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Results: 1 to 20 of 21

1.

Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.

Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen C, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, Zeng L, Wang X, Jiang H, Liu W, Han T, Liu D, Ma T, Wang B, Liu M, Liu JY, Wang QK, Yalnizoglu D, Radoshevich L, Uzé G, Gros P, Rozenberg F, Zhang SY, Jouanguy E, Bustamante J, García-Sastre A, Abel L, Lebon P, Notarangelo LD, Crow YJ, Boisson-Dupuis S, Casanova JL, Pellegrini S.

Nature. 2015 Feb 11. doi: 10.1038/nature14271. [Epub ahead of print] No abstract available.

PMID:
25686611
[PubMed - as supplied by publisher]
2.

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity.

Torres JM, Martinez-Barricarte R, García-Gómez S, Mazariegos MS, Itan Y, Boisson B, Rholvarez R, Jiménez-Reinoso A, del Pino L, Rodríguez-Pena R, Ferreira A, Hernández-Jiménez E, Toledano V, Cubillos-Zapata C, Díaz-Almirón M, López-Collazo E, Unzueta-Roch JL, Sánchez-Ramón S, Regueiro JR, López-Granados E, Casanova JL, Pérez de Diego R.

J Clin Invest. 2014 Dec;124(12):5239-48. doi: 10.1172/JCI77493. Epub 2014 Nov 3.

PMID:
25365219
[PubMed - in process]
3.

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.

Lim HK, Seppänen M, Hautala T, Ciancanelli MJ, Itan Y, Lafaille FG, Dell W, Lorenzo L, Byun M, Pauwels E, Rönnelid Y, Cai X, Boucherit S, Jouanguy E, Paetau A, Lebon P, Rozenberg F, Tardieu M, Abel L, Yildiran A, Vergison A, Roivainen R, Etzioni A, Tienari PJ, Casanova JL, Zhang SY.

Neurology. 2014 Nov 18;83(21):1888-97. doi: 10.1212/WNL.0000000000000999. Epub 2014 Oct 22.

PMID:
25339207
[PubMed - indexed for MEDLINE]
4.

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.

Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen C, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, Zeng L, Wang X, Jiang H, Liu W, Han T, Liu D, Ma T, Wang B, Liu M, Liu JY, Wang QK, Yalnizoglu D, Radoshevich L, Uzé G, Gros P, Rozenberg F, Zhang SY, Jouanguy E, Bustamante J, García-Sastre A, Abel L, Lebon P, Notarangelo LD, Crow YJ, Boisson-Dupuis S, Casanova JL, Pellegrini S.

Nature. 2015 Jan 1;517(7532):89-93. doi: 10.1038/nature13801. Epub 2014 Oct 12.

PMID:
25307056
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.

Martínez-Barricarte R, Megged O, Stepensky P, Casimir P, Moncada-Velez M, Averbuch D, Assous MV, Abuzaitoun O, Kong XF, Pedergnana V, Deswarte C, Migaud M, Rose-John S, Itan Y, Boisson B, Belkadi A, Conti F, Abel L, Vogt G, Boisson-Dupuis S, Casanova JL, Bustamante J.

J Clin Immunol. 2014 Nov;34(8):904-9. doi: 10.1007/s10875-014-0085-5. Epub 2014 Aug 19.

PMID:
25135595
[PubMed - in process]
6.

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.

Itan Y, Mazel M, Mazel B, Abhyankar A, Nitschke P, Quintana-Murci L, Boisson-Dupuis S, Boisson B, Abel L, Zhang SY, Casanova JL.

BMC Genomics. 2014 Apr 3;15:256. doi: 10.1186/1471-2164-15-256.

PMID:
24694260
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Defining risk groups to yellow fever vaccine-associated viscerotropic disease in the absence of denominator data.

Seligman SJ, Cohen JE, Itan Y, Casanova JL, Pezzullo JC.

Am J Trop Med Hyg. 2014 Feb;90(2):267-71. doi: 10.4269/ajtmh.13-0542. Epub 2014 Jan 6.

PMID:
24394480
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.

Moncada-Vélez M, Martinez-Barricarte R, Bogunovic D, Kong XF, Blancas-Galicia L, Tirpan C, Aksu G, Vincent QB, Boisson B, Itan Y, Ramírez-Alejo N, Okada S, Kreins AY, Bryant VL, Franco JL, Migaud M, Espinosa-Padilla S, Yamazaki-Nakashimada M, Espinosa-Rosales F, Kutukculer N, Abel L, Bustamante J, Vogt G, Casanova JL, Boisson-Dupuis S.

