Maria Carmo-Fonseca Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina Universidade de Lisboa Biography Publications Institution JoVE Articles Maria Carmo-Fonseca has not added a biography. If you are Maria Carmo-Fonseca and would like to personalize this page please email our Author Liaison for assistance. Publications A Year in the Life of the EU-CardioRNA COST Action: CA17129 Catalysing Transcriptomics Research in Cardiovascular Disease Non-coding RNA. 05, 2020 | Pubmed ID: 32443579 Cryptic Splice-altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy Circulation. Genomic and Precision Medicine. May, 2020 | Pubmed ID: 32396390 Maturation of Human Pluripotent Stem Cell-Derived Cerebellar Neurons in the Absence of Co-culture Frontiers in Bioengineering and Biotechnology. 2020 | Pubmed ID: 32117945 RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy International Journal of Molecular Sciences. Feb, 2020 | Pubmed ID: 32079122 Detection of Rare and Novel EGFR Mutations in NSCLC Patients: Implications for Treatment-decision Lung Cancer (Amsterdam, Netherlands). Jan, 2020 | Pubmed ID: 31715539 Targeting MRNA Processing As an Anticancer Strategy Nature Reviews. Drug Discovery. 02, 2020 | Pubmed ID: 31554928 Analysis of Mammalian Native Elongating Transcript Sequencing (mNET-seq) High-throughput Data Methods (San Diego, Calif.). Sep, 2019 | Pubmed ID: 31493517 Negative MR Chronic Myeloid Leukaemia and Its Possible Implications for Treatment-free Remission British Journal of Haematology. 09, 2019 | Pubmed ID: 31218669 Design Principles for Pluripotent Stem Cell-Derived Organoid Engineering Stem Cells International. 2019 | Pubmed ID: 31149014 RNA Polymerase II Phosphorylated on CTD Serine 5 Interacts with the Spliceosome During Co-transcriptional Splicing Molecular Cell. 10, 2018 | Pubmed ID: 30340024 Silencing of the LncRNA Zeb2-NAT Facilitates Reprogramming of Aged Fibroblasts and Safeguards Stem Cell Pluripotency Nature Communications. 01, 2018 | Pubmed ID: 29311544 Whole Gene Sequencing Identifies Deep-intronic Variants with Potential Functional Impact in Patients with Hypertrophic Cardiomyopathy PloS One. 2017 | Pubmed ID: 28797094 Short (16-mer) Locked Nucleic Acid Splice-switching Oligonucleotides Restore Dystrophin Production in Duchenne Muscular Dystrophy Myotubes PloS One. 2017 | Pubmed ID: 28742140 Deep Intronic Mutations and Human Disease Human Genetics. 09, 2017 | Pubmed ID: 28497172 Quantitative Image Analysis of Single-Molecule MRNA Dynamics in Living Cells Methods in Molecular Biology (Clifton, N.J.). 2017 | Pubmed ID: 28324612 Pharmacological Inhibition of the Spliceosome Subunit SF3b Triggers Exon Junction Complex-independent Nonsense-mediated Decay Journal of Cell Science. 05, 2017 | Pubmed ID: 28302904 Transcription Dynamics Prevent RNA-Mediated Genomic Instability Through SRPK2-Dependent DDX23 Phosphorylation Cell Reports. 01, 2017 | Pubmed ID: 28076779 Distinctive Patterns of Transcription and RNA Processing for Human LincRNAs Molecular Cell. Jan, 2017 | Pubmed ID: 28017589 A Rare Missense Variant in RET Exon 8 in a Portuguese Family with Atypical Multiple Endocrine Neoplasia Type 2A Hormones (Athens, Greece). Jul, 2016 | Pubmed ID: 27838608 Co-transcriptional Splicing and the CTD Code Critical Reviews in Biochemistry and Molecular Biology. Sep, 2016 | Pubmed ID: 27622638 STaQTool: Spot Tracking and Quantification Tool for Monitoring Splicing of Single Pre-mRNA Molecules in Living Cells Methods (San Diego, Calif.). Apr, 2016 | Pubmed ID: 26855377 Mammalian NET-seq Analysis Defines Nascent RNA Profiles and Associated RNA Processing Genome-wide Nature Protocols. Mar, 2016 | Pubmed ID: 26844429 Single-Molecule Live-Cell Visualization of Pre-mRNA Splicing Methods in Molecular Biology (Clifton, N.J.). 