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Year Number of Results
2011 2
2014 1
2015 4
2016 1
2017 1
2018 3
2019 4
2020 1
2021 1
2024 1

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17 results

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Page 1
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Multivariate genome-wide analysis of immunoglobulin G N-glycosylation identifies new loci pleiotropic with immune function.
Shadrina AS, Zlobin AS, Zaytseva OO, Klarić L, Sharapov SZ, D Pakhomov E, Perola M, Esko T, Hayward C, Wilson JF, Lauc G, Aulchenko YS, Tsepilov YA. Shadrina AS, et al. Hum Mol Genet. 2021 Jun 17;30(13):1259-1270. doi: 10.1093/hmg/ddab072. Hum Mol Genet. 2021. PMID: 33710309 Free article.
Among the new loci, two (near RNF168 and TNFRSF13B) were previously implicated in rare immune deficiencies and were associated with levels of circulating immunoglobulins. For one new locus (near AP5B1/OVOL1), we demonstrated a potential pleiotropic effect on the risk of as …
Among the new loci, two (near RNF168 and TNFRSF13B) were previously implicated in rare immune deficiencies and were associated with levels o …
Meta-analysis identifies seven susceptibility loci involved in the atopic march.
Marenholz I, Esparza-Gordillo J, Rüschendorf F, Bauerfeind A, Strachan DP, Spycher BD, Baurecht H, Margaritte-Jeannin P, Sääf A, Kerkhof M, Ege M, Baltic S, Matheson MC, Li J, Michel S, Ang WQ, McArdle W, Arnold A, Homuth G, Demenais F, Bouzigon E, Söderhäll C, Pershagen G, de Jongste JC, Postma DS, Braun-Fahrländer C, Horak E, Ogorodova LM, Puzyrev VP, Bragina EY, Hudson TJ, Morin C, Duffy DL, Marks GB, Robertson CF, Montgomery GW, Musk B, Thompson PJ, Martin NG, James A, Sleiman P, Toskala E, Rodriguez E, Fölster-Holst R, Franke A, Lieb W, Gieger C, Heinzmann A, Rietschel E, Keil T, Cichon S, Nöthen MM, Pennell CE, Sly PD, Schmidt CO, Matanovic A, Schneider V, Heinig M, Hübner N, Holt PG, Lau S, Kabesch M, Weidinger S, Hakonarson H, Ferreira MAR, Laprise C, Freidin MB, Genuneit J, Koppelman GH, Melén E, Dizier MH, Henderson AJ, Lee YA. Marenholz I, et al. Nat Commun. 2015 Nov 6;6:8804. doi: 10.1038/ncomms9804. Nat Commun. 2015. PMID: 26542096 Free PMC article.
Additional susceptibility loci identified at genome-wide significance are FLG (1q21.3), IL4/KIF3A (5q31.1), AP5B1/OVOL1 (11q13.1), C11orf30/LRRC32 (11q13.5) and IKZF3 (17q21). ...
Additional susceptibility loci identified at genome-wide significance are FLG (1q21.3), IL4/KIF3A (5q31.1), AP5B1/OVOL1 (11q13.1), C1 …
Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.
Zuo X, Sun L, Yin X, Gao J, Sheng Y, Xu J, Zhang J, He C, Qiu Y, Wen G, Tian H, Zheng X, Liu S, Wang W, Li W, Cheng Y, Liu L, Chang Y, Wang Z, Li Z, Li L, Wu J, Fang L, Shen C, Zhou F, Liang B, Chen G, Li H, Cui Y, Xu A, Yang X, Hao F, Xu L, Fan X, Li Y, Wu R, Wang X, Liu X, Zheng M, Song S, Ji B, Fang H, Yu J, Sun Y, Hui Y, Zhang F, Yang R, Yang S, Zhang X. Zuo X, et al. Nat Commun. 2015 Apr 9;6:6793. doi: 10.1038/ncomms7793. Nat Commun. 2015. PMID: 25854761 Free PMC article.
We discover 16 SNPs within 15 new genes/loci associated with psoriasis, including C1orf141, ZNF683, TMC6, AIM2, IL1RL1, CASR, SON, ZFYVE16, MTHFR, CCDC129, ZNF143, AP5B1, SYNE2, IFNGR2 and 3q26.2-q27 (P<5.00 10(-08)). In addition, we also replicate four known susceptibi …
We discover 16 SNPs within 15 new genes/loci associated with psoriasis, including C1orf141, ZNF683, TMC6, AIM2, IL1RL1, CASR, SON, ZFYVE16, …
Epigenome-wide association study reveals methylation pathways associated with childhood allergic sensitization.
