Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease.
暂无分享,去创建一个
Joshua M. Stuart | J. Seidman | B. Bruneau | W. Pu | H. Heyn | P. Goyal | C. Seidman | I. S. Kathiriya | Reuben Thomas | Kavitha S. Rao | Swetansu K. Hota | G. Iacono | B. Garay | Kai Li | Brynn N. Akerberg | Fei Gu | Lauren K. Wasson | W. Devine | Henry Z. Gong | Laure D. Bernard | Tatyana Sukonnik | A. Blair | M. H. Lai | Gunes A. Akgun
[1] Timothy J. Nelson,et al. Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome. , 2020, Cell stem cell.
[2] A. Trafford,et al. The Control of Diastolic Calcium in the Heart , 2020, Circulation research.
[3] Michaela Asp. A spatiotemporal organ-wide gene expression and cell atlas of the developing human heart. Asp and Giacomello et al. , 2019 .
[4] Christopher R. Weber,et al. Atrial fibrillation risk loci interact to modulate Ca2+-dependent atrial rhythm homeostasis. , 2019, The Journal of clinical investigation.
[5] Guocheng Yuan,et al. A reference map of murine cardiac transcription factor chromatin occupancy identifies dynamic and conserved enhancers , 2019, Nature Communications.
[6] G. Hon,et al. Rational Reprogramming of Cellular States by Combinatorial Perturbation. , 2019, Cell reports.
[7] Paul J. Hoffman,et al. Comprehensive Integration of Single-Cell Data , 2018, Cell.
[8] D. Srivastava,et al. Oligogenic inheritance of a human heart disease involving a genetic modifier , 2019, Science.
[9] D. Joy,et al. Phenotypic Variation Between Stromal Cells Differentially Impacts Engineered Cardiac Tissue Function. , 2019, Tissue engineering. Part A.
[10] Francisco J. Alvarado,et al. A calcium transport mechanism for atrial fibrillation in Tbx5-mutant mice , 2019, eLife.
[11] R. Satija,et al. Normalization and variance stabilization of single-cell RNA-seq data using regularized negative binomial regression , 2019, Genome Biology.
[12] Ryan L. Collins,et al. The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.
[13] Ryan L. Collins,et al. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes , 2019, bioRxiv.
[14] Lai Guan Ng,et al. Dimensionality reduction for visualizing single-cell data using UMAP , 2018, Nature Biotechnology.
[15] Robert H. Anderson,et al. Remodeling of the Embryonic Interventricular Communication in Regard to the Description and Classification of Ventricular Septal Defects , 2018, Anatomical record.
[16] G. Hon,et al. Rational reprogramming of cellular states by combinatorial perturbation , 2018, bioRxiv.
[17] Kashish Chetal,et al. Defining human cardiac transcription factor hierarchies using integrated single-cell heterogeneity analysis , 2018, Nature Communications.
[18] H. Heyn,et al. Single-cell transcriptomics unveils gene regulatory network plasticity , 2018, Genome Biology.
[19] Zev J. Gartner,et al. DoubletFinder: Doublet detection in single-cell RNA sequencing data using artificial nearest neighbors , 2018, bioRxiv.
[20] A. Regev,et al. Single-cell reconstruction of developmental trajectories during zebrafish embryogenesis , 2018, Science.
[21] Mauro W. Costa,et al. NKX2-5 regulates human cardiomyogenesis via a HEY2 dependent transcriptional network , 2018, Nature Communications.
[22] Paul Hoffman,et al. Integrating single-cell transcriptomic data across different conditions, technologies, and species , 2018, Nature Biotechnology.
[23] Yufeng Shen,et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands , 2017, Nature Genetics.
[24] Giovanni Iacono,et al. bigSCale: an analytical framework for big-scale single-cell data , 2017, bioRxiv.
[25] Robyn M. Kaake,et al. A BAG3 chaperone complex maintains cardiomyocyte function during proteotoxic stress. , 2017, JCI insight.
[26] L. Mirny,et al. Targeted Degradation of CTCF Decouples Local Insulation of Chromosome Domains from Genomic Compartmentalization , 2017, Cell.
[27] A. Hendel,et al. A Comprehensive TALEN-Based Knockout Library for Generating Human-Induced Pluripotent Stem Cell–Based Models for Cardiovascular Diseases , 2017, Circulation research.
[28] M. Brueckner,et al. Genetics and Genomics of Congenital Heart Disease. , 2017, Circulation research.
[29] M. Burch,et al. Assessment of Diastolic Function in Congenital Heart Disease , 2017, Front. Cardiovasc. Med..
[30] Beth L. Pruitt,et al. Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis , 2016, Cell.
