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Daniel Bernstein, MD Associate Dean for Curriculum and Scholarship Stanford University School of Medicine Alfred Woodley Salter and Mabel G
RESEARCHER PROFILES Daniel Bernstein, MD Associate Dean for Curriculum and Scholarship Stanford University School of Medicine Alfred Woodley Salter and Mabel G. Salter Endowed Professor of Pediatrics (Cardiology) Stanford University Former Division Chief, Pediatric Cardiology Former Director, Children’s Heart Center, Lucile Packard Children’s Hospital at Stanford EMAIL [email protected] PROFILE med.stanford.edu/profiles/Daniel-Bernstein LAB murinecvcore.stanford.edu CURRENT RESEARCH EDUCATION/TRAINING Our recent work has focused on the mechanism by which mutations in sarcomeric proteins such MD New York University as myosin lead to the clinical phenotypes of hypertrophic cardiomyopathy (HCM). Utilizing human induced pluripotent stem cell-derived cardiomyocytes, with mutations induced by CRISPR/Cas9 PEDIATRICS RESIDENCY Montefiore Medical Center gene editing, we are undertaking a multi-scale approach ranging from structural and function studies on the single myosin molecule, to the individual myofibril, to whole cells and to microengineered MEDICAL EDUCATION FELLOWSHIP Albert Einstein College of Medicine tissues. To better understand cardiomyocyte mechano-transduction, we are applying FRET sensors in critical sarcomeric and junctional proteins. We are also studying a large biobank of myocardial PEDIATRIC CARDIOLOGY FELLOWSHIP UCSF samples from patients with HCM, combining transcriptomics and metabolomics with measurements of mitochondrial function to determine the degree to which HCM is a disease of altered cardiac BOARD CERTIFICATION Pediatrics, ABP energetics. These studies will allow us to correlate findings from hiPSC-CMs with actual patient samples. Another focus of our lab has been on the molecular mechanisms of RV hypertrophy Pediatric Cardiology, ABP and its transition to RV failure, and how this differs from LV failure. -
DPP9 Is an Endogenous and Direct Inhibitor of the NLRP1 Inflammasome That Guards Against Human Auto-Inflammatory Diseases
bioRxiv preprint doi: https://doi.org/10.1101/260919; this version posted February 7, 2018. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. DPP9 is an endogenous and direct inhibitor of the NLRP1 inflammasome that guards against human auto-inflammatory diseases Franklin L. Zhong1,2,3,*, Kim Robinson2,3, Chrissie Lim1, Cassandra R. Harapas4, Chien- Hsiung Yu4, William Xie2, Radoslaw M. Sobota1, Veonice Bijin Au1, Richard Hopkins1, John E. Connolly1,6,7, Seth Masters4,5 , Bruno Reversade1,2,8,9,10 *, # 1. Institute of Molecular and Cell Biology, A*STAR, 61 Biopolis Drive, Proteos, Singapore 138673 2. Institute of Medical Biology, A*STAR, 8A Biomedical Grove, Immunos, Singapore 138648 3. Skin Research Institute of Singapore (SRIS), 8A Biomedical Grove, Immunos, Singapore 138648 4. Inflammation division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC, 3052, Australia. 5. Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010 Australia 6. Institute of Biomedical Studies, Baylor University, Waco, Texas 76712, USA 7. Department of Microbiology and Immunology, National University of Singapore, 5 Science Drive 2, Singapore 117545 8. Reproductive Biology Laboratory, Obstetrics and Gynaecology, Academic Medical Center (AMC), Meibergdreef 9, 1105 AZ Amsterdam-Zuidoost, Netherlands 9. Department of Paediatrics, National University of Singapore, 1E Kent Ridge Road, Singapore 119228 10. Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey * Corresponding authors. F.L.Z., [email protected]; B.R., [email protected] # Lead contact 1 bioRxiv preprint doi: https://doi.org/10.1101/260919; this version posted February 7, 2018. -
EMBC Annual Report 2007
