Charles A Leduc

Charles A Leduc

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Charles A Leduc

Charles A Leduc

Publications by authors named "Charles A Leduc"

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Homozygous noncanonical splice variant in in two siblings with multiple congenital anomalies and global developmental delay.

Cold Spring Harb Mol Case Stud 2019 Jun 3;5(3). Epub 2019 Jun 3.

Department of Pediatrics, Columbia University, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/mcs.a004101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549555PMC
June 2019

Transgenic substitution with Greater Amberjack Seriola dumerili fish insulin 2 in NOD mice reduces beta cell immunogenicity.

Sci Rep 2019 Mar 21;9(1):4965. Epub 2019 Mar 21.

Division of Molecular Genetics, Department of Pediatrics and Naomi Berrie Diabetes Center, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1038/s41598-019-40768-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428854PMC
March 2019

DMSO increases efficiency of genome editing at two non-coding loci.

PLoS One 2018 4;13(6):e0198637. Epub 2018 Jun 4.

Naomi Berrie Diabetes Center, Columbia University Medical Center, New York, NY, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0198637PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986138PMC
January 2019

ILDR2 has a negligible role in hepatic steatosis.

PLoS One 2018 30;13(5):e0197548. Epub 2018 May 30.

Naomi Berrie Diabetes Center and Division of Molecular Genetics, Department of Pediatrics, Columbia University, New York, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0197548PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976177PMC
December 2018

Evidence for a Non-leptin System that Defends against Weight Gain in Overfeeding.

Cell Metab 2018 08 21;28(2):289-299.e5. Epub 2018 Jun 21.

Department of Medicine, Naomi Berrie Diabetes Center, Columbia University, 1150 St. Nicholas Avenue, New York, NY 10032, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15504131183038
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http://dx.doi.org/10.1016/j.cmet.2018.05.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082718PMC
August 2018

The role of Rpgrip1l, a component of the primary cilium, in adipocyte development and function.

FASEB J 2018 07 21;32(7):3946-3956. Epub 2018 Feb 21.

Naomi Berrie Diabetes Center, Columbia University Medical Center, New York, New York, USA.

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http://dx.doi.org/10.1096/fj.201701216RDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998974PMC
July 2018

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Am J Hum Genet 2018 07;103(1):100-114

IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; The Scripps Laboratories for tRNA Synthetase Research, The Scripps Research Institute, 10650 North Torrey Pines Road, La Jolla, CA 92037, USA; The Scripps Laboratories for tRNA Synthetase Research, Scripps Florida, 130 Scripps Way, Jupiter, FL 33458, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035289PMC
July 2018

Energy homeostasis in leptin deficient Lepob/ob mice.

PLoS One 2017 20;12(12):e0189784. Epub 2017 Dec 20.

Department of Pediatrics, Columbia University, New York City, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0189784PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738099PMC
January 2018

Weight Perturbation Alters Leptin Signal Transduction in a Region-Specific Manner throughout the Brain.

PLoS One 2017 20;12(1):e0168226. Epub 2017 Jan 20.

Department of Pediatrics, Division of Molecular Genetics, Columbia University, College of Physicians and Surgeons, New York, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0168226PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5249166PMC
August 2017

Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS.

Stem Cell Res 2016 11 16;17(3):526-530. Epub 2016 Aug 16.

Columbia University, Department of Pediatrics, Division of Molecular Genetics, United States; Naomi Berrie Diabetes Center, United States; New York Obesity Research Center, United States. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2016.08.008DOI Listing
November 2016

ZNF70, a novel ILDR2-interacting protein, contributes to the regulation of HES1 gene expression.

Biochem Biophys Res Commun 2016 09 25;477(4):712-716. Epub 2016 Jun 25.

Division of Human Genetics, Center for Molecular Medicine, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, Tochigi, 329-0498, Japan.

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http://dx.doi.org/10.1016/j.bbrc.2016.06.124DOI Listing
September 2016

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

Am J Hum Genet 2016 Mar;98(3):562-570

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston TX 77030, USA.

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http://www.cell.com/ajhg/pdf/S0002-9297(16)00017-3.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971600017
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http://dx.doi.org/10.1016/j.ajhg.2016.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800043PMC
March 2016

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.

