Bruno Reversade

Bruno Reversade

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Bruno Reversade

Bruno Reversade

Publications by authors named "Bruno Reversade"

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Novel mutation in in a family with diffuse white matter lesions and inflammatory features.

Neurol Genet 2019 Aug 8;5(4):e345. Epub 2019 Jul 8.

Translational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.

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http://dx.doi.org/10.1212/NXG.0000000000000345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659136PMC
August 2019

Generation of four H1 hESC sublines carrying a hemizygous knock-out/mutant MECP2.

Stem Cell Res 2019 Aug 9;40:101533. Epub 2019 Aug 9.

Translational Laboratory in Genetic Medicine, Agency for Science, Technology and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, 138648, Singapore; Department of Medicine, National University of Singapore, 117597, Singapore; Department of Physiology, National University of Singapore, 117597, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101533DOI Listing
August 2019

Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease.

Bone 2019 Jun 11;123:48-55. Epub 2018 Oct 11.

Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Med. Dept. Hanusch Hospital, Vienna, Austria; Orthopedic Hospital of Speising, Pediatric Department, Vienna, Austria.

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http://dx.doi.org/10.1016/j.bone.2018.10.008DOI Listing
June 2019

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

BMC Med Genet 2018 07 24;19(1):125. Epub 2018 Jul 24.

Human Genetics Unit, Faculty of Medicine, University of Colombo, 25 Kinsey Place, Colombo, 08, Sri Lanka.

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http://dx.doi.org/10.1186/s12881-018-0646-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057103PMC
July 2018

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

J Biol Chem 2018 06 10;293(25):9841-9853. Epub 2018 May 10.

From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia,

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http://dx.doi.org/10.1074/jbc.RA118.003104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016475PMC
June 2018

Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS.

Cancer Cell 2018 03 22;33(3):386-400.e5. Epub 2018 Feb 22.

Division of Hematology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Center for Cellular and Molecular Medicine, Kyushu University Hospital, Fukuoka 812-8582, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ccell.2018.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849534PMC
March 2018

ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.

J Invest Dermatol 2018 02 28;138(2):291-300. Epub 2017 Sep 28.

Laboratory of Human Genetics and Embryology, Institute of Medical Biology, A*STAR, Singapore, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.08.045DOI Listing
February 2018

ELABELA-APJ axis protects from pressure overload heart failure and angiotensin II-induced cardiac damage.

Cardiovasc Res 2017 Jun;113(7):760-769

Department of Biochemistry and Metabolic Science, Akita University Graduate School of Medicine, 1-1-1 Hondo, Akita 010-8543, Japan.

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http://dx.doi.org/10.1093/cvr/cvx061DOI Listing
June 2017

Long-Term Culture of Self-renewing Pancreatic Progenitors Derived from Human Pluripotent Stem Cells.

Stem Cell Reports 2017 06;8(6):1675-1688

Institute of Medical Biology, Agency for Science Technology and Research (A(∗)STAR), 8a Biomedical Grove, #06-06 Immunos, Singapore 138648, Singapore; Lee Kong Chian School of Medicine, Nanyang Technological University, 50 Nanyang Avenue, Singapore 639798, Singapore; School of Biological Sciences, Nanyang Technological University, 60 Nanyang Drive, Singapore 637551, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2017.05.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470345PMC
June 2017

Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics.

Sci Rep 2017 01 12;7:39902. Epub 2017 Jan 12.

Department of Genetic Disease Research, Osaka City University, Graduate School of Medicine, Asahi-machi 1-4-3, Abeno, Osaka 545-8585, Japan.

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http://dx.doi.org/10.1038/srep39902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5228124PMC
January 2017

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization.

Bone Rep 2016 Dec 13;5:86-95. Epub 2016 Apr 13.

Department of Medicine, Division of Endocrinology and Metabolism, Institute for Human Genetics, Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143-0794, USA.

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http://dx.doi.org/10.1016/j.bonr.2016.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926823PMC
December 2016

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.

Cell 2016 Sep;167(1):187-202.e17

Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey; Department of Paediatrics, National University of Singapore, Singapore 119228, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2016.09.001DOI Listing
September 2016

Discovery and Structure-Activity Relationship of a Bioactive Fragment of ELABELA that Modulates Vascular and Cardiac Functions.

J Med Chem 2016 Apr 30;59(7):2962-72. Epub 2016 Mar 30.

