Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 38

1.

HIRA directly targets the enhancers of selected cardiac transcription factors during in vitro differentiation of mouse embryonic stem cells.

Saleh RNM, Dilg D, Abou Zeid AA, Hashad DI, Scambler PJ, Chapgier ALA.

Mol Biol Rep. 2018 Oct;45(5):1001-1011. doi: 10.1007/s11033-018-4247-z. Epub 2018 Jul 20.

2.

HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3.

Dilg D, Saleh RN, Phelps SE, Rose Y, Dupays L, Murphy C, Mohun T, Anderson RH, Scambler PJ, Chapgier AL.

PLoS One. 2016 Aug 12;11(8):e0161096. doi: 10.1371/journal.pone.0161096. eCollection 2016.

3.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.

Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL.

J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. Erratum in: J Med Genet. 2016 Oct 13;:.

4.

Hira-dependent histone H3.3 deposition facilitates PRC2 recruitment at developmental loci in ES cells.

Banaszynski LA, Wen D, Dewell S, Whitcomb SJ, Lin M, Diaz N, Elsässer SJ, Chapgier A, Goldberg AD, Canaani E, Rafii S, Zheng D, Allis CD.

Cell. 2013 Sep 26;155(1):107-20. doi: 10.1016/j.cell.2013.08.061.

5.

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.

Kong XF, Vogt G, Itan Y, Macura-Biegun A, Szaflarska A, Kowalczyk D, Chapgier A, Abhyankar A, Furthner D, Djambas Khayat C, Okada S, Bryant VL, Bogunovic D, Kreins A, Moncada-Vélez M, Migaud M, Al-Ajaji S, Al-Muhsen S, Holland SM, Abel L, Picard C, Chaussabel D, Bustamante J, Casanova JL, Boisson-Dupuis S.

Hum Mol Genet. 2013 Feb 15;22(4):769-81. doi: 10.1093/hmg/dds484. Epub 2012 Nov 16.

6.

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, Grant AV, Marchal CC, Hubeau M, Chapgier A, de Beaucoudrey L, Puel A, Feinberg J, Valinetz E, Jannière L, Besse C, Boland A, Brisseau JM, Blanche S, Lortholary O, Fieschi C, Emile JF, Boisson-Dupuis S, Al-Muhsen S, Woda B, Newburger PE, Condino-Neto A, Dinauer MC, Abel L, Casanova JL.

Nat Immunol. 2011 Mar;12(3):213-21. doi: 10.1038/ni.1992. Epub 2011 Jan 30.

7.

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

Sologuren I, Boisson-Dupuis S, Pestano J, Vincent QB, Fernández-Pérez L, Chapgier A, Cárdenes M, Feinberg J, García-Laorden MI, Picard C, Santiago E, Kong X, Jannière L, Colino E, Herrera-Ramos E, Francés A, Navarrete C, Blanche S, Faria E, Remiszewski P, Cordeiro A, Freeman A, Holland S, Abarca K, Valerón-Lemaur M, Gonçalo-Marques J, Silveira L, García-Castellano JM, Caminero J, Pérez-Arellano JL, Bustamante J, Abel L, Casanova JL, Rodríguez-Gallego C.

Hum Mol Genet. 2011 Apr 15;20(8):1509-23. doi: 10.1093/hmg/ddr029. Epub 2011 Jan 25.

8.

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PP, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Ozbek N, Aksu G, Keser M, Somer A, Hatipoglu N, Aydogmus C, Asilsoy S, Camcioglu Y, Gülle S, Ozgur TT, Ozen M, Oleastro M, Bernasconi A, Mamishi S, Parvaneh N, Rosenzweig S, Barbouche R, Pedraza S, Lau YL, Ehlayel MS, Fieschi C, Abel L, Sanal O, Casanova JL.

Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832.

9.

The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.

Averbuch D, Chapgier A, Boisson-Dupuis S, Casanova JL, Engelhard D.

Pediatr Infect Dis J. 2011 Apr;30(4):352-5. doi: 10.1097/INF.0b013e3181fdff4a.