Authors:
Tuomas O Kilpeläinen Jayne F Martin Carli Alicja A Skowronski Qi Sun Jennifer Kriebel Mary F Feitosa Åsa K Hedman Alexander W Drong James E Hayes Jinghua Zhao Tune H Pers Ursula Schick Niels Grarup Zoltán Kutalik Stella Trompet Massimo Mangino Kati Kristiansson Marian Beekman Leo-Pekka Lyytikäinen Joel Eriksson Peter Henneman Jari Lahti Toshiko Tanaka Jian'an Luan Fabiola Del Greco M Dorota Pasko Frida Renström Sara M Willems Anubha Mahajan Lynda M Rose Xiuqing Guo Yongmei Liu Marcus E Kleber Louis Pérusse Tom Gaunt Tarunveer S Ahluwalia Yun Ju Sung Yolande F Ramos Najaf Amin Antoinette Amuzu Inês Barroso Claire Bellis John Blangero Brendan M Buckley Stefan Böhringer Yii-Der I Chen Anton J N de Craen David R Crosslin Caroline E Dale Zari Dastani Felix R Day Joris Deelen Graciela E Delgado Ayse Demirkan Francis M Finucane Ian Ford Melissa E Garcia Christian Gieger Stefan Gustafsson Göran Hallmans Susan E Hankinson Aki S Havulinna Christian Herder Dena Hernandez Andrew A Hicks David J Hunter Thomas Illig Erik Ingelsson Andreea Ioan-Facsinay John-Olov Jansson Nancy S Jenny Marit E Jørgensen Torben Jørgensen Magnus Karlsson Wolfgang Koenig Peter Kraft Joanneke Kwekkeboom Tiina Laatikainen Karl-Heinz Ladwig Charles A LeDuc Gordon Lowe Yingchang Lu Pedro Marques-Vidal Christa Meisinger Cristina Menni Andrew P Morris Richard H Myers Satu Männistö Mike A Nalls Lavinia Paternoster Annette Peters Aruna D Pradhan Tuomo Rankinen Laura J Rasmussen-Torvik Wolfgang Rathmann Treva K Rice J Brent Richards Paul M Ridker Naveed Sattar David B Savage Stefan Söderberg Nicholas J Timpson Liesbeth Vandenput Diana van Heemst Hae-Won Uh Marie-Claude Vohl Mark Walker Heinz-Erich Wichmann Elisabeth Widén Andrew R Wood Jie Yao Tanja Zeller Yiying Zhang Ingrid Meulenbelt Margreet Kloppenburg Arne Astrup Thorkild I A Sørensen Mark A Sarzynski D C Rao Pekka Jousilahti Erkki Vartiainen Albert Hofman Fernando Rivadeneira André G Uitterlinden Eero Kajantie Clive Osmond Aarno Palotie Johan G Eriksson Markku Heliövaara Paul B Knekt Seppo Koskinen Antti Jula Markus Perola Risto K Huupponen Jorma S Viikari Mika Kähönen Terho Lehtimäki Olli T Raitakari Dan Mellström Mattias Lorentzon Juan P Casas Stefanie Bandinelli Winfried März Aaron Isaacs Ko W van Dijk Cornelia M van Duijn Tamara B Harris Claude Bouchard Matthew A Allison Daniel I Chasman Claes Ohlsson Lars Lind Robert A Scott Claudia Langenberg Nicholas J Wareham Luigi Ferrucci Timothy M Frayling Peter P Pramstaller Ingrid B Borecki Dawn M Waterworth Sven Bergmann Gérard Waeber Peter Vollenweider Henrik Vestergaard Torben Hansen Oluf Pedersen Frank B Hu P Eline Slagboom Harald Grallert Tim D Spector J W Jukema Robert J Klein Erik E Schadt Paul W Franks Cecilia M Lindgren Rudolph L Leibel Ruth J F Loos

Nat Commun 2016 Feb 1;7:10494. Epub 2016 Feb 1.

MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.

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http://dx.doi.org/10.1038/ncomms10494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4740377PMC
February 2016

Effects of a novel MC4R agonist on maintenance of reduced body weight in diet-induced obese mice.

