المؤلفون: Shi, Chenfu, Ray-Jones, Helen, Ding, James, Duffus, Kate, Fu, Yao, Gaddi, Vasanthi Priyadarshini, Gough, Oliver, Hankinson, Jenny, Martin, Paul, McGovern, Amanda, Yarwood, Annie, Gaffney, Patrick, Eyre, Steve, Rattray, Magnus, Warren, Richard B, Orozco, Gisela

المصدر: Shi , C , Ray-Jones , H , Ding , J , Duffus , K , Fu , Y , Gaddi , V P , Gough , O , Hankinson , J , Martin , P , McGovern , A , Yarwood , A , Gaffney , P , Eyre , S , Rattray , M , Warren , R B & Orozco , G 2021 , ' Chromatin Looping Links Target Genes with Genetic Risk Loci for Dermatological Traits ' , The Journal of Investigative Dermatology , vol. 141 , no. 8 , pp. 1975-1984 . https://doi.org/10.1016/j.jid.2021.01.015

مصطلحات موضوعية: Cell Line, Tumor, Chromatin/genetics, Chromatin Assembly and Disassembly/genetics, DNA-Binding Proteins/genetics, Datasets as Topic, Enhancer Elements, Genetic, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Promoter Regions, Quantitative Trait Loci, Receptors, Interferon/genetics, Skin Diseases/genetics, Transcription Factors/genetics

الاتاحة: https://research.manchester.ac.uk/en/publications/91e6427b-0c9e-4dfa-8686-9d2cb38a339a
https://doi.org/10.1016/j.jid.2021.01.015

المؤلفون: Bompadre, Olimpia, Andrey, Guillaume

المصدر: ISSN: 0959-437X ; Current Opinion in Genetics & Development, vol. 55 (2019) p. 32-38.

مصطلحات موضوعية: info:eu-repo/classification/ddc/590, info:eu-repo/classification/ddc/576.5, Animals, Chromatin Assembly and Disassembly / genetics, Chromosomes / genetics, Enhancer Elements, Genetic, Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Promoter Regions

Relation: info:eu-repo/semantics/altIdentifier/pmid/31125724; https://archive-ouverte.unige.ch/unige:118013; unige:118013

الاتاحة: https://archive-ouverte.unige.ch/unige:118013

المؤلفون: Duran, Daniel, Zeng, Xue, Jin, Sheng Chih, Choi, Jungmin, Nelson-Williams, Carol, Yatsula, Bogdan, Gaillard, Jonathan, Furey, Charuta Gavankar, Lu, Qiongshi, Timberlake, Andrew T, Dong, Weilai, Sorscher, Michelle A, Loring, Erin, Klein, Jennifer, Allocco, August, Hunt, Ava, Conine, Sierra, Karimy, Jason K, Youngblood, Mark W, Zhang, Jinwei, DiLuna, Michael L, Matouk, Charles C, Mane, Shrikant, Tikhonova, Irina R, Castaldi, Christopher, López-Giráldez, Francesc, Knight, James, Haider, Shozeb, Soban, Mariya, Alper, Seth L, Komiyama, Masaki, Ducruet, Andrew F

المصدر: Translational Neuroscience

مصطلحات موضوعية: EPHB4, Vein of Galen malformation, arterio-venous malformation, chromatin modifier, de novo mutations, ephrin signaling, pediatric neurosurgery, whole exome sequencing, Chromatin Assembly and Disassembly (genetics), Ephrins (metabolism), Female, Humans, Male, Membrane Glycoproteins (genetics), Metalloendopeptidases (genetics), Mutation, Pedigree, Penetrance, Receptor, EphB4 (genetics), Signal Transduction, Vein of Galen Malformations (genetics, pathology)

Relation: https://scholar.barrowneuro.org/neurobiology/2133

الاتاحة: https://scholar.barrowneuro.org/neurobiology/2133

المؤلفون: Huret, Jean-Loup

المساهمون: Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

مصطلحات موضوعية: chromosome 2, t(2, 2)(p22, p22), LTBP1, BIRC6, breast cancer, lung cancer, Tumors Section, Cell Transformation, Neoplastic/*genetics, Chromatin Assembly and Disassembly/genetics, Computational Biology, DNA Mutational Analysis/methods, Gene Expression Profiling, Genetic Heterogeneity, Humans, Molecular Targeted Therapy/methods, Neoplasms/classification/*genetics/*therapy, Oncogene Proteins, Fusion/*genetics, RNA, Messenger/genetics, Neoplasm/genetics, Sequence Alignment, Adenocarcinoma/*pathology, Adolescent