2016 | Pubmed ID: 26463395 Assembly of the Nucleolus: in Need of Revision The EMBO Journal. Nov, 2015 | Pubmed ID: 26471727 Single-Molecule Imaging of RNA Splicing in Live Cells Methods in Enzymology. 2015 | Pubmed ID: 26068754 Mammalian NET-Seq Reveals Genome-wide Nascent Transcription Coupled to RNA Processing Cell. Apr, 2015 | Pubmed ID: 25910207 RNA Imaging: Seeing is Believing RNA (New York, N.Y.). Apr, 2015 | Pubmed ID: 25780147 Transcription-coupled RNA Surveillance in Human Genetic Diseases Caused by Splice Site Mutations Human Molecular Genetics. May, 2015 | Pubmed ID: 25652404 Trypanosoma Brucei Histone H1 Inhibits RNA Polymerase I Transcription and is Important for Parasite Fitness in Vivo Molecular Microbiology. Aug, 2014 | Pubmed ID: 24946224 Reciprocal Regulatory Links Between Cotranscriptional Splicing and Chromatin Seminars in Cell & Developmental Biology. Aug, 2014 | Pubmed ID: 24657193 Imaging Dynamic Interactions Between Spliceosomal Proteins and Pre-mRNA in Living Cells Methods (San Diego, Calif.). Feb, 2014 | Pubmed ID: 23969316 Live-cell Visualization of Pre-mRNA Splicing with Single-molecule Sensitivity Cell Reports. Sep, 2013 | Pubmed ID: 24035393 Histone Methyltransferase SETD2 Coordinates FACT Recruitment with Nucleosome Dynamics During Transcription Nucleic Acids Research. Mar, 2013 | Pubmed ID: 23325844 Alternative Splicing and Cancer Journal of Nucleic Acids. 2012 | Pubmed ID: 22685632 Dynamic Transitions in RNA Polymerase II Density Profiles During Transcription Termination Genome Research. Aug, 2012 | Pubmed ID: 22684278 Design Principles of Interconnections Between Chromatin and Pre-mRNA Splicing Trends in Biochemical Sciences. Jun, 2012 | Pubmed ID: 22398209 Spliceosome Assembly is Coupled to RNA Polymerase II Dynamics at the 3' End of Human Genes Nature Structural & Molecular Biology. Sep, 2011 | Pubmed ID: 21892168 Splicing Enhances Recruitment of Methyltransferase HYPB/Setd2 and Methylation of Histone H3 Lys36 Nature Structural & Molecular Biology. Jul, 2011 | Pubmed ID: 21792193 RNA Seeds Nuclear Bodies Nature Cell Biology. Feb, 2011 | Pubmed ID: 21283118 Cotranscriptional RNA Checkpoints Epigenomics. Jun, 2010 | Pubmed ID: 22121903 A Link Between Nuclear RNA Surveillance, the Human Exosome and RNA Polymerase II Transcriptional Termination Nucleic Acids Research. Dec, 2010 | Pubmed ID: 20699273 Follow That Messenger: Live-imaging a Journey out of the Nucleus Developmental Cell. Jun, 2010 | Pubmed ID: 20627070 Orphan Nuclear Bodies Cold Spring Harbor Perspectives in Biology. Sep, 2010 | Pubmed ID: 20610547 Unconstrained Mining of Transcript Data Reveals Increased Alternative Splicing Complexity in the Human Transcriptome Nucleic Acids Research. Aug, 2010 | Pubmed ID: 20385588 Hsp70 Chaperones and Type I PRMTs Are Sequestered at Intranuclear Inclusions Caused by Polyalanine Expansions in PABPN1 PloS One. Jul, 2009 | Pubmed ID: 19641605 The Spliceosome: a Self-organized Macromolecular Machine in the Nucleus? Trends in Cell Biology. Aug, 2009 | Pubmed ID: 19616950 Frontiers in Fluorescence Microscopy The International Journal of Developmental Biology. 2009 | Pubmed ID: 19247949 The Emerging Role of Splicing Factors in Cancer EMBO Reports. Nov, 2008 | Pubmed ID: 18846105 Tissue-specific Splicing Factor Gene Expression Signatures Nucleic Acids Research. Sep, 2008 | Pubmed ID: 18653532 The CTD Role in Cotranscriptional RNA Processing and Surveillance FEBS Letters. Jun, 2008 | Pubmed ID: 18435923 Splicing Factors SF1 and U2AF Associate in Extraspliceosomal Complexes Molecular and Cellular Biology. May, 2008 | Pubmed ID: 18285458 Inactivation of Cleavage Factor I Components Rna14p and Rna15p Induces Sequestration of Small Nucleolar Ribonucleoproteins at Discrete Sites in the Nucleus Molecular Biology of the Cell. Apr, 2008 | Pubmed ID: 18234838 Nuclear Organization and Splicing Control Advances in Experimental Medicine and Biology. 