Obesity (Silver Spring) 2014 May 9;22(5):1287-95. Epub 2014 Jan 9.

Department of Pediatrics, Division of Molecular Genetics, Columbia University, College of Physicians and Surgeons, New York, NY, USA.

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http://dx.doi.org/10.1002/oby.20678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4008720PMC
May 2014

Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.

Cell Metab 2014 May;19(5):767-79

Naomi Berrie Diabetes Center and Division of Molecular Genetics, Department of Pediatrics, College of Physicians and Surgeons of Columbia University, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2014.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131684PMC
May 2014

ILDR2: an endoplasmic reticulum resident molecule mediating hepatic lipid homeostasis.

PLoS One 2013 24;8(6):e67234. Epub 2013 Jun 24.

Naomi Berrie Diabetes Center and Department of Pediatrics, Columbia University, New York, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0067234PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3691114PMC
February 2014

Effects of ambient temperature on adaptive thermogenesis during maintenance of reduced body weight in mice.

Am J Physiol Regul Integr Comp Physiol 2012 Aug 3;303(4):R438-48. Epub 2012 Jul 3.

Department of Pediatrics, Division of Molecular Genetics, Columbia University, College of Physicians and Surgeons, New York, New York, USA.

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http://dx.doi.org/10.1152/ajpregu.00092.2012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3423991PMC
August 2012

Novel splice mutation in microthalmia-associated transcription factor in Waardenburg Syndrome.

Genet Test Mol Biomarkers 2011 Jul-Aug;15(7-8):525-9. Epub 2011 Mar 27.

Department of Pediatrics, Columbia University, New York, New York 10032, USA.

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http://dx.doi.org/10.1089/gtmb.2010.0277DOI Listing
November 2011

A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis.

J Inherit Metab Dis 2011 Oct 11;34(5):1013-22. Epub 2011 May 11.

Department of Pediatrics, Columbia University, New York, NY 10032, USA.

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http://link.springer.com/10.1007/s10545-011-9343-3
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http://dx.doi.org/10.1007/s10545-011-9343-3DOI Listing
October 2011

Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling.

J Biol Chem 2011 Jan 31;286(3):2155-70. Epub 2010 Oct 31.

Division of Molecular Genetics, Department of Pediatrics and Naomi Berrie Diabetes Center, Columbia University, New York, New York 10032, USA.

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http://dx.doi.org/10.1074/jbc.M110.188482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3023512PMC
January 2011

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

Prenat Diagn 2009 Jun;29(6):560-9

Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1002/pd.2238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2735827PMC
June 2009

Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2.

Neurobiol Dis 2009 Mar 25;33(3):499-508. Epub 2008 Dec 25.

Division of Molecular Genetics and the Naomi Berrie Diabetes Center, Columbia University Medical College, Russell Berrie Medical Science Pavilion, Room 620, 1150 St. Nicholas Avenue, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/j.nbd.2008.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643333PMC
March 2009

Functional consequences of the human leptin receptor (LEPR) Q223R transversion.

Obesity (Silver Spring) 2009 Jan 6;17(1):126-35. Epub 2008 Nov 6.

Department of Pediatrics, Division of Molecular Genetics, Naomi Berrie Diabetes Center, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1038/oby.2008.489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808713PMC
January 2009

Reproducibility and accuracy of body composition assessments in mice by dual energy x-ray absorptiometry and time domain nuclear magnetic resonance.

Int J Body Compos Res 2009 ;7(4):147-154

Division of Molecular Genetics, Department of Pediatrics, Columbia University, New York, NY.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3169293PMC
January 2009

Regulation of Fto/Ftm gene expression in mice and humans.

Am J Physiol Regul Integr Comp Physiol 2008 Apr 6;294(4):R1185-96. Epub 2008 Feb 6.

Division of Molecular Genetics, Naomi Berrie Diabetes Center, Columbia University, New York, New York 10032, USA.

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http://dx.doi.org/10.1152/ajpregu.00839.2007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808712PMC
April 2008

The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain protein.

J Clin Invest 2002 Nov;110(10):1449-59

Division of Molecular Genetics, Department of Pediatrics, Institute of Human Nutrition, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1172/JCI16131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC151815PMC
November 2002