EMBO | EMBC annual report 2007 EUROPEAN MOLECULAR BIOLOGY ORGANIZATION | EUROPEAN MOLECULAR BIOLOGY CONFERENCE EMBO | EMBC table of contents introduction preface by Hermann Bujard, EMBO 4 preface by Tim Hunt and Christiane Nüsslein-Volhard, EMBO Council 6 preface by Marja Makarow and Isabella Beretta, EMBC 7 past & present timeline 10 brief history 11 EMBO | EMBC | EMBL aims 12 EMBO actions 2007 15 EMBC actions 2007 17 EMBO & EMBC programmes and activities fellowship programme 20 courses & workshops programme 21 young investigator programme 22 installation grants 23 science & society programme 24 electronic information programme 25 EMBO activities The EMBO Journal 28 EMBO reports 29 Molecular Systems Biology 30 journal subject categories 31 national science reviews 32 women in science 33 gold medal 34 award for communication in the life sciences 35 plenary lectures 36 communications 37 European Life Sciences Forum (ELSF) 38 ➔ 2 table of contents appendix EMBC delegates and advisers 42 EMBC scale of contributions 49 EMBO council members 2007 50 EMBO committee members & auditors 2007 51 EMBO council members 2008 52 EMBO committee members & auditors 2008 53 EMBO members elected in 2007 54 advisory editorial boards & senior editors 2007 64 long-term fellowship awards 2007 66 long-term fellowships: statistics 82 long-term fellowships 2007: geographical distribution 84 short-term fellowship awards 2007 86 short-term fellowships: statistics 104 short-term fellowships 2007: geographical distribution 106 young investigators 2007 108 installation -
EMBO Facts & Figures
excellence in life sciences Reykjavik Helsinki Oslo Stockholm Tallinn EMBO facts & figures & EMBO facts Copenhagen Dublin Amsterdam Berlin Warsaw London Brussels Prague Luxembourg Paris Vienna Bratislava Budapest Bern Ljubljana Zagreb Rome Madrid Ankara Lisbon Athens Jerusalem EMBO facts & figures HIGHLIGHTS CONTACT EMBO & EMBC EMBO Long-Term Fellowships Five Advanced Fellows are selected (page ). Long-Term and Short-Term Fellowships are awarded. The Fellows’ EMBO Young Investigators Meeting is held in Heidelberg in June . EMBO Installation Grants New EMBO Members & EMBO elects new members (page ), selects Young EMBO Women in Science Young Investigators Investigators (page ) and eight Installation Grantees Gerlind Wallon EMBO Scientific Publications (page ). Programme Manager Bernd Pulverer S Maria Leptin Deputy Director Head A EMBO Science Policy Issues report on quotas in academia to assure gender balance. R EMBO Director + + A Conducts workshops on emerging biotechnologies and on H T cognitive genomics. Gives invited talks at US National Academy E IC of Sciences, International Summit on Human Genome Editing, I H 5 D MAN 201 O N Washington, DC.; World Congress on Research Integrity, Rio de A M Janeiro; International Scienti c Advisory Board for the Centre for Eilish Craddock IT 2 015 Mammalian Synthetic Biology, Edinburgh. Personal Assistant to EMBO Fellowships EMBO Scientific Publications EMBO Gold Medal Sarah Teichmann and Ido Amit receive the EMBO Gold the EMBO Director David del Álamo Thomas Lemberger Medal (page ). + Programme Manager Deputy Head EMBO Global Activities India and Singapore sign agreements to become EMBC Associate + + Member States. EMBO Courses & Workshops More than , participants from countries attend 6th scienti c events (page ); participants attend EMBO Laboratory Management Courses (page ); rst online course EMBO Courses & Workshops recorded in collaboration with iBiology. -
Science & Policy Meeting Jennifer Lippincott-Schwartz Science in The
