Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 73

1.

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

Awad F, Assrawi E, Jumeau C, Georgin-Lavialle S, Cobret L, Duquesnoy P, Piterboth W, Thomas L, Stankovic-Stojanovic K, Louvrier C, Giurgea I, Grateau G, Amselem S, Karabina SA.

PLoS One. 2017 Apr 12;12(4):e0175336. doi: 10.1371/journal.pone.0175336. eCollection 2017.

2.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group, Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM.

Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279.

3.

Surfactant protein A: A key player in lung homeostasis.

Nathan N, Taytard J, Duquesnoy P, Thouvenin G, Corvol H, Amselem S, Clement A.

Int J Biochem Cell Biol. 2016 Dec;81(Pt A):151-155. doi: 10.1016/j.biocel.2016.11.003. Epub 2016 Nov 9. Review.

PMID:
27836807
4.

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, González Briceño L, Netchine I, Oliver-Petit I, Sobrier ML, Amselem S, Legendre M.

J Clin Endocrinol Metab. 2017 Jan 1;102(1):290-301. doi: 10.1210/jc.2016-3158.

PMID:
27820671
5.

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lorès P, Yuan L, Collot N, Tissier S, Faucon C, Gacon G, Patrat C, Wolf JP, Dulioust E, Crestani B, Escudier E, Coste A, Legendre M, Touré A, Amselem S.

Am J Hum Genet. 2016 Aug 4;99(2):489-500. doi: 10.1016/j.ajhg.2016.06.022.

6.

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Jeanson L, Thomas L, Copin B, Coste A, Sermet-Gaudelus I, Dastot-Le Moal F, Duquesnoy P, Montantin G, Collot N, Tissier S, Papon JF, Clement A, Louis B, Escudier E, Amselem S, Legendre M.

Hum Mutat. 2016 Aug;37(8):776-85. doi: 10.1002/humu.23005. Epub 2016 May 12.

PMID:
27120127
7.

Donor Dependent Variations in Hematopoietic Differentiation among Embryonic and Induced Pluripotent Stem Cell Lines.

Féraud O, Valogne Y, Melkus MW, Zhang Y, Oudrhiri N, Haddad R, Daury A, Rocher C, Larbi A, Duquesnoy P, Divers D, Gobbo E, Brunet de la Grange P, Louache F, Bennaceur-Griscelli A, Mitjavila-Garcia MT.

PLoS One. 2016 Mar 3;11(3):e0149291. doi: 10.1371/journal.pone.0149291. eCollection 2016.

8.

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

Nathan N, Giraud V, Picard C, Nunes H, Dastot-Le Moal F, Copin B, Galeron L, De Ligniville A, Kuziner N, Reynaud-Gaubert M, Valeyre D, Couderc LJ, Chinet T, Borie R, Crestani B, Simansour M, Nau V, Tissier S, Duquesnoy P, Mansour-Hendili L, Legendre M, Kannengiesser C, Coulomb-L'Hermine A, Gouya L, Amselem S, Clement A.

Hum Mol Genet. 2016 Apr 15;25(8):1457-67. doi: 10.1093/hmg/ddw014. Epub 2016 Jan 19.

PMID:
26792177
9.

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

Sobrier ML, Tsai YC, Pérez C, Leheup B, Bouceba T, Duquesnoy P, Copin B, Sizova D, Penzo A, Stanger BZ, Cooke NE, Liebhaber SA, Amselem S.

Hum Mol Genet. 2016 Feb 1;25(3):472-83. doi: 10.1093/hmg/ddv486. Epub 2015 Nov 26.

10.

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

Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M.

Am J Hum Genet. 2015 Jul 2;97(1):153-62. doi: 10.1016/j.ajhg.2015.05.004. Epub 2015 Jun 11.

11.

Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders.

Jéru I, Cochet E, Duquesnoy P, Hentgen V, Copin B, Mitjavila-Garcia MT, Sheykholeslami S, Le Borgne G, Dastot-Le Moal F, Malan V, Karabina S, Mahevas M, Chantot-Bastaraud S, Lecron JC, Faivre L, Amselem S.

Arthritis Rheumatol. 2014 Sep;66(9):2621-7. doi: 10.1002/art.38727.

12.

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

Bakouh N, Bienvenu T, Thomas A, Ehrenfeld J, Liote H, Roussel D, Duquesnoy P, Farman N, Viel M, Cherif-Zahar B, Amselem S, Taam RA, Edelman A, Planelles G, Sermet-Gaudelus I.

Hum Mutat. 2013 Oct;34(10):1404-14. doi: 10.1002/humu.22382. Epub 2013 Aug 13.

PMID:
24272871
13.

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S.

Am J Hum Genet. 2013 Sep 5;93(3):561-70. doi: 10.1016/j.ajhg.2013.07.013. Epub 2013 Aug 29.

14.

Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disorders.