2007 | Pubmed ID: 18380337 How Genes Find Their Way Inside the Cell Nucleus The Journal of Cell Biology. Dec, 2007 | Pubmed ID: 18070916 A Stochastic View of Spliceosome Assembly and Recycling in the Nucleus PLoS Computational Biology. Oct, 2007 | Pubmed ID: 17967051 Splicing- and Cleavage-independent Requirement of RNA Polymerase II CTD for MRNA Release from the Transcription Site The Journal of Cell Biology. Oct, 2007 | Pubmed ID: 17938247 Depletion of the Yeast Nuclear Exosome Subunit Rrp6 Results in Accumulation of Polyadenylated RNAs in a Discrete Domain Within the Nucleolus Molecular and Cellular Biology. Jun, 2007 | Pubmed ID: 17403903 A Reaction-diffusion Model to Study RNA Motion by Quantitative Fluorescence Recovery After Photobleaching Biophysical Journal. Apr, 2007 | Pubmed ID: 17259280 Genome-wide Identification of Functionally Distinct Subsets of Cellular MRNAs Associated with Two Nucleocytoplasmic-shuttling Mammalian Splicing Factors Genome Biology. 2006 | Pubmed ID: 17137510 Diversity of Human U2AF Splicing Factors The FEBS Journal. Nov, 2006 | Pubmed ID: 17042780 In Vivo Requirement of the Small Subunit of U2AF for Recognition of a Weak 3' Splice Site Molecular and Cellular Biology. Nov, 2006 | Pubmed ID: 16940179 RNA Interference Knockdown of HU2AF35 Impairs Cell Cycle Progression and Modulates Alternative Splicing of Cdc25 Transcripts Molecular Biology of the Cell. Oct, 2006 | Pubmed ID: 16855028 Abundance of the Largest Subunit of RNA Polymerase II in the Nucleus is Regulated by Nucleo-cytoplasmic Shuttling Experimental Cell Research. Aug, 2006 | Pubmed ID: 16765347 Systematic Genome-wide Annotation of Spliceosomal Proteins Reveals Differential Gene Family Expansion Genome Research. Jan, 2006 | Pubmed ID: 16344558 SUMO-1 Modification Alters ADAR1 Editing Activity Molecular Biology of the Cell. Nov, 2005 | Pubmed ID: 16120648 The Intranuclear Mobility of Messenger RNA Binding Proteins is ATP Dependent and Temperature Sensitive The Journal of Cell Biology. Dec, 2002 | Pubmed ID: 12473688 Chromosomal G-dark Bands Determine the Spatial Organization of Centromeric Heterochromatin in the Nucleus Molecular Biology of the Cell. Nov, 2001 | Pubmed ID: 11694589 İnsan Pluripotent Kök Hücrelerinden Olgun Serebellar Organoidlerin Ölçeklenebilir Üretimi ve İmmünboyama ile Karakterizasyonu Teresa P. Silva1,2, Tiago G. Fernandes1, Diogo E. S. Nogueira1, Carlos A. V. Rodrigues1, Evguenia P. Bekman1,2,3, Yas Hashimura4, Sunghoon Jung4, Brian Lee4, Maria Carmo-Fonseca2, Joaquim M. S. Cabral1 1iBB - Institute for Bioengineering and Biosciences and Department of Bioengineering, Instituto Superior Técnico, Universidade de Lisboa, 2Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 3The Discoveries Centre for Regenerative and Precision Medicine, Lisbon Campus, Universidade de Lisboa, 4PBS Biotech, Inc, Camarillo, CA, USA JoVE 61143 Bio-ingénierie
İnsan Pluripotent Kök Hücrelerinden Olgun Serebellar Organoidlerin Ölçeklenebilir Üretimi ve İmmünboyama ile Karakterizasyonu Teresa P. Silva1,2, Tiago G. Fernandes1, Diogo E. S. Nogueira1, Carlos A. V. Rodrigues1, Evguenia P. Bekman1,2,3, Yas Hashimura4, Sunghoon Jung4, Brian Lee4, Maria Carmo-Fonseca2, Joaquim M. S. Cabral1 1iBB - Institute for Bioengineering and Biosciences and Department of Bioengineering, Instituto Superior Técnico, Universidade de Lisboa, 2Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 3The Discoveries Centre for Regenerative and Precision Medicine, Lisbon Campus, Universidade de Lisboa, 4PBS Biotech, Inc, Camarillo, CA, USA JoVE 61143 Bio-ingénierie