Relation: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Tumors/t0202p22p22ID5476.html; Jean-Loup, Huret. t(2;2)(p22;p22) LTBP1/BIRC6::del(2)(p22p22) LTBP1/BIRC6. Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2018, 5, p. 218-219; http://hdl.handle.net/2042/68906; https://doi.org/10.4267/2042/68906

الاتاحة: http://hdl.handle.net/2042/68906
https://doi.org/10.4267/2042/68906

المؤلفون: Huret, Jean-Loup

المساهمون: Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

مصطلحات موضوعية: chromosome 2, t(2, 2)(p22, p22), LTBP1, BIRC6, acute myeloid leukemia, Leukaemia Section, Cell Transformation, Neoplastic/*genetics, Chromatin Assembly and Disassembly/genetics, Computational Biology, DNA Mutational Analysis/methods, Gene Expression Profiling, Genetic Heterogeneity, Humans, Molecular Targeted Therapy/methods, Neoplasms/classification/*genetics/*therapy, Oncogene Proteins, Fusion/*genetics, RNA, Messenger/genetics, Neoplasm/genetics

Relation: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Anomalies/t0202p22p22ID1714.html; Jean-Loup, Huret. t(2;2)(p22;p22) LTBP1/BIRC6::del(2)(p22p22) LTBP1/BIRC6. Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2017, 10, p. 363-364; http://hdl.handle.net/2042/68738; https://doi.org/10.4267/2042/68738

الاتاحة: http://hdl.handle.net/2042/68738
https://doi.org/10.4267/2042/68738

المؤلفون: Undiagnosed Diseases Network

المساهمون: Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek

مصطلحات موضوعية: Adolescent, BRCA1 Protein/genetics, Child, Preschool, Chromatin Assembly and Disassembly/genetics, Chromatin/chemistry, Family, Female, Gene Expression Regulation, Germ-Line Mutation, Heterozygote, Histones/genetics, Host Cell Factor C1/genetics, Humans, Infant, Loss of Function Mutation, Male, Mutation, Missense, Neurodevelopmental Disorders/genetics, Proteasome Endopeptidase Complex/genetics, T-Lymphocytes/immunology, Tumor Suppressor Proteins/deficiency, Ubiquitin Thiolesterase/deficiency, Ubiquitin-Protein Ligases/genetics, Ubiquitin/genetics, Ubiquitination, chromatin remodeling, BRCA1, neurodevelopment

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/446150

الاتاحة: https://dspace.library.uu.nl/handle/1874/446150

المؤلفون: Dias, Cristina, Estruch, Sara B, Graham, Sarah A, McRae, Jeremy, Sawiak, Stephen J, Hurst, Jane A, Joss, Shelagh K, Holder, Susan E, Morton, Jenny E V, Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F, Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E, Fisher, Simon E, Logan, Darren W.

المصدر: Dias , C , Estruch , S B , Graham , S A , McRae , J , Sawiak , S J , Hurst , J A , Joss , S K , Holder , S E , Morton , J E V , Turner , C , Thevenon , J , Mellul , K , Sánchez-Andrade , G , Ibarra-Soria , X , Deriziotis , P , Santos , R F , Lee , S-C , Faivre , L , Kleefstra , T , Liu , P , Hurles , M E & Fisher , S E & ....

مصطلحات موضوعية: Animals, Carrier Proteins/chemistry, Cerebral Cortex/metabolism, Chromatin Assembly and Disassembly/genetics, Codon, Nonsense/genetics, Cognition Disorders/genetics, Frameshift Mutation/genetics, Haploinsufficiency/genetics, Hippocampus/metabolism, Humans, Intellectual Disability/genetics, Male, Mice, Microcephaly/genetics, Mutation, Missense/genetics, Neurodevelopmental Disorders/genetics, Nuclear Proteins/chemistry, Phenotype, Social Behavior, Syndrome, Transcription Factors/chemistry, Transcription, Genetic, Transcriptome