Jéru I, Charmion S, Cochet E, Copin B, Duquesnoy P, Garcia MT, Le Borgne G, Cathebras P, Gaillat J, Karabina S, Dodé C, Lohse P, Hentgen V, Amselem S.

PLoS One. 2013 Jul 24;8(7):e69757. doi: 10.1371/journal.pone.0069757. Print 2013.

15.

The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach.

Jéru I, Hentgen V, Cochet E, Duquesnoy P, Le Borgne G, Grimprel E, Stojanovic KS, Karabina S, Grateau G, Amselem S.

PLoS One. 2013 Jul 3;8(7):e68431. doi: 10.1371/journal.pone.0068431. Print 2013.

16.

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Touré A, Escudier E, Amselem S.

Am J Hum Genet. 2012 Nov 2;91(5):958-64. doi: 10.1016/j.ajhg.2012.10.003.

17.

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

Becker NS, Verdu P, Georges M, Duquesnoy P, Froment A, Amselem S, Le Bouc Y, Heyer E.

Eur J Hum Genet. 2013 Jun;21(6):653-8. doi: 10.1038/ejhg.2012.223. Epub 2012 Oct 10.

18.

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.

Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S.

J Med Genet. 2012 Jun;49(6):410-6. doi: 10.1136/jmedgenet-2012-100867.

PMID:
22693285
19.

A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.

Mory A, Dagan E, Illi B, Duquesnoy P, Mordechai S, Shahor I, Romani S, Hawash-Moustafa N, Mandel H, Valente EM, Amselem S, Gershoni-Baruch R.

Am J Hum Genet. 2012 Apr 6;90(4):708-14. doi: 10.1016/j.ajhg.2012.03.005.

20.

Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.

Jéru I, Le Borgne G, Cochet E, Hayrapetyan H, Duquesnoy P, Grateau G, Morali A, Sarkisian T, Amselem S.

Arthritis Rheum. 2011 May;63(5):1459-64. doi: 10.1002/art.30241.

21.

Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy.

Jéru I, Hentgen V, Normand S, Duquesnoy P, Cochet E, Delwail A, Grateau G, Marlin S, Amselem S, Lecron JC.

Arthritis Rheum. 2011 Jul;63(7):2142-8. doi: 10.1002/art.30378.

22.

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Lequarré AS, Katsanis N, Omran H, Amselem S.

Nat Genet. 2011 Jan;43(1):72-8. doi: 10.1038/ng.726. Epub 2010 Dec 5.

23.

Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder.

Jéru I, Marlin S, Le Borgne G, Cochet E, Normand S, Duquesnoy P, Dastot-Le Moal F, Cuisset L, Hentgen V, Fernandes Alnemri T, Lecron JC, Dhote R, Grateau G, Alnemri ES, Amselem S.

Arthritis Rheum. 2010 Apr;62(4):1176-85. doi: 10.1002/art.27326.

24.

Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.

Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, Bastin P, Mitchell DR, Amselem S.

Am J Hum Genet. 2009 Dec;85(6):890-6. doi: 10.1016/j.ajhg.2009.11.008.

25.

Involvement of the modifier gene of a human Mendelian disorder in a negative selection process.

Jéru I, Hayrapetyan H, Duquesnoy P, Cochet E, Serre JL, Feingold J, Grateau G, Sarkisian T, Jeanpierre M, Amselem S.

PLoS One. 2009 Oct 30;4(10):e7676. doi: 10.1371/journal.pone.0007676.

26.

Ciliary defects and genetics of primary ciliary dyskinesia.

Escudier E, Duquesnoy P, Papon JF, Amselem S.

Paediatr Respir Rev. 2009 Jun;10(2):51-4. doi: 10.1016/j.prrv.2009.02.001. Epub 2009 Apr 18. Review.

27.

Mutations in NALP12 cause hereditary periodic fever syndromes.

Jéru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, Grimprel E, Landman-Parker J, Hentgen V, Marlin S, McElreavey K, Sarkisian T, Grateau G, Alnemri ES, Amselem S.

Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1614-9. doi: 10.1073/pnas.0708616105. Epub 2008 Jan 29.

28.

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia.

Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S.

Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3336-41. Epub 2007 Feb 20. Erratum in: Proc Natl Acad Sci U S A. 2007 Apr 10;104(15):6490.

29.

Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals.

Borensztajn K, Sobrier ML, Duquesnoy P, Fischer AM, Tapon-Bretaudière J, Amselem S.

PLoS Genet. 2006 Sep 1;2(9):e138. Epub 2006 Jul 20.

30.

PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation.

Jéru I, Hayrapetyan H, Duquesnoy P, Sarkisian T, Amselem S.

Arthritis Rheum. 2006 Feb;54(2):508-14.

31.

Interaction of pyrin with 14.3.3 in an isoform-specific and phosphorylation-dependent manner regulates its translocation to the nucleus.

