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Items: 1 to 50 of 58

1.

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A.

Hum Mol Genet. 2018 Jan 24. doi: 10.1093/hmg/ddy037. [Epub ahead of print]

PMID:
29373757
2.

Strategies to Improve Vaccine Efficacy against Tuberculosis by Targeting Innate Immunity.

Schaible UE, Linnemann L, Redinger N, Patin EC, Dallenga T.

Front Immunol. 2017 Dec 11;8:1755. doi: 10.3389/fimmu.2017.01755. eCollection 2017. Review.

3.

Distinctive roles of age, sex, and genetics in shaping transcriptional variation of human immune responses to microbial challenges.

Piasecka B, Duffy D, Urrutia A, Quach H, Patin E, Posseme C, Bergstedt J, Charbit B, Rouilly V, MacPherson CR, Hasan M, Albaud B, Gentien D, Fellay J, Albert ML, Quintana-Murci L; Milieu Intérieur Consortium.

Proc Natl Acad Sci U S A. 2018 Jan 16;115(3):E488-E497. doi: 10.1073/pnas.1714765115. Epub 2017 Dec 27.

4.

The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan.

Laso-Jadart R, Harmant C, Quach H, Zidane N, Tyler-Smith C, Mehdi Q, Ayub Q, Quintana-Murci L, Patin E.

Am J Hum Genet. 2017 Dec 7;101(6):977-984. doi: 10.1016/j.ajhg.2017.09.025. Epub 2017 Nov 9.

PMID:
29129317
5.

Type I IFN Receptor Signaling Controls IL7-Dependent Accumulation and Activity of Protumoral IL17A-Producing γδT Cells in Breast Cancer.

Patin EC, Soulard D, Fleury S, Hassane M, Dombrowicz D, Faveeuw C, Trottein F, Paget C.

Cancer Res. 2018 Jan 1;78(1):195-204. doi: 10.1158/0008-5472.CAN-17-1416. Epub 2017 Oct 25.

PMID:
29070614
6.

Macrophage Inducible C-Type Lectin As a Multifunctional Player in Immunity.

Patin EC, Orr SJ, Schaible UE.

Front Immunol. 2017 Jul 25;8:861. doi: 10.3389/fimmu.2017.00861. eCollection 2017. Review.

7.

Trends in DNA Methylation with Age Replicate Across Diverse Human Populations.

Gopalan S, Carja O, Fagny M, Patin E, Myrick JW, McEwen LM, Mah SM, Kobor MS, Froment A, Feldman MW, Quintana-Murci L, Henn BM.

Genetics. 2017 Jul;206(3):1659-1674. doi: 10.1534/genetics.116.195594. Epub 2017 May 22.

PMID:
28533441
8.

Dispersals and genetic adaptation of Bantu-speaking populations in Africa and North America.

Patin E, Lopez M, Grollemund R, Verdu P, Harmant C, Quach H, Laval G, Perry GH, Barreiro LB, Froment A, Heyer E, Massougbodji A, Fortes-Lima C, Migot-Nabias F, Bellis G, Dugoujon JM, Pereira JB, Fernandes V, Pereira L, Van der Veen L, Mouguiama-Daouda P, Bustamante CD, Hombert JM, Quintana-Murci L.

Science. 2017 May 5;356(6337):543-546. doi: 10.1126/science.aal1988.

PMID:
28473590
9.

Trehalose dimycolate interferes with FcγR-mediated phagosome maturation through Mincle, SHP-1 and FcγRIIB signalling.

Patin EC, Geffken AC, Willcocks S, Leschczyk C, Haas A, Nimmerjahn F, Lang R, Ward TH, Schaible UE.

PLoS One. 2017 Apr 6;12(4):e0174973. doi: 10.1371/journal.pone.0174973. eCollection 2017.

10.

Neutrophilic NLRP3 inflammasome-dependent IL-1β secretion regulates the γδT17 cell response in respiratory bacterial infections.

Hassane M, Demon D, Soulard D, Fontaine J, Keller LE, Patin EC, Porte R, Prinz I, Ryffel B, Kadioglu A, Veening JW, Sirard JC, Faveeuw C, Lamkanfi M, Trottein F, Paget C.

Mucosal Immunol. 2017 Jul;10(4):1056-1068. doi: 10.1038/mi.2016.113. Epub 2017 Jan 4.

PMID:
28051086
11.

