Marseille, France., Malan V; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Ratbi L; Centre de Génomique Humaine et Genopath, Faculté de Médecine et de Pharmacie, Université Mohammed V, 10100 Rabat, Morocco., Sefiani A; Centre de Génomique Humaine et Genopath, Faculté de Médecine et de Pharmacie, Université Mohammed V, 10100 Rabat, Morocco., Wollnik B; Institute of Human Genetics, University Medical Campus Göttingen, 37073 Göttingen, Germany., Binetruy B; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Salort Campana E; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Centre de références pour les maladies neuromusculaires et la SLA, AP-HM, Hôpital de la Timone, Marseille, France., Attarian S; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Centre de références pour les maladies neuromusculaires et la SLA, AP-HM, Hôpital de la Timone, Marseille, France., Bernard R; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Département de Génétique Médicale et Biologie Cellulaire, AP-HM, Hôpital de la Timone enfants, Marseille, France., Nguyen K; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Département de Génétique Médicale et Biologie Cellulaire, AP-HM, Hôpital de la Timone enfants, Marseille, France., Amiel J; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Dumonceaux J; NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, 30 Guilford Street, London WC1N 1EH, UK., Murphy JM; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; The Department of Medical Biology, University of Melbourne, Melbourne, Australia., Déjardin J; Institut de Génétique Humaine UMR9002 CNRS-Université de Montpellier. France., Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; The Department of Medical Biology, University of Melbourne, Melbourne, Australia., Reversade B; Institute of Molecular and Cell Biology, A*STAR, Singapore. Institute of Medical Biology, A*STAR, Singapore.; Department of Paediatrics, National University of Singapore, Singapore, Singapore.; Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey.; Reproductive Biology Laboratory, Academic Medical Center (AMC), Amsterdam-Zuidoost, The Netherlands., Robin JD; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Magdinier F; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.

المصدر: Nucleic acids research [Nucleic Acids Res] 2019 Apr 08; Vol. 47 (6), pp. 2822-2839.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: DNA Methylation*/genetics, Chromosomal Proteins, Non-Histone/*physiology , Homeodomain Proteins/*genetics , Microsatellite Repeats/*genetics, Cells, Cultured ; Cellular Reprogramming/genetics ; Choanal Atresia/genetics ; Choanal Atresia/metabolism ; Epigenesis, Genetic/genetics ; Gene Expression Regulation ; HCT116 Cells ; HEK293 Cells ; Homeodomain Proteins/metabolism ; Humans ; Male ; Microphthalmos/genetics ; Microphthalmos/metabolism ; Muscular Dystrophy, Facioscapulohumeral/genetics ; Muscular Dystrophy, Facioscapulohumeral/metabolism ; Muscular Dystrophy, Facioscapulohumeral/pathology ; Nose/abnormalities

SCR Disease Name: Arhinia, choanal atresia, and microphthalmia

المؤلفون: Gurzau AD; From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia.; the Departments of Medical Biology and., Chen K; From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia.; the Departments of Medical Biology and., Xue S; the Institute of Molecular and Cell Biology and.; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore., Dai W; From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia., Lucet IS; From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia.; the Departments of Medical Biology and., Ly TTN; the Institute of Molecular and Cell Biology and.; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore., Reversade B; the Institute of Molecular and Cell Biology and.; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.; the Department of Medical Genetics, Koç University School of Medicine (KUSoM), 34450 Sarıyer/Istanbul, Turkey.; the Department of Paediatrics, School of Medicine, National University of Singapore, Singapore, and.; Amsterdam Reproduction and Development, Academic Medical Centre and VU University Medical Center, 1105 AZ Amsterdam, The Netherlands., Blewitt ME; From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia, blewitt@wehi.edu.au.; the Departments of Medical Biology and.; Genetics, University of Melbourne, Parkville, Victoria 3052, Australia., Murphy JM; From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia, jamesm@wehi.edu.au.; the Departments of Medical Biology and.