وصف الملف: application/pdf

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/7bac2c7b-2843-4c7e-b9b7-d21307408416
https://doi.org/10.1016/j.ajhg.2016.05.030
https://kclpure.kcl.ac.uk/ws/files/141954613/BCL11A_Haploinsufficiency_Causes_DIAS_Publishedonline21July2016_GOLD_VoR_CC_BY_.pdf
http://www.scopus.com/inward/record.url?scp=84994127960&partnerID=8YFLogxK

المؤلفون: C. Peter Verrijzer, Adrian P. Bracken, Gerard L. Brien

المساهمون: Biochemistry

المصدر: Genes & Development, 33(15-16), 936-959. Cold Spring Harbor Laboratory Press
Bracken, A P, Brien, G L & Verrijzer, C P 2019, ' Dangerous liaisons : interplay between SWI/SNF, NuRD, and Polycomb in chromatin regulation and cancer ', Genes & Development, vol. 33, no. 15-16, pp. 936-959 . https://doi.org/10.1101/gad.326066.119

مصطلحات موضوعية: Histone-modifying enzymes, Chromosomal Proteins, Non-Histone, Polycomb-Group Proteins, Polycomb-Group Proteins/metabolism, Chromosomal Proteins, Non-Histone/metabolism, macromolecular substances, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Neoplasms, Genetics, medicine, Animals, Humans, Nucleosome, Transcription Factors/metabolism, Psychological repression, 030304 developmental biology, Special Section: Review, Regulation of gene expression, 0303 health sciences, Chromatin Assembly and Disassembly/genetics, fungi, Gene Expression Regulation, Developmental, Cancer, Chromatin Assembly and Disassembly, medicine.disease, SWI/SNF, Chromatin, Cell biology, Mi-2 Nucleosome Remodeling and Deacetylase Complex/metabolism, 030220 oncology & carcinogenesis, Neoplasms/physiopathology, Carcinogenesis, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Transcription Factors, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06eafcc02254f591bbb2ec0f8800ba10
https://doi.org/10.1101/gad.326066.119

المؤلفون: Rolando, Monica, Rusniok, Christophe, Margueron, Raphael, Buchrieser, Carmen

المساهمون: Biologie des Bactéries intracellulaires - Biology of Intracellular Bacteria, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Génétique et Biologie du Développement, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Curie Paris -Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Ces travaux étaient financés par l’Institut Pasteur, le Centre national de la recherche scientifique (CNRS), l’Institut Carnot-Pasteur MI, la Fondation pour la recherche médicale (FRM, grant n° DEQ20120323697), l’île-de-France (DIM Malinf), l’ANR (n°ANR-10-LABX-62-IBEID), le programme ATIP-Avenir et l’Institut Curie. Monica Rolando est financée par une bourse Roux de l’Institut Pasteur., ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010)

المصدر: ISSN: 0767-0974.

مصطلحات موضوعية: MESH: Bacterial Proteins/metabolism, MESH: Bacterial Proteins/physiology, MESH: Humans, MESH: Legionella pneumophila/physiology, MESH: Legionnaires' Disease/genetics, MESH: Legionnaires' Disease/immunology, MESH: Macrophages/microbiology, MESH: Methylation, MESH: Chromatin Assembly and Disassembly/genetics, MESH: Epigenesis, Genetic/physiology, MESH: Histone-Lysine N-Methyltransferase/metabolism, MESH: Histones/metabolism, MESH: Host-Pathogen Interactions/genetics, [SDV.BC]Life Sciences [q-bio]/Cellular Biology

Relation: info:eu-repo/semantics/altIdentifier/pmid/24148121; pasteur-01331725; https://pasteur.hal.science/pasteur-01331725; https://pasteur.hal.science/pasteur-01331725/document; https://pasteur.hal.science/pasteur-01331725/file/medsci20132910p843.pdf; PUBMED: 24148121

الاتاحة: https://pasteur.hal.science/pasteur-01331725
https://pasteur.hal.science/pasteur-01331725/document
https://pasteur.hal.science/pasteur-01331725/file/medsci20132910p843.pdf
https://doi.org/10.1051/medsci/20132910010