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

Wang Y, Ma CS, Ling Y, Bousfiha A, Camcioglu Y, Jacquot S, Payne K, Crestani E, Roncagalli R, Belkadi A, Kerner G, Lorenzo L, Deswarte C, Chrabieh M, Patin E, Vincent QB, Müller-Fleckenstein I, Fleckenstein B, Ailal F, Quintana-Murci L, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Puel A, Bustamante J, Boisson-Dupuis S, Malissen M, Malissen B, Abel L, Hovnanian A, Notarangelo LD, Jouanguy E, Tangye SG, Béziat V, Casanova JL.

J Exp Med. 2016 Oct 17;213(11):2413-2435. Epub 2016 Sep 19.

12.

Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations.

Quach H, Rotival M, Pothlichet J, Loh YE, Dannemann M, Zidane N, Laval G, Patin E, Harmant C, Lopez M, Deschamps M, Naffakh N, Duffy D, Coen A, Leroux-Roels G, Clément F, Boland A, Deleuze JF, Kelso J, Albert ML, Quintana-Murci L.

Cell. 2016 Oct 20;167(3):643-656.e17. doi: 10.1016/j.cell.2016.09.024.

13.

IL-27 Induced by Select Candida spp. via TLR7/NOD2 Signaling and IFN-β Production Inhibits Fungal Clearance.

Patin EC, Jones AV, Thompson A, Clement M, Liao CT, Griffiths JS, Wallace LE, Bryant CE, Lang R, Rosenstiel P, Humphreys IR, Taylor PR, Jones GW, Orr SJ.

J Immunol. 2016 Jul 1;197(1):208-21. doi: 10.4049/jimmunol.1501204. Epub 2016 Jun 3.

14.

Mincle-mediated anti-inflammatory IL-10 response counter-regulates IL-12 in vitro.

Patin EC, Willcocks S, Orr S, Ward TH, Lang R, Schaible UE.

Innate Immun. 2016 Apr;22(3):181-5. doi: 10.1177/1753425916636671. Epub 2016 Mar 2.

15.

Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes.

Deschamps M, Laval G, Fagny M, Itan Y, Abel L, Casanova JL, Patin E, Quintana-Murci L.

Am J Hum Genet. 2016 Jan 7;98(1):5-21. doi: 10.1016/j.ajhg.2015.11.014.

16.

The epigenomic landscape of African rainforest hunter-gatherers and farmers.

Fagny M, Patin E, MacIsaac JL, Rotival M, Flutre T, Jones MJ, Siddle KJ, Quach H, Harmant C, McEwen LM, Froment A, Heyer E, Gessain A, Betsem E, Mouguiama-Daouda P, Hombert JM, Perry GH, Barreiro LB, Kobor MS, Quintana-Murci L.

Nat Commun. 2015 Nov 30;6:10047. doi: 10.1038/ncomms10047.

17.

Extensive Admixture and Selective Pressure Across the Sahel Belt.

Triska P, Soares P, Patin E, Fernandes V, Cerny V, Pereira L.

Genome Biol Evol. 2015 Nov 26;7(12):3484-95. doi: 10.1093/gbe/evv236.

18.

The human gene damage index as a gene-level approach to prioritizing exome variants.

Itan Y, Shang L, Boisson B, Patin E, Bolze A, Moncada-Vélez M, Scott E, Ciancanelli MJ, Lafaille FG, Markle JG, Martinez-Barricarte R, de Jong SJ, Kong XF, Nitschke P, Belkadi A, Bustamante J, Puel A, Boisson-Dupuis S, Stenson PD, Gleeson JG, Cooper DN, Quintana-Murci L, Claverie JM, Zhang SY, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):13615-20. doi: 10.1073/pnas.1518646112. Epub 2015 Oct 19.

19.

Isolation of bead phagosomes to study virulence function of M. tuberculosis cell wall lipids.

Geffken AC, Patin EC, Schaible UE.

Methods Mol Biol. 2015;1285:357-68. doi: 10.1007/978-1-4939-2450-9_22.

PMID:
25779328
20.

Automated flow cytometric analysis across large numbers of samples and cell types.

Chen X, Hasan M, Libri V, Urrutia A, Beitz B, Rouilly V, Duffy D, Patin É, Chalmond B, Rogge L, Quintana-Murci L, Albert ML, Schwikowski B; Milieu Intérieur Consortium.