Département de Pharmacologie et Physiologie, Faculté de Médecine et des Sciences de la Santé, Université de Sherbrooke , Sherbrooke, J1H 5N4 Québec, Canada.

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http://dx.doi.org/10.1021/acs.jmedchem.5b01549DOI Listing
April 2016

The Apelin receptor enhances Nodal/TGFβ signaling to ensure proper cardiac development.

Elife 2016 04 14;5. Epub 2016 Apr 14.

Program in Developmental and Stem Cell Biology, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.7554/eLife.13758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859801PMC
April 2016

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

EBioMedicine 2016 Mar 4;5:211-6. Epub 2016 Feb 4.

Genome Institute of Singapore, ASTAR, Singapore; Cardiovascular Research Institute, National University of Singapore, National University Health System, Singapore.

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http://dx.doi.org/10.1016/j.ebiom.2016.01.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816806PMC
March 2016

Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders.

Eur J Hum Genet 2016 Jan 22;24(1):113-9. Epub 2015 Apr 22.

Bioinformatics Interdepartmental Program, University of California Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1038/ejhg.2015.68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795218PMC
January 2016

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

Am J Med Genet A 2015 Nov 20;167A(11):2508-15. Epub 2015 Jul 20.

Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37248DOI Listing
November 2015

ELABELA Is an Endogenous Growth Factor that Sustains hESC Self-Renewal via the PI3K/AKT Pathway.

Cell Stem Cell 2015 Oct 17;17(4):435-47. Epub 2015 Sep 17.

Institute of Medical Biology, Human Genetics and Embryology Laboratory, A(∗)STAR, Singapore 138648; Institute of Molecular and Cell Biology, A(∗)STAR, Singapore 138673. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2015.08.010DOI Listing
October 2015

Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.

Hum Mol Genet 2015 Jun 24;24(11):3163-71. Epub 2015 Feb 24.

Institute of Medical Biology, A*STAR, 8A Biomedical Grove, Singapore 138648, Singapore Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore

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http://dx.doi.org/10.1093/hmg/ddv067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424953PMC
June 2015

Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.

J Invest Dermatol 2015 Jan 22;135(1):304-308. Epub 2014 Jul 22.

Laboratory of Human Embryology and Genetics, Institute of Medical Biology, A*STAR, Singapore, Singapore; Department of Paediatrics, National University of Singapore, Singapore, Singapore. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4269804PMC
January 2015

Katanin p80 regulates human cortical development by limiting centriole and cilia number.

Neuron 2014 Dec;84(6):1240-57

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA; Harvard MD-PhD MSTP Program, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485387PMC
December 2014

The snRNA-processing complex, Integrator, is required for ciliogenesis and dynein recruitment to the nuclear envelope via distinct mechanisms.

Biol Open 2013 Dec 15;2(12):1390-6. Epub 2013 Dec 15.

Department of Cell and Developmental Biology, Vanderbilt University Medical Center, Nashville, TN 37232-8240, USA.

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http://dx.doi.org/10.1242/bio.20136981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863424PMC
December 2013

ELABELA: a hormone essential for heart development signals via the apelin receptor.

Dev Cell 2013 Dec 5;27(6):672-80. Epub 2013 Dec 5.

Institute of Medical Biology, Human Genetics and Embryology Laboratory, A(∗)STAR, Singapore 138648, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138673, Singapore; Department of Pediatrics, National University of Singapore, Singapore 119260, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2013.11.002DOI Listing
December 2013

Nuclear-localized Asunder regulates cytoplasmic dynein localization via its role in the integrator complex.

Mol Biol Cell 2013 Sep 31;24(18):2954-65. Epub 2013 Jul 31.

Department of Cell and Developmental Biology, Vanderbilt University Medical Center, Nashville, TN 37232-8240 Department of Biochemistry and Molecular Biology, University of Texas Medical School at Houston, Houston, TX 77030 Institute of Medical Biology, A*STAR, Singapore 138648 Department of Pediatrics, National University of Singapore, Singapore 119228.

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http://dx.doi.org/10.1091/mbc.E13-05-0254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771956PMC
September 2013

Optimal histone H3 to linker histone H1 chromatin ratio is vital for mesodermal competence in Xenopus.

Development 2013 Feb 14;140(4):853-60. Epub 2013 Jan 14.

