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16 publications found
Li Z, Reint G, Haapaniemi EM (2023)
Protocol for editing fibroblasts with in vitro transcribed Cas9 mRNA and profile off-target editing by optimized GUIDE-seq
STAR Protoc, 4 (4), 102662
DOI 10.1016/j.xpro.2023.102662, PubMed 37889758
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A et al. (2022)
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
J Allergy Clin Immunol, 151 (4), 1081-1095
DOI 10.1016/j.jaci.2022.09.002, PubMed 36228738
Reint G, Li Z, Labun K, Keskitalo S, Soppa I, Mamia K, Tolo E, Szymanska M, Meza-Zepeda LA, Lorenz S, Cieslar-Pobuda A, Hu X, Bordin DL, Staerk J, Valen E, Schmierer B, Varjosalo M, Taipale J, Haapaniemi E (2021)
Rapid genome editing by CRISPR-Cas9-POLD3 fusion
Elife, 10
DOI 10.7554/eLife.75415, PubMed 34898428
Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P, Mamia K, Pernaa N, Lehtonen J, Glumoff V, Rahikkala E, Honkila M, Olsén P, Hassinen A, Polso M, Al Sukaiti N, Al Shekaili J, Al Kindi M, Al Hashmi N, Almusa H, Bulanova D, Haapaniemi E, Chen P, Suo-Palosaari M, Vieira P, Tuominen H et al. (2021)
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction
J Allergy Clin Immunol, 148 (2), 599-611
DOI 10.1016/j.jaci.2020.12.656, PubMed 33662367
Keskitalo S, Haapaniemi E, Einarsdottir E, Rajamäki K, Heikkilä H, Ilander M, Pöyhönen M, Morgunova E, Hokynar K, Lagström S, Kivirikko S, Mustjoki S, Eklund K, Saarela J, Kere J, Seppänen MRJ, Ranki A, Hannula-Jouppi K, Varjosalo M (2019)
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
Front Immunol, 10, 2770
DOI 10.3389/fimmu.2019.02770, PubMed 31866997
Keskitalo S, Haapaniemi EM, Glumoff V, Liu X, Lehtinen V, Fogarty C, Rajala H, Chiang SC, Mustjoki S, Kovanen P, Lohi J, Bryceson YT, Seppänen M, Kere J, Heiskanen K, Varjosalo M (2019)
Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease
NPJ Genom Med, 4, 14
DOI 10.1038/s41525-019-0088-5, PubMed 31263572
Sharapova SO, Haapaniemi E, Sakovich IS, Kostyuchenko LV, Donkó A, Dulau-Florea A, Malko O, Bondarenko AV, Stegantseva MV, Leto TL, Uygun V, Karasu GT, Holland SM, Hsu AP, Aleinikova OV (2019)
Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections
Clin Immunol, 205, 1-5
DOI 10.1016/j.clim.2019.05.003, PubMed 31071452
Haapaniemi E, Botla S, Persson J, Schmierer B, Taipale J (2018)
CRISPR-Cas9 genome editing induces a p53-mediated DNA damage response
Nat Med, 24 (7), 927-930
DOI 10.1038/s41591-018-0049-z, PubMed 29892067
Kaustio M, Haapaniemi E, Göös H, Hautala T, Park G, Syrjänen J, Einarsdottir E, Sahu B, Kilpinen S, Rounioja S, Fogarty CL, Glumoff V, Kulmala P, Katayama S, Tamene F, Trotta L, Morgunova E, Krjutškov K, Nurmi K, Eklund K, Lagerstedt A, Helminen M, Martelius T, Mustjoki S, Taipale J et al. (2017)
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes
J Allergy Clin Immunol, 140 (3), 782-796
DOI 10.1016/j.jaci.2016.10.054, PubMed 28115215
Dobbs K, Domínguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Çiftçi E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskoloğlu Ş, Ensari A, Schuster M, Moretta A, Itan Y et al. (2015)
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections
N Engl J Med, 372 (25), 2409-22
DOI 10.1056/NEJMoa1413462, PubMed 26083206
Haapaniemi EM, Kaustio M, Rajala HL, van Adrichem AJ, Kainulainen L, Glumoff V, Doffinger R, Kuusanmäki H, Heiskanen-Kosma T, Trotta L, Chiang S, Kulmala P, Eldfors S, Katainen R, Siitonen S, Karjalainen-Lindsberg ML, Kovanen PE, Otonkoski T, Porkka K, Heiskanen K, Hänninen A, Bryceson YT, Uusitalo-Seppälä R, Saarela J, Seppänen M et al. (2014)
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3
Blood, 125 (4), 639-48
DOI 10.1182/blood-2014-04-570101, PubMed 25349174
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppänen M, Lernmark Å, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT (2014)
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
Nat Genet, 46 (8), 812-814
DOI 10.1038/ng.3040, PubMed 25038750
Sakovich IS, Haapaniemi E, PID_team_Belarus, Saarela J, Sharapova SO (2023)
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant
J Clin Immunol, 44 (1), 9
DOI 10.1007/s10875-023-01609-1, PubMed 38129711
Haapaniemi E, Botla S, Persson J, Schmierer B, Taipale J (2019)
Reply to "CRISPR screens are feasible in TP53 wild-type cells"
Mol Syst Biol, 15 (8), e9059
DOI 10.15252/msb.20199059, PubMed 31464368
Sharapova SO, Haapaniemi E, Sakovich IS, Rojas J, Gámez-Díaz L, Mareika YE, Guryanova IE, Migas AA, Mikhaleuskaya TM, Grimbacher B, Aleinikova OV (2018)
Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family
J Clin Immunol, 38 (4), 471-474
DOI 10.1007/s10875-018-0515-x, PubMed 29804237
Haapaniemi EM, Fogarty CL, Keskitalo S, Katayama S, Vihinen H, Ilander M, Mustjoki S, Krjutškov K, Lehto M, Hautala T, Eriksson O, Jokitalo E, Velagapudi V, Varjosalo M, Seppänen M, Kere J (2016)
Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1
J Allergy Clin Immunol, 139 (4), 1391-1393.e11
DOI 10.1016/j.jaci.2016.09.050, PubMed 27913302