Clin Immunol. 2015 Apr;157(2):249-60. doi: 10.1016/j.clim.2014.12.009. Epub 2015 Jan 7.

21.

The Milieu Intérieur study - an integrative approach for study of human immunological variance.

Thomas S, Rouilly V, Patin E, Alanio C, Dubois A, Delval C, Marquier LG, Fauchoux N, Sayegrih S, Vray M, Duffy D, Quintana-Murci L, Albert ML; Milieu Intérieur Consortium.

Clin Immunol. 2015 Apr;157(2):277-93. doi: 10.1016/j.clim.2014.12.004. Epub 2015 Jan 3.

22.

Impact of common risk factors of fibrosis progression in chronic hepatitis C.

Rüeger S, Bochud PY, Dufour JF, Müllhaupt B, Semela D, Heim MH, Moradpour D, Cerny A, Malinverni R, Booth DR, Suppiah V, George J, Argiro L, Halfon P, Bourlière M, Talal AH, Jacobson IM, Patin E, Nalpas B, Poynard T, Pol S, Abel L, Kutalik Z, Negro F.

Gut. 2015 Oct;64(10):1605-15. doi: 10.1136/gutjnl-2014-306997. Epub 2014 Sep 11.

PMID:
25214320
23.

Adaptive, convergent origins of the pygmy phenotype in African rainforest hunter-gatherers.

Perry GH, Foll M, Grenier JC, Patin E, Nédélec Y, Pacis A, Barakatt M, Gravel S, Zhou X, Nsobya SL, Excoffier L, Quintana-Murci L, Dominy NJ, Barreiro LB.

Proc Natl Acad Sci U S A. 2014 Sep 2;111(35):E3596-603. doi: 10.1073/pnas.1402875111. Epub 2014 Aug 18.

24.

Biochemical and antiparasitic properties of inhibitors of the Plasmodium falciparum calcium-dependent protein kinase PfCDPK1.

Ansell KH, Jones HM, Whalley D, Hearn A, Taylor DL, Patin EC, Chapman TM, Osborne SA, Wallace C, Birchall K, Large J, Bouloc N, Smiljanic-Hurley E, Clough B, Moon RW, Green JL, Holder AA.

Antimicrob Agents Chemother. 2014 Oct;58(10):6032-43. doi: 10.1128/AAC.02959-14. Epub 2014 Jul 28.

25.

Exploring the occurrence of classic selective sweeps in humans using whole-genome sequencing data sets.

Fagny M, Patin E, Enard D, Barreiro LB, Quintana-Murci L, Laval G.

Mol Biol Evol. 2014 Jul;31(7):1850-68. doi: 10.1093/molbev/msu118. Epub 2014 Apr 1.

PMID:
24694833
26.

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

Huguet G, Nava C, Lemière N, Patin E, Laval G, Ey E, Brice A, Leboyer M, Szepetowski P, Gillberg C, Depienne C, Delorme R, Bourgeron T.

PLoS One. 2014 Mar 3;9(3):e88600. doi: 10.1371/journal.pone.0088600. eCollection 2014. Erratum in: PLoS One. 2014;9(6):e100607.

27.

The impact of agricultural emergence on the genetic history of African rainforest hunter-gatherers and agriculturalists.

Patin E, Siddle KJ, Laval G, Quach H, Harmant C, Becker N, Froment A, Régnault B, Lemée L, Gravel S, Hombert JM, Van der Veen L, Dominy NJ, Perry GH, Barreiro LB, Verdu P, Heyer E, Quintana-Murci L.

Nat Commun. 2014;5:3163. doi: 10.1038/ncomms4163.

PMID:
24495941
28.

A genomic portrait of the genetic architecture and regulatory impact of microRNA expression in response to infection.

Siddle KJ, Deschamps M, Tailleux L, Nédélec Y, Pothlichet J, Lugo-Villarino G, Libri V, Gicquel B, Neyrolles O, Laval G, Patin E, Barreiro LB, Quintana-Murci L.

Genome Res. 2014 May;24(5):850-9. doi: 10.1101/gr.161471.113. Epub 2014 Jan 30.

29.

A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.

Ben-Mustapha I, Ben-Ali M, Mekki N, Patin E, Harmant C, Bouguila J, Elloumi-Zghal H, Harbi A, Béjaoui M, Boughammoura L, Chemli J, Barbouche MR.

Immunogenetics. 2014 Jan;66(1):67-71. doi: 10.1007/s00251-013-0739-0. Epub 2013 Oct 15.