[31] Bin Zhou,et al. Transcriptomic Profiling Maps Anatomically Patterned Subpopulations among Single Embryonic Cardiac Cells. , 2016, Developmental cell.
[32] J. Seidman,et al. Single-Cell Resolution of Temporal Gene Expression during Heart Development. , 2016, Developmental cell.
[33] Brian J. Stevenson,et al. TECRL, a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT , 2016, EMBO molecular medicine.
[34] Christopher R. Weber,et al. Pitx2 modulates a Tbx5-dependent gene regulatory network to maintain atrial rhythm , 2016, Science Translational Medicine.
[35] Tomas W. Fitzgerald,et al. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing , 2016, Nature Genetics.
[36] Andrew D. Rouillard,et al. Enrichr: a comprehensive gene set enrichment analysis web server 2016 update , 2016, Nucleic Acids Res..
[37] Nevan J Krogan,et al. CRISPR Interference Efficiently Induces Specific and Reversible Gene Silencing in Human iPSCs. , 2016, Cell stem cell.
[38] M. Hurles,et al. De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects , 2016, PLoS genetics.
[39] Linzhao Cheng,et al. Genome Editing in Human Pluripotent Stem Cells. , 2016, Cold Spring Harbor protocols.
[40] Md. Abul Hassan Samee,et al. Complex Interdependence Regulates Heterotypic Transcription Factor Distribution and Coordinates Cardiogenesis , 2016, Cell.
[41] F. Conlon,et al. The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac Septation. , 2016, Developmental cell.
[42] Stephan J Sanders,et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies , 2015, Science.
[43] G. Church,et al. Crispr-mediated Gene Targeting of Human Induced Pluripotent Stem Cells. , 2015, Current protocols in stem cell biology.
[44] 田原 康玄,et al. 生活習慣病とgenome-wide association study , 2015 .
[45] K. Pollard,et al. Human Disease Modeling Reveals Integrated Transcriptional and Epigenetic Mechanisms of NOTCH1 Haploinsufficiency , 2015, Cell.
[46] A. Regev,et al. Spatial reconstruction of single-cell gene expression , 2015, Nature Biotechnology.
[47] Joshua D. Wythe,et al. Early patterning and specification of cardiac progenitors in gastrulating mesoderm , 2014, eLife.
[48] W. Pu,et al. Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders. , 2014, Cold Spring Harbor perspectives in medicine.
[49] Axel Visel,et al. Dynamic GATA4 enhancers shape the chromatin landscape central to heart development and disease , 2014, Nature Communications.
[50] J. Belmont,et al. Genetic basis of congenital cardiovascular malformations. , 2014, European journal of medical genetics.
[51] Robert H. Anderson,et al. The Development of Septation in the Four‐Chambered Heart , 2014, Anatomical record.
[52] Kevin E. Healy,et al. Calcium Transients Closely Reflect Prolonged Action Potentials in iPSC Models of Inherited Cardiac Arrhythmia , 2014, Stem cell reports.
[53] B. Conklin,et al. Isolation of single-base genome-edited human iPS cells without antibiotic selection , 2014, Nature Methods.
[54] Hongbing Shen,et al. A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations , 2013, Nature Genetics.
[55] Murim Choi,et al. De novo mutations in histone modifying genes in congenital heart disease , 2013, Nature.
[56] S. Heath,et al. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 , 2013, Nature Genetics.
[57] Edward Y. Chen,et al. Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool , 2013, BMC Bioinformatics.
[58] Le Cong,et al. Multiplex Genome Engineering Using CRISPR/Cas Systems , 2013, Science.
[59] S. Heath,et al. Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot , 2013, Human molecular genetics.
[60] M. Marazita,et al. Genome-wide Association Studies , 2012, Journal of dental research.
[61] K. Lunetta,et al. Meta-analysis identifies six new susceptibility loci for atrial fibrillation , 2012, Nature Genetics.
[62] Xiaoxia Qi,et al. Heart repair by reprogramming non-myocytes with cardiac transcription factors , 2012, Nature.
[63] A. Moorman,et al. Tbx2 and Tbx3 induce atrioventricular myocardial development and endocardial cushion formation , 2011, Cellular and Molecular Life Sciences.
[64] Li Qian,et al. In vivo reprogramming of murine cardiac fibroblasts into induced cardiomyocytes , 2011, Nature.
[65] Gaël Varoquaux,et al. Scikit-learn: Machine Learning in Python , 2011, J. Mach. Learn. Res..
[66] Kathleen F. Kerr,et al. Genome-Wide Association Studies of the PR Interval in African Americans , 2011, PLoS genetics.
[67] V. Vedantham,et al. Direct Reprogramming of Fibroblasts into Functional Cardiomyocytes by Defined Factors , 2010, Cell.