Peng C, Van Meel ER, Cardenas A, Rifas-Shiman SL, Sonawane AR, Glass KR, Gold DR, Platts-Mills TA, Lin X, Oken E, Hivert MF, Baccarelli AA, De Jong NW, Felix JF, Jaddoe VW, Duijts L, Litonjua AA, DeMeo DL. Peng C, et al. Epigenetics. 2019 May;14(5):445-466. doi: 10.1080/15592294.2019.1590085. Epub 2019 Mar 28. Epigenetics. 2019. PMID: 30876376 Free PMC article.
We observed differential methylation across multiple genes for all three phenotypes, including genes implicated previously in innate immunity (DICER1), eosinophilic esophagitis and sinusitis (SIGLEC8), the atopic march (AP5B1) and asthma (EPX, IL4, IL5RA, PRG2, SIGLEC8, CL …
We observed differential methylation across multiple genes for all three phenotypes, including genes implicated previously in innate immunit …
A genome-wide scan for pleiotropy between bone mineral density and nonbone phenotypes.
Christou MA, Ntritsos G, Markozannes G, Koskeridis F, Nikas SN, Karasik D, Kiel DP, Evangelou E, Ntzani EE. Christou MA, et al. Bone Res. 2020 Jul 1;8:26. doi: 10.1038/s41413-020-0101-8. eCollection 2020. Bone Res. 2020. PMID: 32637184 Free PMC article.
These SNPs were associated, in addition to BMD, with 14 different phenotypes. Most pleiotropic associations were exhibited by rs479844 (AP5B1, OVOL1 genes), which was associated with dermatological and allergic diseases, and rs4072037 (MUC1 gene), which was associated with …
These SNPs were associated, in addition to BMD, with 14 different phenotypes. Most pleiotropic associations were exhibited by rs479844 (A …
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A, Rollat Farnier PA, Buisson A, Pinson S, Bentaher A, Lebecque S, Corvol H, Abou Taam R, Houdouin V, Bardel C, Roy P, Devouassoux G, Cottin V, Seve P, Bernaudin JF, Lim CX, Weichhart T, Valeyre D, Pacheco Y, Clement A, Nathan N; in the frame of GSF (Groupe Sarcoïdose France). Calender A, et al. BMC Med Genomics. 2018 Mar 6;11(1):23. doi: 10.1186/s12920-018-0338-x. BMC Med Genomics. 2018. PMID: 29510755 Free PMC article.
Our in-depth focus on 10 of these 37 genes may suggest that the formation of the characteristic lesion in sarcoidosis, granuloma, results from combined deficits in autophagy and intracellular trafficking (ex: Sec16A, AP5B1 and RREB1), G-proteins regulation (ex: OBSCN, CTTN …
Our in-depth focus on 10 of these 37 genes may suggest that the formation of the characteristic lesion in sarcoidosis, granuloma, results fr …
Joint transcriptomic and cytometric study of children with peanut allergy reveals molecular and cellular cross talk in reaction thresholds.
Zhang L, Chun Y, Arditi Z, Grishina G, Lo T, Wisotzkey K, Agashe C, Grishin A, Wang J, Sampson HA, Sicherer S, Berin MC, Bunyavanich S. Zhang L, et al. J Allergy Clin Immunol. 2024 Jan 23:S0091-6749(24)00076-9. doi: 10.1016/j.jaci.2023.12.028. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 38272374
Bayesian network, key driver, and causal mediation analyses identified key drivers (AP5B1, KLHL21, VASP, TPD52L2, and IGF2R) within these modules that are involved in bidirectional causal mediation relationships with neutrophil abundance. ...
Bayesian network, key driver, and causal mediation analyses identified key drivers (AP5B1, KLHL21, VASP, TPD52L2, and IGF2R) within t …
The fifth adaptor protein complex.
Hirst J, Barlow LD, Francisco GC, Sahlender DA, Seaman MN, Dacks JB, Robinson MS. Hirst J, et al. PLoS Biol. 2011 Oct;9(10):e1001170. doi: 10.1371/journal.pbio.1001170. Epub 2011 Oct 11. PLoS Biol. 2011. PMID: 22022230 Free PMC article.
17 results