PMID:
24127073
30.

Human genetic data reveal contrasting demographic patterns between sedentary and nomadic populations that predate the emergence of farming.

Aimé C, Laval G, Patin E, Verdu P, Ségurel L, Chaix R, Hegay T, Quintana-Murci L, Heyer E, Austerlitz F.

Mol Biol Evol. 2013 Dec;30(12):2629-44. doi: 10.1093/molbev/mst156. Epub 2013 Sep 24.

PMID:
24063884
31.

Different selective pressures shape the evolution of Toll-like receptors in human and African great ape populations.

Quach H, Wilson D, Laval G, Patin E, Manry J, Guibert J, Barreiro LB, Nerrienet E, Verschoor E, Gessain A, Przeworski M, Quintana-Murci L.

Hum Mol Genet. 2013 Dec 1;22(23):4829-40. doi: 10.1093/hmg/ddt335. Epub 2013 Jul 12.

32.

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.

33.

Positive selection in the chromosome 16 VKORC1 genomic region has contributed to the variability of anticoagulant response in humans.

Patillon B, Luisi P, Blanché H, Patin E, Cann HM, Génin E, Sabbagh A.

PLoS One. 2012;7(12):e53049. doi: 10.1371/journal.pone.0053049. Epub 2012 Dec 28.

34.

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections.

Crequer A, Picard C, Patin E, D'Amico A, Abhyankar A, Munzer M, Debré M, Zhang SY, de Saint-Basile G, Fischer A, Abel L, Orth G, Casanova JL, Jouanguy E.

PLoS One. 2012;7(8):e44010. doi: 10.1371/journal.pone.0044010. Epub 2012 Aug 27.

35.

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.

Crequer A, Troeger A, Patin E, Ma CS, Picard C, Pedergnana V, Fieschi C, Lim A, Abhyankar A, Gineau L, Mueller-Fleckenstein I, Schmidt M, Taieb A, Krueger J, Abel L, Tangye SG, Orth G, Williams DA, Casanova JL, Jouanguy E.

J Clin Invest. 2012 Sep;122(9):3239-47. doi: 10.1172/JCI62949. Epub 2012 Aug 1.

36.

Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.

Patin E, Kutalik Z, Guergnon J, Bibert S, Nalpas B, Jouanguy E, Munteanu M, Bousquet L, Argiro L, Halfon P, Boland A, Müllhaupt B, Semela D, Dufour JF, Heim MH, Moradpour D, Cerny A, Malinverni R, Hirsch H, Martinetti G, Suppiah V, Stewart G, Booth DR, George J, Casanova JL, Bréchot C, Rice CM, Talal AH, Jacobson IM, Bourlière M, Theodorou I, Poynard T, Negro F, Pol S, Bochud PY, Abel L; Swiss Hepatitis C Cohort Study Group; International Hepatitis C Genetics Consortium; French ANRS HC EP 26 Genoscan Study Group.

Gastroenterology. 2012 Nov;143(5):1244-52.e1-12. doi: 10.1053/j.gastro.2012.07.097. Epub 2012 Jul 27.

37.

The evolutionary landscape of cytosolic microbial sensors in humans.

Vasseur E, Boniotto M, Patin E, Laval G, Quach H, Manry J, Crouau-Roy B, Quintana-Murci L.

Am J Hum Genet. 2012 Jul 13;91(1):27-37. doi: 10.1016/j.ajhg.2012.05.008. Epub 2012 Jun 28.

38.

IL28B alleles associated with poor hepatitis C virus (HCV) clearance protect against inflammation and fibrosis in patients infected with non-1 HCV genotypes.

Bochud PY, Bibert S, Kutalik Z, Patin E, Guergnon J, Nalpas B, Goossens N, Kuske L, Müllhaupt B, Gerlach T, Heim MH, Moradpour D, Cerny A, Malinverni R, Regenass S, Dollenmaier G, Hirsch H, Martinetti G, Gorgiewski M, Bourlière M, Poynard T, Theodorou I, Abel L, Pol S, Dufour JF, Negro F; Swiss Hepatitis C Cohort Study Group; ANRS HC EP 26 Genoscan Study Group.

Hepatology. 2012 Feb;55(2):384-94. doi: 10.1002/hep.24678. Epub 2011 Dec 16.

PMID:
22180014
39.

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.

40.

