Carine Le Goff

Carine Le Goff

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Carine Le Goff

Carine Le Goff

Publications by authors named "Carine Le Goff"

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Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.

FASEB J 2019 02 10;33(2):2707-2718. Epub 2018 Oct 10.

INSERM Unité Mixte de Recherche (UMR) 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute, Paris Descartes University-Sorbonne Paris Cité, Paris, France.

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https://www.fasebj.org/doi/10.1096/fj.201800753RR
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http://dx.doi.org/10.1096/fj.201800753RRDOI Listing
February 2019

Hypoalphalipoproteinemia and BRAF Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease.

Arterioscler Thromb Vasc Biol 2018 08;38(8):1913-1925

Inserm, Institute of Cardiometabolism and Nutrition (ICAN), UMR_S1166, Hôpital de la Pitié, Sorbonne Université, Paris, France (M.G., F.S.-C., Y.A., E.F., P.L., W.L.G.).

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http://dx.doi.org/10.1161/ATVBAHA.118.310803DOI Listing
August 2018

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

Am J Hum Genet 2016 08 14;99(2):407-13. Epub 2016 Jul 14.

Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes-Sorbonne Paris Cité University, AP-HP, Institut Imagine, and Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974068PMC
August 2016

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

J Med Genet 2016 07 11;53(7):457-64. Epub 2016 Apr 11.

Department of Genetics, Reference Center for Skeletal Dysplasia, Paris Descartes University-Sorbonne Paris Cité, INSERM U MR1163, IMAGINE Institute, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2015-103647DOI Listing
July 2016

Chondrodysplasias and TGFβ signaling.

Bonekey Rep 2015 11;4:642. Epub 2015 Mar 11.

INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasias, Department of Genetics, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants Malades Hospital, Imagine Institute , Paris, France.

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http://dx.doi.org/10.1038/bonekey.2015.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357213PMC
March 2015

Novel mutations in geleophysic dysplasia type 1.

Pediatr Dev Pathol 2014 May-Jun;17(3):209-16. Epub 2013 Nov 19.

1  Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.2350/13-08-1370-CR.1DOI Listing
September 2014

Orthopedics management of acromicric dysplasia: follow up of nine patients.

Am J Med Genet A 2014 Feb 11;164A(2):331-7. Epub 2013 Dec 11.

Département de Génétique Médicale, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut imagine, Hôpital Necker Enfants Malades, Paris, France; Département de chirurgie orthopédique pédiatrique, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants-Malades, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.36139
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http://dx.doi.org/10.1002/ajmg.a.36139DOI Listing
February 2014

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Hum Mutat 2013 Jan 16;34(1):88-92. Epub 2012 Oct 16.

Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker, Paris, France.

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http://dx.doi.org/10.1002/humu.22216DOI Listing
January 2013

From tall to short: the role of TGFβ signaling in growth and its disorders.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):145-53. Epub 2012 Jul 12.

Département de Génétique, Unité INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.c.31337
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http://dx.doi.org/10.1002/ajmg.c.31337DOI Listing
August 2012

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Nat Genet 2011 Dec 11;44(1):85-8. Epub 2011 Dec 11.

Département de Génétique, Unité INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1038/ng.1016DOI Listing
December 2011

The ADAMTS(L) family and human genetic disorders.

Hum Mol Genet 2011 Oct 31;20(R2):R163-7. Epub 2011 Aug 31.

Département de Génétique, Unité INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Tour Lavoisier, 149 rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddr361DOI Listing
October 2011

In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome.

Eur J Hum Genet 2010 Jan;18(1):130-2

Département de Génétique, Université Paris Descartes, INSERM U781, Assistance Publique-Hôitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2009.122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987166PMC
January 2010

Adamts5, the gene encoding a proteoglycan-degrading metalloprotease, is expressed by specific cell lineages during mouse embryonic development and in adult tissues.

Gene Expr Patterns 2009 Jun 27;9(5):314-23. Epub 2009 Feb 27.

Department of Biomedical Engineering and Orthopaedic and Rheumatologic Institute, ND20-Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1016/j.gep.2009.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2725439PMC
June 2009

Genetic and molecular aspects of acromelic dysplasia.

Pediatr Endocrinol Rev 2009 Mar;6(3):418-23

Department of Genetics, Université Paris Descartes, INSERM U781, Hôpital Necker Enfants malades, Paris, France.

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March 2009

ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis.

Matrix Biol 2007 Jul 30;26(6):431-41. Epub 2007 Mar 30.

Department of Biomedical Engineering and Orthopaedic Research Center, Lerner Research Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1016/j.matbio.2007.03.003DOI Listing
July 2007

Positive role of cell wall anchored proteinase PrtP in adhesion of lactococci.

BMC Microbiol 2007 May 2;7:36. Epub 2007 May 2.

Unité Mixte de Recherche en Bioadhésion et Hygiène des Matériaux, INRA-ENSIA, 91744 Massy cedex, France.

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http://dx.doi.org/10.1186/1471-2180-7-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1876236PMC
May 2007

Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis.

Development 2006 Apr;133(8):1587-96

Department of Biomedical Engineering and Orthopaedic Research Center, Lerner Research Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

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http://dev.biologists.org/cgi/doi/10.1242/dev.02308
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http://dx.doi.org/10.1242/dev.02308DOI Listing
April 2006

Adamts9 is widely expressed during mouse embryo development.

Gene Expr Patterns 2005 Jun 20;5(5):609-17. Epub 2005 Apr 20.

Department of Biomedical Engineering and Orthopaedic Research Center, Lerner Research Institute, Cleveland Clinic Foundation (ND20), OH 44195, USA.

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http://dx.doi.org/10.1016/j.modgep.2005.03.004DOI Listing
June 2005