المساهمون: Zhi Jiang Zang, Ioana Cutcutache, Song Ling Poon, Shen Li Zhang, John R McPherson, Jiong Tao, Vikneswari Rajasegaran, Hong Lee Heng, Niantao Deng, Anna Gan, Kiat Hon Lim, Choon Kiat Ong, DaChuan Huang, Sze Yung Chin, Iain Beehuat Tan, Cedric Chuan Young Ng, Willie Yu, Yingting Wu, Minghui Lee, Jeanie Wu, Dianne Poh, Wei Keat Wan, Sun Young Rha, Jimmy So, Manuel Salto-Tellez, Khay Guan Yeoh, Wai Keong Wong, Yi-Jun Zhu, P Andrew Futreal, Brendan Pang, Yijun Ruan, Axel M Hillmer, Denis Bertrand, Niranjan Nagarajan, Steve Rozen, Bin Tean Teh, Patrick Tan, Rha, Sun Young

مصطلحات موضوعية: Adenocarcinoma/genetics, Case-Control Studies, Cell Adhesion/genetics, Chromatin Assembly and Disassembly/genetics, DNA/genetics, Exome/genetics, Genes, Tumor Suppressor, Humans, Microsatellite Instability, Mutation/genetics, Polymerase Chain Reaction, Polymorphism, Single Nucleotide/genetics, Sequence Analysis, DNA, Stomach/metabolism, Stomach Neoplasms/genetics

Relation: NATURE GENETICS; J02294; OAK-2012-01461; https://ir.ymlib.yonsei.ac.kr/handle/22282913/91503; http://www.nature.com/ng/journal/v44/n5/full/ng.2246.html; T201202929; NATURE GENETICS, Vol.44(5) : 570-574, 2012

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/91503
http://www.nature.com/ng/journal/v44/n5/full/ng.2246.html

المؤلفون: Gaulton, Kyle J., Nammo, Takao, Pasquali, Lorenzo, Simon, Jeremy M., Giresi, Paul G., Fogarty, Marie P., Panhuis, Tami M., Mieczkowski, Piotr, Secchi, Antonio, Bosco, Domenico, Berney, Thierry, Montanya, Eduard, Mohlke, Karen L., Lieb, Jason D., Ferrer, Jorge

المصدر: ISSN: 1061-4036 ; Nature genetics, vol. 42, no. 3 (2010) p. 255-259.

مصطلحات موضوعية: info:eu-repo/classification/ddc/617, Binding Sites/drug effects, Cells, Cultured, Chromatin/genetics/isolation & purification/ metabolism, Chromatin Assembly and Disassembly/ genetics, Chromosome Mapping, Diabetes Mellitus, Type 2/genetics, Formaldehyde/pharmacology, Genetic Predisposition to Disease, Hela Cells, Humans, Islets of Langerhans/ metabolism, K562 Cells, Models, Biological, Oligonucleotide Array Sequence Analysis, Regulatory Sequences, Nucleic Acid/drug effects/ genetics, Sequence Analysis, DNA, TCF Transcription Factors/genetics, Transcription Factor 7-Like 2 Protein

Relation: info:eu-repo/semantics/altIdentifier/pmid/20118932; https://archive-ouverte.unige.ch/unige:20626; unige:20626

الاتاحة: https://archive-ouverte.unige.ch/unige:20626

المؤلفون: Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Schrier Vergano, Samantha A., Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Baris Feldman, Hagit, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., Lachlan, Katherine

المساهمون: Genetica, Genetica Klinische Genetica, Child Health

مصطلحات موضوعية: 12p13.31, ATPase, chromatin remodeling, intellectual disability, missense, 12p13, Humans, Child, Preschool, Infant, Male, Developmental Disabilities/genetics, Adult, Female, Newborn, Heart Defects, Congenital/genetics, Abnormalities, Multiple/genetics, Mutation, Missense/genetics, Genetic Association Studies, Hearing Loss/genetics, Genotype, Transcription Factors/genetics, Chromatin Assembly and Disassembly/genetics, Syndrome, Intellectual Disability/genetics, Phenotype

Time: 31

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/439804

الاتاحة: https://dspace.library.uu.nl/handle/1874/439804

المؤلفون: Tchasovnikarova, Iva A, Timms, Richard T, Douse, Christopher H, Roberts, Rhys C, Dougan, Gordon, Kingston, Robert E, Modis, Yorgo, Lehner, Paul J