The selective footprints of viral pressures at the human RIG-I-like receptor family.

Vasseur E, Patin E, Laval G, Pajon S, Fornarino S, Crouau-Roy B, Quintana-Murci L.

Hum Mol Genet. 2011 Nov 15;20(22):4462-74. doi: 10.1093/hmg/ddr377. Epub 2011 Aug 24.

PMID:
21865300
41.

Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity.

Manry J, Laval G, Patin E, Fornarino S, Tichit M, Bouchier C, Barreiro LB, Quintana-Murci L.

Hum Mutat. 2011 Jun;32(6):633-42. doi: 10.1002/humu.21484. Epub 2011 Mar 29.

PMID:
21448974
42.

Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection.

Nalpas B, Lavialle-Meziani R, Plancoulaine S, Jouanguy E, Nalpas A, Munteanu M, Charlotte F, Ranque B, Patin E, Heath S, Fontaine H, Vallet-Pichard A, Pontoire D, Bourlière M, Casanova JL, Lathrop M, Bréchot C, Poynard T, Matsuda F, Pol S, Abel L.

Gut. 2010 Aug;59(8):1120-6. doi: 10.1136/gut.2009.202267. Epub 2010 Jun 29.

PMID:
20587546
43.

Formulating a historical and demographic model of recent human evolution based on resequencing data from noncoding regions.

Laval G, Patin E, Barreiro LB, Quintana-Murci L.

PLoS One. 2010 Apr 22;5(4):e10284. doi: 10.1371/journal.pone.0010284.

44.

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.

Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, Pirkevi C, Hamadouche T, Cazeneuve C, Basak AN, Hattori N, Dürr A, Tazir M, Orr-Urtreger A, Quintana-Murci L, Brice A; French Parkinson's Disease Genetics Study Group.

Hum Mol Genet. 2010 May 15;19(10):1998-2004. doi: 10.1093/hmg/ddq081. Epub 2010 Mar 2.

PMID:
20197411
45.

Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians.

Louicharoen C, Patin E, Paul R, Nuchprayoon I, Witoonpanich B, Peerapittayamongkol C, Casademont I, Sura T, Laird NM, Singhasivanon P, Quintana-Murci L, Sakuntabhai A.

Science. 2009 Dec 11;326(5959):1546-9. doi: 10.1126/science.1178849.

46.

Evolutionary trajectories of primate genes involved in HIV pathogenesis.

Ortiz M, Guex N, Patin E, Martin O, Xenarios I, Ciuffi A, Quintana-Murci L, Telenti A.

Mol Biol Evol. 2009 Dec;26(12):2865-75. doi: 10.1093/molbev/msp197. Epub 2009 Sep 2.

PMID:
19726537
47.

Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense.

Barreiro LB, Ben-Ali M, Quach H, Laval G, Patin E, Pickrell JK, Bouchier C, Tichit M, Neyrolles O, Gicquel B, Kidd JR, Kidd KK, Alcaïs A, Ragimbeau J, Pellegrini S, Abel L, Casanova JL, Quintana-Murci L.

PLoS Genet. 2009 Jul;5(7):e1000562. doi: 10.1371/journal.pgen.1000562. Epub 2009 Jul 17.

48.

Inferring the demographic history of African farmers and pygmy hunter-gatherers using a multilocus resequencing data set.

Patin E, Laval G, Barreiro LB, Salas A, Semino O, Santachiara-Benerecetti S, Kidd KK, Kidd JR, Van der Veen L, Hombert JM, Gessain A, Froment A, Bahuchet S, Heyer E, Quintana-Murci L.

PLoS Genet. 2009 Apr;5(4):e1000448. doi: 10.1371/journal.pgen.1000448. Epub 2009 Apr 10.

49.

Signatures of purifying and local positive selection in human miRNAs.

Quach H, Barreiro LB, Laval G, Zidane N, Patin E, Kidd KK, Kidd JR, Bouchier C, Veuille M, Antoniewski C, Quintana-Murci L.

Am J Hum Genet. 2009 Mar;84(3):316-27. doi: 10.1016/j.ajhg.2009.01.022. Epub 2009 Feb 19.

50.

Natural selection has driven population differentiation in modern humans.

Barreiro LB, Laval G, Quach H, Patin E, Quintana-Murci L.

Nat Genet. 2008 Mar;40(3):340-5. doi: 10.1038/ng.78. Epub 2008 Feb 3.

PMID:
18246066

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