[68] Cory Y. McLean,et al. GREAT improves functional interpretation of cis-regulatory regions , 2010, Nature Biotechnology.
[69] Christian Gieger,et al. Genome-wide association study of PR interval , 2010, Nature Genetics.
[70] Jehyuk Lee,et al. A Robust Approach to Identifying Tissue-Specific Gene Expression Regulatory Variants Using Personalized Human Induced Pluripotent Stem Cells , 2009, PLoS genetics.
[71] D. Srivastava,et al. Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development. , 2009, Developmental biology.
[72] E. A. Packham,et al. Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development , 2009, Molecular and Cellular Biology.
[73] C. Basson,et al. Atrial Fibrillation and Other Clinical Manifestations of Altered TBX5 Dosage in Typical Holt-Oram Syndrome. , 2008, Circulation research.
[74] B. Bruneau,et al. Tbx5-dependent pathway regulating diastolic function in congenital heart disease , 2008, Proceedings of the National Academy of Sciences.
[75] E. Creemers,et al. Myocardin is a direct transcriptional target of Mef2, Tead and Foxo proteins during cardiovascular development , 2006, Development.
[76] Kazuko Koshiba-Takeuchi,et al. Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis. , 2006, Developmental biology.
[77] F. Foster,et al. Abnormal cardiac inflow patterns during postnatal development in a mouse model of Holt-Oram syndrome. , 2005, American journal of physiology. Heart and circulatory physiology.
[78] J. Strouboulis,et al. A generic tool for biotinylation of tagged proteins in transgenic mice , 2005, Transgenic Research.
[79] John McAnally,et al. BOP, a regulator of right ventricular heart development, is a direct transcriptional target of MEF2C in the developing heart , 2005, Development.
[80] M. Quiñones. Assessment of diastolic function. , 2005, Progress in cardiovascular diseases.
[81] B. Bruneau,et al. TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed , 2004, Current opinion in cardiology.
[82] A. Moorman,et al. Cardiac chamber formation: development, genes, and evolution. , 2003, Physiological reviews.
[83] Jonathan C. Cohen,et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 , 2003, Nature.
[84] M. Bamshad,et al. Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. , 2003, American journal of human genetics.
[85] J. Hoffman,et al. The incidence of congenital heart disease. , 2002, Journal of the American College of Cardiology.
[86] Michael Levine,et al. Dorsal gradient networks in the Drosophila embryo. , 2002, Developmental biology.
[87] J. Schmitt,et al. A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease , 2001, Cell.
[88] Ryozo Nagai,et al. Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation , 2001, Nature Genetics.
[89] S. Izumo,et al. The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development. , 1999, Development.
[90] Sergey Brin,et al. The Anatomy of a Large-Scale Hypertextual Web Search Engine , 1998, Comput. Networks.
[91] C. Bucana,et al. Control of mouse cardiac morphogenesis and myogenesis by transcription factor MEF2C. , 1997, Science.
[92] M. Pierpont,et al. Variation in severity of cardiac disease in Holt-Oram syndrome. , 1996, American journal of medical genetics.
[93] J. Hoffman,et al. Incidence of congenital heart disease: II. Prenatal incidence , 1995, Pediatric Cardiology.
[94] Ruili Li,et al. Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5. , 1995, Genes & development.
[95] J. Hoffman,et al. Incidence of congenital heart disease: I. Postnatal incidence , 1995, Pediatric Cardiology.
[96] S. Solomon,et al. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome) , 1994, The New England journal of medicine.
[97] J. Wishart. Probable Error , 1932, The Mathematical Gazette.
[98] Yigang,et al. Genome Editing in Human Pluripotent Stem Cells: A Multidisciplinary Approach to Dissecting Cellular Mechanism of Cardiomyopathy , 2016 .
[99] Derek T. Peters,et al. Genome editing in human pluripotent stem cells , 2014 .
[100] B. Black,et al. Transcription factor pathways and congenital heart disease. , 2012, Current topics in developmental biology.
[101] Michael D. Abràmoff,et al. Image processing with ImageJ , 2004 .
[102] R. Kucherlapati,et al. Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome , 1997, Nature Genetics.
[103] J. Seidman,et al. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. , 1997, Nature genetics.
[104] David I. Wilson,et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family , 1997, Nature Genetics.
[105] Y. Benjamini,et al. Controlling the false discovery rate: a practical and powerful approach to multiple testing , 1995 .
[106] D. G. Chen,et al. Holt-Oram syndrome. , 1986, Chinese medical journal.
[107] S. Holm. A Simple Sequentially Rejective Multiple Test Procedure , 1979 .
[108] R. Fisher. 014: On the "Probable Error" of a Coefficient of Correlation Deduced from a Small Sample. , 1921 .
[109] Edinburgh Research Explorer Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders , 2022 .