PMID:
20962705
10.

Distinct factors control histone variant H3.3 localization at specific genomic regions.

Goldberg AD, Banaszynski LA, Noh KM, Lewis PW, Elsaesser SJ, Stadler S, Dewell S, Law M, Guo X, Li X, Wen D, Chapgier A, DeKelver RC, Miller JC, Lee YL, Boydston EA, Holmes MC, Gregory PD, Greally JM, Rafii S, Yang C, Scambler PJ, Garrick D, Gibbons RJ, Higgs DR, Cristea IM, Urnov FD, Zheng D, Allis CD.

Cell. 2010 Mar 5;140(5):678-91. doi: 10.1016/j.cell.2010.01.003.

11.

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.

Prando C, Boisson-Dupuis S, Grant AV, Kong XF, Bustamante J, Feinberg J, Chapgier A, Rose Y, Jannière L, Rizzardi E, Zhang Q, Shanahan CM, Viollet L, Lyonnet S, Abel L, Ruga EM, Casanova JL.

Am J Med Genet A. 2010 Mar;152A(3):622-9. doi: 10.1002/ajmg.a.33291. Review.

12.

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.

Kong XF, Vogt G, Chapgier A, Lamaze C, Bustamante J, Prando C, Fortin A, Puel A, Feinberg J, Zhang XX, Gonnord P, Pihkala-Saarinen UM, Arola M, Moilanen P, Abel L, Korppi M, Boisson-Dupuis S, Casanova JL.

Hum Mol Genet. 2010 Feb 1;19(3):434-44. doi: 10.1093/hmg/ddp507. Epub 2009 Oct 31.

13.

Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency.

Marazzi MG, Chapgier A, Defilippi AC, Pistoia V, Mangini S, Savioli C, Dell'Acqua A, Feinberg J, Tortoli E, Casanova JL.

Int J Infect Dis. 2010 Feb;14(2):e167-70. doi: 10.1016/j.ijid.2009.03.025. Epub 2009 Oct 31.

14.

Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency.

Moilanen P, Korppi M, Hovi L, Chapgier A, Feinberg J, Kong XF, Boisson-Dupuis S, Arola M, Casanova JL, Saarinen-Pihkala UM.

Pediatr Infect Dis J. 2009 Jul;28(7):658-60. doi: 10.1097/INF.0b013e318195092e.

PMID:
19451859
15.

A partial form of recessive STAT1 deficiency in humans.

Chapgier A, Kong XF, Boisson-Dupuis S, Jouanguy E, Averbuch D, Feinberg J, Zhang SY, Bustamante J, Vogt G, Lejeune J, Mayola E, de Beaucoudrey L, Abel L, Engelhard D, Casanova JL.

J Clin Invest. 2009 Jun;119(6):1502-14. doi: 10.1172/JCI37083. Epub 2009 May 11.

16.

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense.

Zhang SY, Boisson-Dupuis S, Chapgier A, Yang K, Bustamante J, Puel A, Picard C, Abel L, Jouanguy E, Casanova JL.

Immunol Rev. 2008 Dec;226:29-40. doi: 10.1111/j.1600-065X.2008.00698.x. Review.

PMID:
19161414
17.

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

Vogt G, Bustamante J, Chapgier A, Feinberg J, Boisson Dupuis S, Picard C, Mahlaoui N, Gineau L, Alcaïs A, Lamaze C, Puck JM, de Saint Basile G, Khayat CD, Mikhael R, Casanova JL.

J Exp Med. 2008 Aug 4;205(8):1729-37. doi: 10.1084/jem.20071987. Epub 2008 Jul 14.

18.

Infections due to various atypical mycobacteria in a Norwegian multiplex family with dominant interferon-gamma receptor deficiency.

Glosli H, Stray-Pedersen A, Brun AC, Holtmon LW, Tønjum T, Chapgier A, Casanova JL, Abrahamsen TG.

Clin Infect Dis. 2008 Feb 1;46(3):e23-7. doi: 10.1086/525855.

