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检索条件"机构=Unit on Cellular and Molecular Neurodevelopment"
3 条 记 录,以下是1-10 订阅
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Deletion of a single CTCF motif at the boundary of a chromatin domain with three FGF genes disrupts gene expression and embryonic development
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Developmental Cell 2025年
作者: Chakraborty, Shreeta Wenzlitschke, Nina Anderson, Matthew J. Eraso, Ariel Baudic, Manon Thompson, Joyce J. Evans, Alicia A. Shatford-Adams, Lilly M. Chari, Raj Awasthi, Parirokh Dale, Ryan K. Lewandoski, Mark Petros, Timothy J. Rocha, Pedro P. Unit on Genome Structure and Regulation National Institute of Child Health and Human Development National Institutes of Health Bethesda 20892 MD United States Genetics of Vertebrate Development Section Cancer and Developmental Biology Laboratory National Cancer Institute National Institutes of Health Frederick 21702 MD United States Bioinformatics and Scientific Programming Core National Institute of Child Health and Human Development National Institutes of Health Bethesda 20892 MD United States Laboratory Animal Sciences Program Frederick National Laboratory for Cancer Research Frederick 21702 MD United States Unit on Cellular and Molecular Neurodevelopment National Institute of Child Health and Human Development National Institutes of Health Bethesda 20892 MD United States National Cancer Institute NIH Bethesda 20892 MD United States
Chromatin domains delimited by CTCF can restrict the range of enhancer action. However, disruption of some domain boundaries results in mild gene dysregulation and phenotypes. We tested whether perturbing a domain wit... 详细信息
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GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations
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European Journal of Human Genetics 2025年 1-10页
作者: Merepa, Solomon S. Reis, Linda M. Damián, Alejandra Bardakjian, Tanya Schneider, Adele Trujillo-Tiebas, María Jose Ayuso, Carmen Galarza, Laura Cortázar Saez Villaverde, Raquel Ortiz-Cabrera, Nelmar Valentina Bax, Dorine A. Holt, Richard Ceroni, Fabiola Edery, Patrick Grelet, Maude Riccardi, Florence Maillard, Lauriane Costakos, Deborah Plaisancié, Julie Chassaing, Nicolas Corton, Marta Semina, Elena V. Ragge, Nicola K. Faculty of Health Science and Technology School of Biological and Medical Sciences Oxford Brookes University Headington Campus Gipsy Lane Oxford United Kingdom Department of Ophthalmology and Visual Sciences Medical College of Wisconsin Milwaukee WI United States Department of Genetics & Genomics Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD UAM) Madrid Spain U704 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Madrid Spain Einstein Medical Center Philadelphia Philadelphia PA United States Wills Eye Hospital Philadelphia PA United States Hospital Universitario Donostia San Sebastián Spain Department of Genetics Hospital Infantil Universitario Niño Jesús Madrid Spain Université Claude Bernard Lyon 1 INSERM CNRS Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292 Genetics of Neurodevelopment Team Bron France Department of Genetics Clinical Genetics Unit Centre de Référence Maladies Rares des Anomalies du Développement Hospices Civils de Lyon Université Claude Bernard Lyon 1 Bron France Centre Hospitalier Intercommunal de Toulon- La Seyne sur mer Service de Génétique Médicale Toulon France Service d’Opthalmologie Hôpital Purpan CHU Toulouse Toulouse France Laboratoire de Référence (LBMR) des anomalies malformatives de l’œil Institut Fédératif de Biologie (IFB) CHU Toulouse Toulouse France Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO Site Constitutif CHU Toulouse Toulouse France Molecular Cellular and Developmental Biology Unit (MCD) Centre de Biologie Intégrative (CBI) Université de Toulouse CNRS UPS Toulouse France Department of Pediatrics Medical College of Wisconsin Milwaukee WI United States West Midlands Regional Clinical Genetics Service and Birmingham Health Partners Birmingham Women’s and Children’s Foundation Trust Birmingham United Kingdom
Variants in gap junction protein alpha 8 (GJA8), the gene encoding connexin 50 (Cx50), are primarily associated with developmental cataract, although some are associated with severe structural eye anomalies, such as a...
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Simultaneous dual-contrast three-dimensional imaging in live cells via optical diffraction tomography and fluorescence
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Photonics Research 2019年 第9期7卷 1042-1050页
作者: CHEN LIU MICHAEL MALEK IVAN POON LANZHOU JIANG ARIF MSIDDIQUEE COLIN JRSHEPPARD ANN ROBERTS HARRY QUINEY DOUGUO ZHANG XIAOCONG YUAN JIAO LIN CHRISTIAN DEPEURSINGE PIERRE MARQUET SHAN SHAN KOU Nanophotonics Research Centre Shenzhen Key Laboratory of Micro-Scale Optical Information TechnologyShenzhen UniversityShenzhen518060China Department of Chemistry and Physics La Trobe Institute for Molecular Science(LIMS)La Trobe UniversityMelbourneVictoria3086Australia Department of Optics and Optical Engineering Anhui Key Laboratory of Optoelectronic Science and TechnologyUniversity of Science andTechnology of ChinaHefei230026China Department of Biochemistry and Genetics La Trobe Institute for Molecular Science(LIMS)La Trobe UniversityMelbourneVictoria3086Australia Australian Research Council(ARC) Centre of Excellence in Advanced Molecular ImagingAustralia Istituto Italiano di Tecnologia Genova16163Italy School of Physics University of MelbourneVictoria3010Australia School of Engineering RMIT UniversityMelbourneVictoria3001Australia Microvision and Microdiagnostic Group(SCI STI CHD) Ecole Polytechnique Federale de Lausanne(EPFL)1015LausanneSwitzerland Laboratory for Cellular Imaging and Energetics Biological and Environmental Sciences and Engineering DivisionKing Abdullah University ofScience and Technology(KAUST)Thuwal23955-6900Saudi Arabia Joint International Research Unit in Neurodevelopment and Child Psychiatry CHUVDepartement de PsychiatrieLausanneSwitzerlandUniversiteLavalQuebecCanada Institut universitaire en santementale de Quebec QuebecCanada Centre d’optique photonique et laserDepartment of Psychiatry and NeuroscienceUniversiteLaval2375rue de la TerrasseQuebecQC G1V0A6Canada
We report a dual-contrast method of simultaneously measuring and visualizing the volumetric structural information in live biological samples in three-dimensional(3D) space. By introducing a direct way of deriving the... 详细信息
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