SUMMER 2014 ISSUE 27 encounters page 9 Science in the desert EMBO | EMBL Anniversary Science & Policy Meeting pageS 2 – 3 ANNIVERSARY TH page 8 Interview Jennifer E M B O 50 Lippincott-Schwartz H ©NI Membership expansion EMBO News New funding for senior postdoctoral In perspective Georgina Ferry’s enlarges its membership into evolution, researchers. EMBO Advanced Fellowships book tells the story of the growth and ecology and neurosciences on the offer an additional two years of financial expansion of EMBO since 1964. occasion of its 50th anniversary. support to former and current EMBO Fellows. PAGES 4 – 6 PAGE 11 PAGES 16 www.embo.org HIGHLIGHTS FROM THE EMBO|EMBL ANNIVERSARY SCIENCE AND POLICY MEETING transmissible cancer: the Tasmanian devil facial Science meets policy and politics tumour disease and the canine transmissible venereal tumour. After a ceremony to unveil the 2014 marks the 50th anniversary of EMBO, the 45th anniversary of the ScienceTree (see box), an oak tree planted in soil European Molecular Biology Conference (EMBC), the organization of obtained from countries throughout the European member states who fund EMBO, and the 40th anniversary of the European Union to symbolize the importance of European integration, representatives from the govern- Molecular Biology Laboratory (EMBL). EMBO, EMBC, and EMBL recently ments of France, Luxembourg, Malta, Spain combined their efforts to put together a joint event at the EMBL Advanced and Switzerland took part in a panel discussion Training Centre in Heidelberg, Germany, on 2 and 3 July 2014. The moderated by Marja Makarow, Vice President for Research of the Academy of Finland. -
Novel Mutations in the Ciliopathy-Associated Gene CPLANE1 (C5orf42) Cause OFD Syndrome Type VI Rather Than Joubert Syndrome
Accepted Manuscript Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome Carine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni, Alvin Yu Jin Ng, Sumanty Tohari, Kakaly Ghosh, Angeline Lai, Jiin Ying Lim, Ene Choo Tan, Louise Devisme, Morgane Stichelbout, Adila Alkindi, Nazreen Banu, Zafer Yüksel, Jamal Ghoumid, Nadia Elkhartoufi, Lucile Boutaud, Alessia Micalizzi, Maggie Siewyan Brett, Byrappa Venkatesh, Enza Maria Valente, Tania Attié-Bitach, Bruno Reversade, Ariana Kariminejad PII: S1769-7212(17)30410-X DOI: 10.1016/j.ejmg.2018.03.012 Reference: EJMG 3440 To appear in: European Journal of Medical Genetics Received Date: 30 June 2017 Revised Date: 28 March 2018 Accepted Date: 28 March 2018 Please cite this article as: C. Bonnard, M. Shboul, S.H. Tonekaboni, A.Y.J. Ng, S. Tohari, K. Ghosh, A. Lai, J.Y. Lim, E.C. Tan, L. Devisme, M. Stichelbout, A. Alkindi, N. Banu, Z. Yüksel, J. Ghoumid, N. Elkhartoufi, L. Boutaud, A. Micalizzi, M.S. Brett, B. Venkatesh, E.M. Valente, T. Attié-Bitach, B. Reversade, A. Kariminejad, Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome, European Journal of Medical Genetics (2018), doi: 10.1016/j.ejmg.2018.03.012. This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. -
Media Release for Immediate Release
MEDIA RELEASE FOR IMMEDIATE RELEASE 22 May 2018 New genetic findings explain how embryos form arms and legs New discovery revises biologists’ understanding of how limbs and lungs develop in humans. The current understanding of limb and lung development in humans does not capture the full picture of the process, according to research published in Nature last week. This paper describes the importance of novel genes for limb development, and shows how perceived wisdom about the process was incomplete. An international group of clinicians and researchers from Singapore, Turkey, France, Portugal and India, studied five families with either limb malformations, or tetra-amelia syndrome that is characterised by the absence of lungs and all four limbs. They found that mutations in the RSPO2 gene lead to incomplete limb development. Until now, the RSPO proteins were believed to only work with their receptors called LGRs. Together, RSPO and LGRs were thought to allow limb formation by blocking two key enzymes ZNRF3 and RNF43. Or so we thought. The team then studied mice lacking all three LGRs required for RSPO2’s function, and found that contrary to what was expected they still developed limbs and lungs normally. This indicates that RSPO2 does not need LGRs — disproving the established understanding of how this is happening. “Our results establish that even without the LGR receptors, RSPO2, can bind to other molecules and constitute a master switch that governs limb development,” says Dr Emmanuelle Szenker-Ravi, a co-first author of the study based at Agency of Science, Technology and Research’s (A*STAR) Institute of Medical Biology (IMB) in Singapore. -