PMID:
18171304
19.

TLR3 deficiency in patients with herpes simplex encephalitis.

Zhang SY, Jouanguy E, Ugolini S, Smahi A, Elain G, Romero P, Segal D, Sancho-Shimizu V, Lorenzo L, Puel A, Picard C, Chapgier A, Plancoulaine S, Titeux M, Cognet C, von Bernuth H, Ku CL, Casrouge A, Zhang XX, Barreiro L, Leonard J, Hamilton C, Lebon P, Héron B, Vallée L, Quintana-Murci L, Hovnanian A, Rozenberg F, Vivier E, Geissmann F, Tardieu M, Abel L, Casanova JL.

Science. 2007 Sep 14;317(5844):1522-7.

20.

Human primary immunodeficiencies of type I interferons.

Jouanguy E, Zhang SY, Chapgier A, Sancho-Shimizu V, Puel A, Picard C, Boisson-Dupuis S, Abel L, Casanova JL.

Biochimie. 2007 Jun-Jul;89(6-7):878-83. Epub 2007 May 8. Review.

PMID:
17561326
21.

BCG-osis and tuberculosis in a child with chronic granulomatous disease.

Bustamante J, Aksu G, Vogt G, de Beaucoudrey L, Genel F, Chapgier A, Filipe-Santos O, Feinberg J, Emile JF, Kutukculer N, Casanova JL.

J Allergy Clin Immunol. 2007 Jul;120(1):32-8. Epub 2007 Jun 4.

PMID:
17544093
22.

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.

Bustamante J, Picard C, Fieschi C, Filipe-Santos O, Feinberg J, Perronne C, Chapgier A, de Beaucoudrey L, Vogt G, Sanlaville D, Lemainque A, Emile JF, Abel L, Casanova JL.

J Med Genet. 2007 Feb;44(2):e65.

23.

[Multifocal infection due to Mycobacterium intracellulare: first case of interferon gamma receptor partial dominant deficiency in tropical French territory].

Muszlak M, Chapgier A, Barry Harivelo R, Castella C, Crémades F, Goulois E, Laporte R, Casanova JL, Ranaivoarivony V, Hebert JC, Santiago J, Picard C.

Arch Pediatr. 2007 Mar;14(3):270-2. Epub 2007 Jan 12. French.

PMID:
17223023
24.

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.

Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de Beaucoudrey L, Feinberg J, Jouanguy E, Boisson-Dupuis S, Fieschi C, Picard C, Casanova JL.

Semin Immunol. 2006 Dec;18(6):347-61. Epub 2006 Sep 25. Review. Erratum in: Semin Immunol. 2007 Apr;19(2):136-7.

PMID:
16997570
25.

T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells.

Miro F, Nobile C, Blanchard N, Lind M, Filipe-Santos O, Fieschi C, Chapgier A, Vogt G, de Beaucoudrey L, Kumararatne DS, Le Deist F, Casanova JL, Amigorena S, Hivroz C.

J Immunol. 2006 Sep 15;177(6):3625-34.

26.

[Genetic predisposition and children infectious disease].

Picard C, Filipe-Santos O, Chapgier A, von Bernuth H, Vogt G, Casanova JL.

Arch Pediatr. 2006 Oct;13(10):1342-6. Epub 2006 Sep 1. Review. French. Erratum in: Arch Pediatr. 2006 Dec;13(12):1599-600.

PMID:
16949261
27.

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

Chapgier A, Boisson-Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka-Chalufour A, Casrouge A, Yang K, Soudais C, Fieschi C, Santos OF, Bustamante J, Picard C, de Beaucoudrey L, Emile JF, Arkwright PD, Schreiber RD, Rolinck-Werninghaus C, Rösen-Wolff A, Magdorf K, Roesler J, Casanova JL.

PLoS Genet. 2006 Aug 18;2(8):e131.

28.

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.

Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, Frucht DM, Christel K, von Bernuth H, Jouanguy E, Feinberg J, Durandy A, Senechal B, Chapgier A, Vogt G, de Beaucoudrey L, Fieschi C, Picard C, Garfa M, Chemli J, Bejaoui M, Tsolia MN, Kutukculer N, Plebani A, Notarangelo L, Bodemer C, Geissmann F, Israël A, Véron M, Knackstedt M, Barbouche R, Abel L, Magdorf K, Gendrel D, Agou F, Holland SM, Casanova JL.

J Exp Med. 2006 Jul 10;203(7):1745-59. Epub 2006 Jul 3.

29.

Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency.

Chantrain CF, Bruwier A, Brichard B, Largent V, Chapgier A, Feinberg J, Casanova JL, Stalens JP, Vermylen C.

Bone Marrow Transplant. 2006 Jul;38(1):75-6. Epub 2006 May 22. No abstract available.

PMID:
16715106
30.

[Gains of glycosylation mutations].

Vogt G, Chapgier A, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcaïs A, Abel L, Cooper DN, Casanova JL.

Med Sci (Paris). 2006 May;22(5):480-2. French. No abstract available.

31.

Disseminated nontuberculous mycobacterial infection in a child with interferon-gamma receptor 1 deficiency.

Tsolia MN, Chapgier A, Taprantzi P, Servitzoglou M, Tassios I, Spyridis N, Papageorgiou F, Santos OF, Casanova JL, Spyridis P.

Eur J Pediatr. 2006 Jul;165(7):458-61. Epub 2006 Apr 7.

PMID:
16602008
32.

Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo.

Chapgier A, Wynn RF, Jouanguy E, Filipe-Santos O, Zhang S, Feinberg J, Hawkins K, Casanova JL, Arkwright PD.

J Immunol. 2006 Apr 15;176(8):5078-83.

33.

Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency.

Remiszewski P, Roszkowska-Sliz B, Winek J, Chapgier A, Feinberg J, Langfort R, Bestry I, Augustynowicz-Kopeć E, Ptak J, Casanova JL, Rowińska-Zakrzewska E.

Respiration. 2006;73(3):375-8. Epub 2005 Sep 29.

PMID:
16195661
34.

Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection.

Mansouri D, Adimi P, Mirsaeidi M, Mansouri N, Khalilzadeh S, Masjedi MR, Adimi P, Tabarsi P, Naderi M, Filipe-Santos O, Vogt G, de Beaucoudrey L, Bustamante J, Chapgier A, Feinberg J, Velayati AA, Casanova JL.

Eur J Pediatr. 2005 Dec;164(12):753-7. Epub 2005 Aug 10.

PMID:
16091917
35.

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL.

Nat Genet. 2005 Jul;37(7):692-700. Epub 2005 May 29.

PMID:
15924140
36.

Autosomal-dominant primary immunodeficiencies.

Lawrence T, Puel A, Reichenbach J, Ku CL, Chapgier A, Renner E, Minard-Colin V, Ouachée M, Casanova JL.

Curr Opin Hematol. 2005 Jan;12(1):22-30. Review.

PMID:
15604887
37.

Bacillus Calmette Guerin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes.

Feinberg J, Fieschi C, Doffinger R, Feinberg M, Leclerc T, Boisson-Dupuis S, Picard C, Bustamante J, Chapgier A, Filipe-Santos O, Ku CL, de Beaucoudrey L, Reichenbach J, Antoni G, Baldé R, Alcaïs A, Casanova JL.

Eur J Immunol. 2004 Nov;34(11):3276-84.

38.

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.

Dupuis S, Jouanguy E, Al-Hajjar S, Fieschi C, Al-Mohsen IZ, Al-Jumaah S, Yang K, Chapgier A, Eidenschenk C, Eid P, Al Ghonaium A, Tufenkeji H, Frayha H, Al-Gazlan S, Al-Rayes H, Schreiber RD, Gresser I, Casanova JL.

Nat Genet. 2003 Mar;33(3):388-91. Epub 2003 Feb 18.

PMID:
12590259

Supplemental Content

Loading ...
Support Center