المصدر: Nature Genetics. 49(7):1035-1044

مصطلحات موضوعية: Adenosine Triphosphatases/metabolism, CRISPR-Cas Systems, Charcot-Marie-Tooth Disease/genetics, Chromatin Assembly and Disassembly/genetics, Epigenetic Repression/genetics, Gene Silencing, HeLa Cells, Heterochromatin/genetics, Histone Code, Histone-Lysine N-Methyltransferase, Histones/metabolism, Humans, Lysine/chemistry, Methylation, Multiprotein Complexes, Mutation, Missense, Neurons/metabolism, Protein Domains, Protein Interaction Mapping, Protein Methyltransferases/metabolism, Protein Processing, Post-Translational, Transcription Factors/genetics, Transgenes

URL الوصول: https://lup.lub.lu.se/record/f87a4238-f624-4637-8167-4423ed314d18
http://dx.doi.org/10.1038/ng.3878

المؤلفون: Scicchitano, Stefania, Giordano, Marco, De Smaele, Enrico, Mesuraca, Maria, Morrone, Giovanni, Bond, Heather M, Lucchino, Valeria, Montalcini, Ylenia, Chiarella, Emanuela, Aloisio, Annamaria, Codispoti, Bruna, Zoppoli, Pietro, Melocchi, Valentina, Bianchi, Fabrizio

المصدر: Cell death & disease 10(10), 715 (2019). doi:10.1038/s41419-019-1946-x

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Animals, Cell Line, Cerebellar Neoplasms: genetics, Cerebellar Neoplasms: metabolism, Chromatin Assembly and Disassembly: genetics, Chromatin Immunoprecipitation, DNA-Binding Proteins: genetics, DNA-Binding Proteins: metabolism, Databases, Genetic, Gene Expression Profiling, Gene Expression Regulation: genetics, Hedgehog Proteins: agonists, Hedgehog Proteins: genetics, Hedgehog Proteins: metabolism, Histone Deacetylases: genetics, Histone Deacetylases: metabolism, Humans, Medulloblastoma: genetics, Medulloblastoma: metabolism, Mice, Multigene Family, Nuclear Proteins: antagonists & inhibitors, Nuclear Proteins: genetics, Nuclear Proteins: metabolism, Protein Binding, Signal Transduction: genetics, Up-Regulation, Zinc Finger Protein GLI1: antagonists & inhibitors

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/2041-4889; info:eu-repo/semantics/altIdentifier/pmid/pmid:31558698; https://pub.dzne.de/record/141567; https://pub.dzne.de/search?p=id:%22DZNE-2020-07891%22

الاتاحة: https://pub.dzne.de/record/141567
https://pub.dzne.de/search?p=id:%22DZNE-2020-07891%22

المؤلفون: Stanton, Benjamin Z, Hodges, Courtney, Calarco, Joseph P, Braun, Simon, Ku, Wai Lim, Kadoch, Cigall, Zhao, Keji, Crabtree, Gerald R

المصدر: ISSN: 1061-4036 ; Nature Genetics, vol. 49, no. 2 (2017) p. 282-288.

مصطلحات موضوعية: Adenosine Triphosphatases/genetics, Adenosine Triphosphate/genetics, Animals, Cell Cycle Proteins/genetics, Chromatin/genetics, Chromatin Assembly and Disassembly/genetics, DNA Helicases/genetics, DNA-Binding Proteins/genetics, Mice, Neurodevelopmental Disorders/genetics, Nuclear Proteins/genetics, Point Mutation/genetics, Polycomb-Group Proteins/genetics, Transcription Factors/genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/27941795; https://archive-ouverte.unige.ch/unige:154532; unige:154532

الاتاحة: https://archive-ouverte.unige.ch/unige:154532

المؤلفون: Sadaie, M., Salama, R., Carroll, T., Tomimatsu, K., Chandra, T., Young, A. R., Narita, M., Perez-Mancera, P. A., Bennett, D. C., Chong, H., Kimura, Hiroshi

المصدر: Genes & Development. 27:1800-1808

مصطلحات موضوعية: Senescence, senescence, Heterochromatin, Histones/metabolism, Cell Line, Histones, Cell Aging/*genetics, Chromatin Assembly and Disassembly/*genetics, Heterochromatin/chemistry/*metabolism, Genetics, Lamin B1, Cells, Cultured, Cellular Senescence, Cell Nucleus, Regulation of gene expression, epigenetics, Lamin Type B, biology, Lamin Type B/genetics/*metabolism, Chromatin Assembly and Disassembly, Protein Structure, Tertiary, Chromatin, Cell biology, Histone, Gene Expression Regulation, Cell Nucleus/metabolism, embryonic structures, biology.protein, Nuclear lamina, Cell aging, Lamin, Protein Binding, Research Paper, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50ee90b95e47b23eb7cc21263a158191
https://doi.org/10.1101/gad.217281.113