Mammalian Development Laboratory, Institute of Medical Biology, Singapore.

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http://dx.doi.org/10.1242/dev.086611DOI Listing
February 2013

Human Asunder promotes dynein recruitment and centrosomal tethering to the nucleus at mitotic entry.

Mol Biol Cell 2012 Dec 24;23(24):4713-24. Epub 2012 Oct 24.

Department of Cell and Developmental Biology, Vanderbilt University Medical Center, Nashville, TN 37232-8240, USA.

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http://dx.doi.org/10.1091/mbc.E12-07-0558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521680PMC
December 2012

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

Nat Genet 2012 May 13;44(6):709-13. Epub 2012 May 13.

Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.

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http://dx.doi.org/10.1038/ng.2259DOI Listing
May 2012

The opposing homeobox genes Goosecoid and Vent1/2 self-regulate Xenopus patterning.

EMBO J 2007 Jun 24;26(12):2955-65. Epub 2007 May 24.

Howard Hughes Medical Institute and Department of Biological Chemistry, University of California-Los Angeles, 675 Charles Young Drive South, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1038/sj.emboj.7601705DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1894760PMC
June 2007

Embryonic dorsal-ventral signaling: secreted frizzled-related proteins as inhibitors of tolloid proteinases.

Cell 2006 Jan;124(1):147-59

Howard Hughes Medical Institute, Department of Biological Chemistry, University of California, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1016/j.cell.2005.12.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2486255PMC
January 2006

Regulation of ADMP and BMP2/4/7 at opposite embryonic poles generates a self-regulating morphogenetic field.

Cell 2005 Dec;123(6):1147-60

Howard Hughes Medical Institute and Department of Biological Chemistry, University of California, Los Angeles, Los Angeles, CA 90095, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S009286740501035
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http://dx.doi.org/10.1016/j.cell.2005.08.047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2292129PMC
December 2005

Depletion of Bmp2, Bmp4, Bmp7 and Spemann organizer signals induces massive brain formation in Xenopus embryos.

Development 2005 Aug 23;132(15):3381-92. Epub 2005 Jun 23.

Howard Hughes Medical Institute and Department of Biological Chemistry, University of California, Los Angeles, CA 90095-1662, USA.

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http://dev.biologists.org/cgi/doi/10.1242/dev.01901
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http://dx.doi.org/10.1242/dev.01901DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2278118PMC
August 2005

Sirenomelia in Bmp7 and Tsg compound mutant mice: requirement for Bmp signaling in the development of ventral posterior mesoderm.

Development 2005 May 20;132(10):2489-99. Epub 2005 Apr 20.

Howard Hughes Medical Institute, and Department of Biological Chemistry, University of California, Los Angeles, CA 90095-1662, USA.

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http://dev.biologists.org/cgi/doi/10.1242/dev.01822
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http://dx.doi.org/10.1242/dev.01822DOI Listing
May 2005

Default neural induction: neuralization of dissociated Xenopus cells is mediated by Ras/MAPK activation.

Genes Dev 2005 May;19(9):1022-7

Howard Hughes Medical Institute and Department of Biological Chemistry, University of California, Los Angeles, CA 90095-1662, USA.

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http://www.genesdev.org/cgi/doi/10.1101/gad.1306605
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http://dx.doi.org/10.1101/gad.1306605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1091736PMC
May 2005

The pro-BMP activity of Twisted gastrulation is independent of BMP binding.

Development 2003 Sep;130(17):4047-56

Howard Hughes Medical Institute and Department of Biological Chemistry, University of California-Los Angeles, Los Angeles, CA 90095-1662, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2277362PMC
http://dx.doi.org/10.1242/dev.00633DOI Listing
September 2003

Chordin is required for the Spemann organizer transplantation phenomenon in Xenopus embryos.

Dev Cell 2003 Feb;4(2):219-30

Howard Hughes Medical Institute and Department of Biological Chemistry, University of California, Los Angeles, Los Angeles, CA 90095, USA.

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February 2003

Connective-tissue growth factor (CTGF) modulates cell signalling by BMP and TGF-beta.

Nat Cell Biol 2002 Aug;4(8):599-604

Howard Hughes Medical Institute and Department of Biological Chemistry, University of California, Riverside, 9095-1662, USA.

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http://dx.doi.org/10.1038/ncb826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2387275PMC
August 2002