Jéru I, Papin S, L'hoste S, Duquesnoy P, Cazeneuve C, Camonis J, Amselem S.

Arthritis Rheum. 2005 Jun;52(6):1848-57.

32.

Amyloidosis and auto-inflammatory syndromes.

Grateau G, Jéru I, Rouaghe S, Cazeneuve C, Ravet N, Duquesnoy P, Cuisset L, Dodé C, Delpech M, Amselem S.

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

PMID:
15720237
33.
34.
35.

Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

Machinis K, Pantel J, Netchine I, Léger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S.

Am J Hum Genet. 2001 Nov;69(5):961-8. Epub 2001 Sep 20.

36.

Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus.

Papin S, Duquesnoy P, Cazeneuve C, Pantel J, Coppey-Moisan M, Dargemont C, Amselem S.

Hum Mol Genet. 2000 Dec 12;9(20):3001-9.

PMID:
11115844
37.

Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.

Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Geneviève D, Mndjoyan E, Papazian M, Sarkisian A, Babloyan A, Boissier B, Duquesnoy P, Kouyoumdjian JC, Girodon-Boulandet E, Grateau G, Sarkisian T, Amselem S.

Am J Hum Genet. 2000 Nov;67(5):1136-43. Epub 2000 Oct 3.

38.

Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution.

Pantel J, Machinis K, Sobrier ML, Duquesnoy P, Goossens M, Amselem S.

J Biol Chem. 2000 Jun 23;275(25):18664-9.

39.

Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection.

Danan C, Sternberg D, Van Steirteghem A, Cazeneuve C, Duquesnoy P, Besmond C, Goossens M, Lissens W, Amselem S.

Am J Hum Genet. 1999 Aug;65(2):463-73.

40.

Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency.

Duquesnoy P, Roy A, Dastot F, Ghali I, Teinturier C, Netchine I, Cacheux V, Hafez M, Salah N, Chaussain JL, Goossens M, Bougnères P, Amselem S.

FEBS Lett. 1998 Oct 23;437(3):216-20.

41.

Changes in serum IGF-I and IGFBP-3 concentrations during the IGF-I generation test performed prospectively in children with short stature.

Cotterill AM, Camacho-Hübner C, Duquesnoy P, Savage MO.

Clin Endocrinol (Oxf). 1998 Jun;48(6):719-24.

PMID:
9713560
42.

Evolutionary divergence of the truncated growth hormone receptor isoform in its ability to generate a soluble growth hormone binding protein.

Dastot F, Duquesnoy P, Sobrier ML, Goossens M, Amselem S.

Mol Cell Endocrinol. 1998 Feb;137(1):79-84. Erratum in: Mol Cell Endocrinol 1998 Jun 25; 141(1-2):195.

PMID:
9607731
43.

A new c-kit mutation in a case of aggressive mast cell disease.

Pignon JM, Giraudier S, Duquesnoy P, Jouault H, Imbert M, Vainchenker W, Vernant JP, Tulliez M.

Br J Haematol. 1997 Feb;96(2):374-6.

PMID:
9029028
44.

Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.

Sobrier ML, Dastot F, Duquesnoy P, Kandemir N, Yordam N, Goossens M, Amselem S.

J Clin Endocrinol Metab. 1997 Feb;82(2):435-7.

PMID:
9024232
45.

Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein.

Dastot F, Sobrier ML, Duquesnoy P, Duriez B, Goossens M, Amselem S.

Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10723-8.

46.

Molecular basis of inherited growth hormone resistance in childhood.

Amselem S, Sobrier ML, Dastot F, Duquesnoy P, Duriez B, Goossens M.

Baillieres Clin Endocrinol Metab. 1996 Jul;10(3):353-69. Review.

PMID:
8853444
47.

Isolated growth hormone deficiency type IA associated with a 45-kilobase gene deletion within the human growth hormone gene cluster in an Italian family.

Ghizzoni L, Duquesnoy P, Torresani T, Vottero A, Goossens M, Bernasconi S.

Pediatr Res. 1994 Nov;36(5):654-9.

PMID:
7877887
48.

An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.

Duriez B, Duquesnoy P, Dastot F, Bougnères P, Amselem S, Goossens M.

FEBS Lett. 1994 Jun 13;346(2-3):165-70.

49.

The insulin-like growth factor I generation test in the investigation of short stature.

Cotterill AM, Camacho-Hübner C, Woods K, Martinelli C, Duquesnoy P, Savage MO.

Acta Paediatr Suppl. 1994 Apr;399:128-30.

PMID:
7949597
50.

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization.

Duquesnoy P, Sobrier ML, Duriez B, Dastot F, Buchanan CR, Savage MO, Preece MA, Craescu CT, Blouquit Y, Goossens M, et al.

EMBO J. 1994 Mar 15;13(6):1386-95.

Supplemental Content

Loading ...
Support Center