المؤلفون: Courtney Hodges, Gerald R. Crabtree, Cigall Kadoch, Wai Lim Ku, Keji Zhao, Simon M. G. Braun, Benjamin Z. Stanton, Joseph P Calarco

المصدر: Nature Genetics, Vol. 49, No 2 (2017) pp. 282-288

مصطلحات موضوعية: 0301 basic medicine, ATPase, Transcription Factors/genetics, Polycomb-Group Proteins, Cell Cycle Proteins, macromolecular substances, Neurodevelopmental Disorders/genetics, DNA-binding protein, Article, 03 medical and health sciences, Mice, Adenosine Triphosphate, Polycomb-Group Proteins/genetics, Genetics, Polycomb-group proteins, Point Mutation, Animals, Point Mutation/genetics, Transcription factor, Adenosine Triphosphatases, Cell Cycle Proteins/genetics, biology, Chromatin/genetics, Point mutation, Adenosine Triphosphatases/genetics, Chromatin Assembly and Disassembly/genetics, DNA Helicases/genetics, DNA Helicases, Nuclear Proteins, Chromatin Assembly and Disassembly, Chromatin, Cell biology, DNA-Binding Proteins, Nuclear Proteins/genetics, 030104 developmental biology, Adenosine Triphosphate/genetics, Neurodevelopmental Disorders, biology.protein, SMARCA4, PRC1, DNA-Binding Proteins/genetics, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::609d70c35aba2d22b26b21d944f0968d
https://archive-ouverte.unige.ch/unige:154532

المؤلفون: Orsetta Zuffardi, Rieke Kempfer, Martin Vingron, Wing Lee Chan, Wibke Schwarzer, Stefan Mundlos, Katerina Kraft, Verena Heinrich, Francesco Brancati, Daniel M. Ibrahim, Paola Cambiaso, Gunnar Houge, Robert Schöpflin, Bernd Timmermann, Martin Franke, Ingo Kurth, Lindsay Lambie, Lars Wittler, Ana Pombo, Guillaume Andrey, François Spitz, Malte Spielmann, Ivana Jerković

المصدر: Nature
Nature, Vol. 538, No 7624 (2016) pp. 265-269

مصطلحات موضوعية: 0301 basic medicine, Foot Deformities, Male, Foot Deformities, Congenital, DNA Copy Number Variations, Gene Expression, Genomics, Biology, DNA/genetics, DNA Copy Number Variations/genetics, Genome, Gene Duplication/genetics, Chromosome conformation capture, Fingers, 03 medical and health sciences, Congenital, Mice, Gene Duplication, Gene duplication, Animals, Disease, Copy-number variation, Gene, ChIA-PET, Genetics, Congenital/genetics, Multidisciplinary, Medicine (all), Chromatin Assembly and Disassembly/genetics, Facies, SOX9 Transcription Factor, DNA, Fibroblasts, Hand Deformities, Chromatin Assembly and Disassembly, Chromatin, SOX9 Transcription Factor/genetics, Fingers/abnormalities, 030104 developmental biology, Phenotype, Disease/genetics, Evolutionary biology, Female, Hand Deformities, Congenital

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05e769687a095bae3a8c303c10eaabdb
https://hdl.handle.net/11858/00-001M-0000-002C-010A-311858/00-001M-0000-002C-010C-0

المؤلفون: Gabriela Sánchez-Andrade, Susan E. Holder, Jeremy F. McRae, Stephen J. Sawiak, Song-Choon Lee, Pelagia Deriziotis, Shelagh Joss, Tjitske Kleefstra, Julien Thevenon, Jenny Morton, Simon E. Fisher, Cristina Dias, Mathew E. Hurles, Sara Busquets Estruch, Kelly Mellul, Claire L. S. Turner, Darren W. Logan, Sarah A. Graham, Rui Santos, Ximena Ibarra-Soria, Laurence Faivre, Jane A. Hurst, Pentao Liu

