Publications by authors named "Philippe Duquesnoy"

39Publications

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

J Allergy Clin Immunol 2020 Apr 6;145(4):1254-1261. Epub 2019 Dec 6.

Sorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM), "Childhood genetic disorders", Paris, France; Département de Génétique Médicale, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.11.035DOI Listing
April 2020

Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria.

J Invest Dermatol 2020 Apr 9;140(4):791-798.e2. Epub 2019 Sep 9.

Sorbonne Université, INSERM, Hôpital Trousseau, Maladies génétiques d'expression pédiatrique, Paris, France; Unité Fonctionnelle de génétique moléculaire, Assistance Publique-Hôpitaux de Paris, Hôpital Trousseau, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.06.153DOI Listing
April 2020

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.

Am J Hum Genet 2019 07 6;105(1):198-212. Epub 2019 Jun 6.

Sorbonne Université, Institut National de la Santé et de la Recherche Médicale U933, Hôpital Trousseau, Paris 75012, France; Assistance Publique-Hôpitaux de Paris, Département de Génétique Médicale, Hôpital Trousseau, Paris 75012, France.

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http://dx.doi.org/10.1016/j.ajhg.2019.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612517PMC
July 2019

Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages.

PLoS One 2019 17;14(5):e0217005. Epub 2019 May 17.

Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Service de Génétique et d'Embryologie médicale, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0217005PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524798PMC
January 2020

Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation.

PLoS One 2017 12;12(4):e0175336. Epub 2017 Apr 12.

Sorbonne Université, UPMC Univ Paris 06, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Service de Génétique et d'Embryologie médicales, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0175336PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389804PMC
April 2017

Surfactant protein A: A key player in lung homeostasis.

Int J Biochem Cell Biol 2016 12 9;81(Pt A):151-155. Epub 2016 Nov 9.

Service de pneumologie pédiatrique, Hôpital Armand Trousseau, Assistance Publique Hôpitaux de Paris, Centre national de référence des maladies respiratoires rares RespiRare, Paris 75012, France; Inserm UMRS933, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, Paris 75012, France. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2016.11.003DOI Listing
December 2016

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

Hum Mol Genet 2016 Apr 19;25(8):1457-67. Epub 2016 Jan 19.

INSERM UMRS933, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, Paris 75012, France, Service de Pneumologie Pédiatrique, Hôpital Armand Trousseau, Assistance Publique Hôpitaux de Paris, Centre National de Référence des Maladies Respiratoires Rares RespiRare, Paris 75012, France.

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http://dx.doi.org/10.1093/hmg/ddw014DOI Listing
April 2016

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

Hum Mol Genet 2016 Feb 26;25(3):472-83. Epub 2015 Nov 26.

Inserm UMRS933, Hôpital Trousseau, Sorbonne Universités, UPMC Univ Paris, 26 Avenue du Dr Netter, Paris 75012, France, Service de Génétique et d'Embryologie Médicales, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddv486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007599PMC
February 2016

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

Am J Hum Genet 2015 Jul 11;97(1):153-62. Epub 2015 Jun 11.

INSERM UMR S933, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, Paris 75012, France; Service de Génétique et Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique - Hôpitaux de Paris, Paris 75012, France.

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http://dx.doi.org/10.1016/j.ajhg.2015.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571005PMC
July 2015

Characterization of SLC26A9 in patients with CF-like lung disease.

Hum Mutat 2013 Oct 13;34(10):1404-14. Epub 2013 Aug 13.

INSERM U 845, Paris, France; Faculté de Médecine, Université René Descartes, Paris V, Paris, France.

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http://dx.doi.org/10.1002/humu.22382DOI Listing
October 2013

The role of GHR and IGF1 genes in the genetic determination of African pygmies' short stature.

Eur J Hum Genet 2013 Jun 10;21(6):653-8. Epub 2012 Oct 10.

CNRS-MNHN-Université Paris 7, UMR 7206 Ecoanthropology and Ethnobiology, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2012.223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658195PMC
June 2013

Ciliary defects and genetics of primary ciliary dyskinesia.

Paediatr Respir Rev 2009 Jun 18;10(2):51-4. Epub 2009 Apr 18.

AP-HP, Service de Génétique et d'Embryologie médicales and Inserm U.933, Hôpital Armand-Trousseau, 26, avenue du Docteur Arnold-Netter, 75571 Paris Cedex 13, France.

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http://dx.doi.org/10.1016/j.prrv.2009.02.001DOI Listing
June 2009

Amyloidosis and auto-inflammatory syndromes.

Curr Drug Targets Inflamm Allergy 2005 Feb;4(1):57-65

Service de médecine interne, L'Hôtel-Dieu, Assistance publique-hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.2174/1568010053622786DOI Listing
February 2005

The tumor necrosis factor alpha-dependent activation of the human mediterranean fever (MEFV) promoter is mediated by a synergistic interaction between C/EBP beta and NF kappaB p65.

J Biol Chem 2003 Dec 26;278(49):48839-47. Epub 2003 Sep 26.

INSERM, Unit 468 and Unit 581, Hôpital Henri-Mondor, 51, Avenue du Maréchal de-Lattre-de-Tassigny, 94010 Créteil, France.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M305166200
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http://dx.doi.org/10.1074/jbc.M305166200DOI Listing
December 2003