المصدر: The Journal of biological chemistry [J Biol Chem] 2018 Jun 22; Vol. 293 (25), pp. 9841-9853. Date of Electronic Publication: 2018 May 10.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Adenosine Triphosphate/*metabolism , Choanal Atresia/*genetics , Chromosomal Proteins, Non-Histone/*chemistry , Chromosomal Proteins, Non-Histone/*metabolism , Eye Diseases/*pathology , Microphthalmos/*genetics , Muscular Dystrophy, Facioscapulohumeral/*genetics , Nose/*abnormalities, Adenosine Triphosphatases ; Amino Acid Sequence ; Animals ; Choanal Atresia/pathology ; Chromosomal Proteins, Non-Histone/genetics ; Crystallography, X-Ray ; Eye Diseases/genetics ; Eye Diseases/metabolism ; Humans ; Mice ; Microphthalmos/pathology ; Muscular Dystrophy, Facioscapulohumeral/pathology ; Nose/pathology ; Protein Conformation ; Protein Domains ; Sequence Homology ; Xenopus laevis

SCR Disease Name: Arhinia, choanal atresia, and microphthalmia

المؤلفون: Gordon CT; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France., Xue S; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Filali H; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco., Chen K; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia., Rosin N; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Yoshiura KI; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Oufadem M; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France., Beck TJ; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia., McGowan R; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Magee AC; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Dion C; Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany., Gurzau AD; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia., Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Meschede D; Praxis für Humangenetik, Cologne, Germany., Mühlbauer W; Plastische und Ästhetische Chirurgie, ATOS Klinik München, Munich, Germany., Okamoto N; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan., Varghese V; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Irving R; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Sigaudy S; Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille, France., Williams D; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK., Ahmed SF; Developmental Endocrinology Research Group, University of Glasgow, RHC, Glasgow, UK., Bonnard C; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore., Kong MK; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore., Ratbi I; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco., Fejjal N; Service de Chirurgie Plastique Pédiatrique, Hôpital d'Enfants, CHU Ibn Sina, Mohammed V University, Rabat, Morocco., Fikri M; Service de Neuroradiologie, Hôpital des Spécialités, CHU Ibn Sina, Mohammed V University, Rabat, Morocco., Elalaoui SC; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.; Département de Génétique Médical, Institut National d'Hygiène, Rabat, Morocco., Reigstad H; Neonatal Intensive Care Unit, Children's Department, Haukeland University Hospital, Bergen, Norway., Bole-Feysot C; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.; Genomic Platform, INSERM UMR 1163, Institut Imagine, Paris, France., Nitschké P; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France., Ragge N; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK., Lévy N; Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.; Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille, France., Tunçbilek G; Department of Plastic, Reconstructive and Aesthetic Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey., Teo AS; Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore., Cunningham ML; University of Washington Department of Pediatrics, Division of Craniofacial Medicine and Seattle Children's Hospital Craniofacial Center, Seattle, Washington, USA., Sefiani A; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.; Département de Génétique Médical, Institut National d'Hygiène, Rabat, Morocco., Kayserili H; Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey., Murphy JM; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia., Chatdokmaiprai C; Plastic and Maxillofacial Surgery, Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Hillmer AM; Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore., Wattanasirichaigoon D; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Lyonnet S; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Magdinier F; Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France., Javed A; Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore., Blewitt ME; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia., Amiel J; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany., Reversade B; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore.; Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Department of Paediatrics, School of Medicine, National University of Singapore, Singapore.; Amsterdam Reproduction and Development, Academic Medical Centre and VU University Medical Center, Amsterdam, the Netherlands.

المصدر: Nature genetics [Nat Genet] 2017 Feb; Vol. 49 (2), pp. 249-255. Date of Electronic Publication: 2017 Jan 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Choanal Atresia/*genetics , Chromosomal Proteins, Non-Histone/*genetics , Microphthalmos/*genetics , Mutation, Missense/*genetics , Nose/*abnormalities, Animals ; Cell Line ; Child, Preschool ; Epigenesis, Genetic/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Muscular Dystrophy, Facioscapulohumeral/genetics ; Xenopus laevis/genetics

SCR Disease Name: Arhinia, choanal atresia, and microphthalmia