Neuralization of Dissociated Xenopus Cells Is Mediated by Ras/MAPK Activation
Downloaded from genesdev.cshlp.org on September 25, 2021 - Published by Cold Spring Harbor Laboratory Press RESEARCH COMMUNICATION tive signals that act through Receptor Tyrosine kinases Default neural induction: (RTKs). Growth factors that signal via RTKs, such as neuralization of dissociated Fibroblast Growth Factor (FGF), Insulin-like Growth Factor (IGF), and Hepatocyte Growth Factor (HGF), are Xenopus cells is mediated potent neural inducers in vertebrates (Wilson and Edlund by Ras/MAPK activation 2001; De Robertis and Kuroda 2004; Stern 2004). RTK signaling activates the mitogen-activated protein kinase Hiroki Kuroda,1 Luis Fuentealba, Atsushi Ikeda, (MAPK) known as extracellular signal-regulated protein 2 kinase (ERK) via the Ras pathway, and in this way causes Bruno Reversade, and E.M. De Robertis neural induction. Howard Hughes Medical Institute and Department Two disparate views dominate the neural induction of Biological Chemistry, University of California, field at present. Work in the chick embryo has stressed Los Angeles, California 90095-1662, USA the importance of FGF signaling, whereas work in Xeno- pus has tended to emphasize the requirement for anti- Xenopus embryonic ectodermal cells dissociated for BMPs in neural induction (Harland 2000; Stern 2004). three or more hours differentiate into neural tissue in- We have argued that these apparently conflicting obser- stead of adopting their normal epidermal fate. This de- vations can be reconciled through a molecular mecha- nism in which Ras/MAPK phosphorylation regulates the fault type of neural induction occurs in the absence of BMP transducers Smad1/5/8 (De Robertis and Kuroda Spemann’s organizer signals and is thought to be caused 2004). -
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R-Spondin Signalling Is Essential for the Maintenance And
RESEARCH ARTICLE R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors Valerie PI Vidal1, Fariba Jian-Motamedi1, Samah Rekima1, Elodie P Gregoire1, Emmanuelle Szenker-Ravi2, Marc Leushacke2, Bruno Reversade2, Marie-Christine Chaboissier1, Andreas Schedl1* 1Universite´ Coˆte d’Azur, Inserm, CNRS, Institut de Biologie Valrose, Nice, France; 2Institute of Medical Biology, A*STAR, Singapore, Singapore Abstract During kidney development, WNT/b-catenin signalling has to be tightly controlled to ensure proliferation and differentiation of nephron progenitor cells. Here, we show in mice that the signalling molecules RSPO1 and RSPO3 act in a functionally redundant manner to permit WNT/b- catenin signalling and their genetic deletion leads to a rapid decline of nephron progenitors. By contrast, tissue specific deletion in cap mesenchymal cells abolishes mesenchyme to epithelial transition (MET) that is linked to a loss of Bmp7 expression, absence of SMAD1/5 phosphorylation and a concomitant failure to activate Lef1, Fgf8 and Wnt4, thus explaining the observed phenotype on a molecular level. Surprisingly, the full knockout of LGR4/5/6, the cognate receptors of R-spondins, only mildly affects progenitor numbers, but does not interfere with MET. Taken together our data demonstrate key roles for R-spondins in permitting stem cell maintenance and differentiation and reveal Lgr-dependent and independent functions for these ligands during kidney formation. *For correspondence: [email protected] Introduction Nephron endowment is a critical factor for renal health and low number of nephrons have been asso- Competing interests: The ciated with chronic kidney disease and hypertension (Bertram et al., 2011). In mammals, nephro- authors declare that no genesis is restricted to the developmental period and involves a dedicated nephrogenic niche at the competing interests exist. -