المساهمون: DDD Study, Biologie moléculaire et cellulaire de la différenciation, Université Joseph Fourier - Grenoble 1 (UJF)-Institut Albert Bonniot-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), 849 Department of Human Genetics, Radboud University Medical Center [Nijmegen], Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, The Wellcome Trust Sanger Institute [Cambridge], Max Planck Society University of Cambridge Wellcome Trust EMBO Health Innovation Challenge Fund HICF-1009-003 Department of Health Wellcome Trust Sanger Institute National Institute for Health Research through the Comprehensive Clinical Research Network Regional Council of Burgundy Dijon University Hospital

المصدر: The American Journal of Human Genetics
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (2), pp.253-274. ⟨10.1016/j.ajhg.2016.05.030⟩
American Journal of Human Genetics, 99, 2, pp. 253-274
American Journal of Human Genetics, 99, 253-274
Dias, C, Estruch, S B, Graham, S A, McRae, J, Sawiak, S J, Hurst, J A, Joss, S K, Holder, S E, Morton, J E V, Turner, C, Thevenon, J, Mellul, K, Sánchez-Andrade, G, Ibarra-Soria, X, Deriziotis, P, Santos, R F, Lee, S-C, Faivre, L, Kleefstra, T, Liu, P, Hurles, M E & Fisher, S E & Logan, D W 2016, ' BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription ', American Journal of Human Genetics, vol. 99, no. 2, pp. 253-274 . https://doi.org/10.1016/j.ajhg.2016.05.030

مصطلحات موضوعية: 0301 basic medicine, Male, Haploinsufficiency/genetics, Microcephaly, Transcription, Genetic, Codon, Nonsense/genetics, Haploinsufficiency, Neurodevelopmental Disorders/genetics, Hippocampus, projection neurons, neural development, Microcephaly/genetics, Mice, 0302 clinical medicine, Intellectual disability, epileptic encephalopathies, Missense mutation, Genetics(clinical), genes, Frameshift Mutation, Genetics (clinical), Genetics, Cerebral Cortex, axon guidance, 2p15p16.1 microdeletion syndrome, Nuclear Proteins, cell-differentiation, Syndrome, Transcription Factors/chemistry, Phenotype, Mutation, Missense/genetics, Codon, Nonsense, Neuroinformatics, lymphoid development, autism spectrum disorders, Hippocampus/metabolism, Mutation, Missense, Nuclear Proteins/chemistry, Biology, Article, Frameshift mutation, 03 medical and health sciences, Intellectual Disability, medicine, Animals, Humans, Social Behavior, Transcription factor, Frameshift Mutation/genetics, Loss function, de-novo mutations, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetic heterogeneity, Chromatin Assembly and Disassembly/genetics, Carrier Proteins/chemistry, medicine.disease, Chromatin Assembly and Disassembly, Intellectual Disability/genetics, Repressor Proteins, 030104 developmental biology, Cerebral Cortex/metabolism, Neurodevelopmental Disorders, Carrier Proteins, Cognition Disorders, Transcriptome, Cognition Disorders/genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e2b0c5321656ea6915dd869874775e1
https://pubmed.ncbi.nlm.nih.gov/27453576

المؤلفون: Franke, Martin, Ibrahim, Daniel M, Andrey, Guillaume, Schwarzer, Wibke, Heinrich, Verena, Schöpflin, Robert, Kraft, Katerina, Kempfer, Rieke, Jerković, Ivana, Chan, Wing-Lee, Spielmann, Malte, Timmermann, Bernd, Wittler, Lars, Kurth, Ingo, Cambiaso, Paola, Zuffardi, Orsetta, Houge, Gunnar, Lambie, Lindsay, Brancati, Francesco, Pombo, Ana, Vingron, Martin, Spitz, Francois, Mundlos, Stefan

المصدر: ISSN: 0028-0836 ; Nature, vol. 538, no. 7624 (2016) p. 265-269.

مصطلحات موضوعية: Animals, Chromatin Assembly and Disassembly/genetics, DNA/genetics, DNA Copy Number Variations/genetics, Disease/genetics, Facies, Female, Fibroblasts, Fingers/abnormalities, Foot Deformities, Congenital/genetics, Gene Duplication/genetics, Gene Expression, Genomics, Hand Deformities, Male, Mice, Phenotype, SOX9 Transcription Factor/genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/27706140; https://archive-ouverte.unige.ch/unige:116779; unige:116779

الاتاحة: https://archive-ouverte.unige.ch/unige:116779