Blood. 2013 Oct 3;122(14):2390-401. doi: 10.1182/blood-2013-01-480814. Epub 2013 Aug 20. Erratum in: Blood. 2014 Mar 6;123(10):1622.

PMID:
23963039
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN, Williams AP, Baretto R, Duddridge M, Kini U, Pollard AJ, Gaud C, Frange P, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, Conley ME, Selleri L, Casanova JL.

Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11.

PMID:
23579497
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The human gene connectome as a map of short cuts for morbid allele discovery.

Itan Y, Zhang SY, Vogt G, Abhyankar A, Herman M, Nitschke P, Fried D, Quintana-Murci L, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5558-63. doi: 10.1073/pnas.1218167110. Epub 2013 Mar 18.

PMID:
23509278
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

Kong XF, Bousfiha A, Rouissi A, Itan Y, Abhyankar A, Bryant V, Okada S, Ailal F, Bustamante J, Casanova JL, Hirst J, Boisson-Dupuis S.

PLoS One. 2013;8(3):e58286. doi: 10.1371/journal.pone.0058286. Epub 2013 Mar 5.

PMID:
23472171
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Modeling recent human evolution in mice by expression of a selected EDAR variant.

Kamberov YG, Wang S, Tan J, Gerbault P, Wark A, Tan L, Yang Y, Li S, Tang K, Chen H, Powell A, Itan Y, Fuller D, Lohmueller J, Mao J, Schachar A, Paymer M, Hostetter E, Byrne E, Burnett M, McMahon AP, Thomas MG, Lieberman DE, Jin L, Tabin CJ, Morgan BA, Sabeti PC.

Cell. 2013 Feb 14;152(4):691-702. doi: 10.1016/j.cell.2013.01.016.

PMID:
23415220
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
23161749
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Evolutionary genetic dissection of human interferons.

Manry J, Laval G, Patin E, Fornarino S, Itan Y, Fumagalli M, Sironi M, Tichit M, Bouchier C, Casanova JL, Barreiro LB, Quintana-Murci L.

J Exp Med. 2011 Dec 19;208(13):2747-59. doi: 10.1084/jem.20111680. Epub 2011 Dec 12.

PMID:
22162829
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Herders of Indian and European cattle share their predominant allele for lactase persistence.

Gallego Romero I, Basu Mallick C, Liebert A, Crivellaro F, Chaubey G, Itan Y, Metspalu M, Eaaswarkhanth M, Pitchappan R, Villems R, Reich D, Singh L, Thangaraj K, Thomas MG, Swallow DM, Mirazón Lahr M, Kivisild T.

Mol Biol Evol. 2012 Jan;29(1):249-60. doi: 10.1093/molbev/msr190. Epub 2011 Aug 11.

PMID:
21836184
[PubMed - indexed for MEDLINE]
Free Article
16.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulácsy V, Chernyshova L, Chernyshov V, Bondarenko A, Grimaldo RM, Blancas-Galicia L, Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bué M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Maródi L, Boisson-Dupuis S, Puel A, Casanova JL.

J Exp Med. 2011 Aug 1;208(8):1635-48. doi: 10.1084/jem.20110958. Epub 2011 Jul 4.

PMID:
21727188
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Evolution of lactase persistence: an example of human niche construction.

Gerbault P, Liebert A, Itan Y, Powell A, Currat M, Burger J, Swallow DM, Thomas MG.

Philos Trans R Soc Lond B Biol Sci. 2011 Mar 27;366(1566):863-77. doi: 10.1098/rstb.2010.0268.

PMID:
21320900
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Detecting gene duplications in the human lineage.

Itan Y, Bryson K, Thomas MG.

Ann Hum Genet. 2010 Nov;74(6):555-65. doi: 10.1111/j.1469-1809.2010.00609.x.

PMID:
20946257
[PubMed - indexed for MEDLINE]
19.

A worldwide correlation of lactase persistence phenotype and genotypes.

Itan Y, Jones BL, Ingram CJ, Swallow DM, Thomas MG.

BMC Evol Biol. 2010 Feb 9;10:36. doi: 10.1186/1471-2148-10-36.

PMID:
20144208
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

The origins of lactase persistence in Europe.

Itan Y, Powell A, Beaumont MA, Burger J, Thomas MG.

PLoS Comput Biol. 2009 Aug;5(8):e1000491. doi: 10.1371/journal.pcbi.1000491. Epub 2009 Aug 28.

PMID:
19714206
[PubMed - indexed for MEDLINE]
Free PMC Article
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