DPP9 Deficiency: an Inflammasomopathy Which Can Be Rescued by Lowering NLRP1/IL-1 Signaling
medRxiv preprint doi: https://doi.org/10.1101/2021.01.31.21250067; this version posted February 3, 2021. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission. DPP9 deficiency: an Inflammasomopathy which can be rescued by lowering NLRP1/IL-1 signaling 1,2,$ 3,$ 4,$ 4 Cassandra R. HARAPAS , Kim S. ROBINSON , Kenneth LAY , Jasmine WONG , 5 6,7,8 6 Annick RAAS-ROTHSCHILD , Bertrand BOISSON , Scott B. DRUTMAN , Pawat 1,2 9 10 1,2 LAOHAMONTHONKUL , Devon BONNER , Mark GORRELL , Sophia DAVIDSON , 1,2 11 12 Chien-Hsiung YU , Hulya KAYSERILI , Nevin HATIPOGLU , Jean-Laurent 6,7,8,13,14 15 3,* CASANOVA , Jonathan A. BERNSTEIN , Franklin L. ZHONG , Seth L. 1,2,* 4,10,16* MASTERS , Bruno REVERSADE Affiliations: 1. Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia 2. Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia 3. SRIS, A*STAR, Singapore 4. Genome Institute of Singapore (GIS), A*STAR, Singapore 5. The Institute for Rare Diseases, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel 6. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA 7. Paris University, Imagine Institute, Paris, France 8. Laboratory of Human Genetics of Infectious Disease, Necker Branch, INSERM U1163, Paris, France 9. Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA. -
Life Changing Science
LIFE CHANGING SCIENCE The Francis Crick Institute Annual Review 2017/18 AN INSTITUTE FOR DISCOVERY Our commitment to excellence, our emphasis on multidisciplinary research, our focus on young and emerging talent and our novel ways of partnership working are some of the factors that set the Crick apart. Front cover Vaccinia virus infection (green) disrupts a layer of epithelial cells (red/blue). Courtesy of Michael Way, Group Leader at the Crick. INTRODUCTION 2 Who we are Our year at a glance 2 Introduction by Paul Nurse 4 The Francis Crick Institute is a biomedical Progress against our strategy 6 discovery institute dedicated to understanding the RESEARCH HIGHLIGHTS 10 Cancer-causing mutation fundamental biology underlying health and disease. suppresses immune system 11 Our work is helping to build an understanding of Predicting lung cancer’s return 12 New understanding of human why disease develops and to translate discoveries embryo development 14 Chemical attraction could improve into new ways to prevent, diagnose and treat cancer immunotherapy 16 illnesses such as cancer, heart disease, stroke, Genes linked to malaria parasites’ persistence 17 infections and neurodegenerative diseases. Architecture of our ‘second brain’ 18 Cause of infertility side-stepped in mice 19 Mechanism for spinal cord development discovered 20 A new layer of complexity in embryo development 21 Two DNAs wedded with this ring 22 Unravelling how DNA gets copied 23 Telomerase’s dark side discovered 24 REVIEW OF THE YEAR 26 New group leaders arrive 27 Joined-up thinking 30 Focusing on the molecules of life 32 CryoEM at the Crick 34 Bringing academia and industry closer together 36 The people making research happen 38 Patterns in art and science 40 Rewarding research 42 Appointments 43 Supporting new discoveries 44 Our vision What’s inside Our vision is to be a world- We bring together outstanding scientists Science feature 32 leading multidisciplinary from all disciplines and carry out research Sophisticated microscopy is being biomedical research institute.