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Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, Schäffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B. Sassi A, et al. Among authors: moens ln. J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1. J Allergy Clin Immunol. 2014. PMID: 24698316 Free PMC article. Clinical Trial.
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.
Lundin KE, Hamasy A, Backe PH, Moens LN, Falk-Sörqvist E, Elgstøen KB, Mørkrid L, Bjørås M, Granert C, Norlin AC, Nilsson M, Christensson B, Stenmark S, Smith CI. Lundin KE, et al. Among authors: moens ln. Clin Immunol. 2015 Dec;161(2):366-72. doi: 10.1016/j.clim.2015.10.002. Epub 2015 Oct 19. Clin Immunol. 2015. PMID: 26482871 Free PMC article.
Mutation patterns in a population-based non-small cell lung cancer cohort and prognostic impact of concomitant mutations in KRAS and TP53 or STK11.
La Fleur L, Falk-Sörqvist E, Smeds P, Berglund A, Sundström M, Mattsson JS, Brandén E, Koyi H, Isaksson J, Brunnström H, Nilsson M, Micke P, Moens L, Botling J. La Fleur L, et al. Lung Cancer. 2019 Apr;130:50-58. doi: 10.1016/j.lungcan.2019.01.003. Epub 2019 Jan 9. Lung Cancer. 2019. PMID: 30885352 Free article.
Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer.
Mathot L, Kundu S, Ljungström V, Svedlund J, Moens L, Adlerteg T, Falk-Sörqvist E, Rendo V, Bellomo C, Mayrhofer M, Cortina C, Sundström M, Micke P, Botling J, Isaksson A, Moustakas A, Batlle E, Birgisson H, Glimelius B, Nilsson M, Sjöblom T. Mathot L, et al. Cancer Res. 2017 Apr 1;77(7):1730-1740. doi: 10.1158/0008-5472.CAN-16-1921. Epub 2017 Jan 20. Cancer Res. 2017. PMID: 28108514
Evaluation of NTRK immunohistochemistry as a screening method for NTRK gene fusion detection in non-small cell lung cancer.
Elfving H, Broström E, Moens LNJ, Almlöf J, Cerjan D, Lauter G, Nord H, Mattsson JSM, Ullenhag GJ, Strell C, Backman M, La Fleur L, Brunnström H, Botling J, Micke P. Elfving H, et al. Among authors: moens lnj. Lung Cancer. 2021 Jan;151:53-59. doi: 10.1016/j.lungcan.2020.11.023. Epub 2020 Nov 27. Lung Cancer. 2021. PMID: 33310622
Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.
Moens LN, De Rijk P, Reumers J, Van den Bossche MJ, Glassee W, De Zutter S, Lenaerts AS, Nordin A, Nilsson LG, Medina Castello I, Norrback KF, Goossens D, Van Steen K, Adolfsson R, Del-Favero J. Moens LN, et al. PLoS One. 2011;6(8):e23450. doi: 10.1371/journal.pone.0023450. Epub 2011 Aug 11. PLoS One. 2011. PMID: 21853134 Free PMC article.
New technologies for DNA analysis--a review of the READNA Project.
McGinn S, Bauer D, Brefort T, Dong L, El-Sagheer A, Elsharawy A, Evans G, Falk-Sörqvist E, Forster M, Fredriksson S, Freeman P, Freitag C, Fritzsche J, Gibson S, Gullberg M, Gut M, Heath S, Heath-Brun I, Heron AJ, Hohlbein J, Ke R, Lancaster O, Le Reste L, Maglia G, Marie R, Mauger F, Mertes F, Mignardi M, Moens L, Oostmeijer J, Out R, Pedersen JN, Persson F, Picaud V, Rotem D, Schracke N, Sengenes J, Stähler PF, Stade B, Stoddart D, Teng X, Veal CD, Zahra N, Bayley H, Beier M, Brown T, Dekker C, Ekström B, Flyvbjerg H, Franke A, Guenther S, Kapanidis AN, Kaye J, Kristensen A, Lehrach H, Mangion J, Sauer S, Schyns E, Tost J, van Helvoort JM, van der Zaag PJ, Tegenfeldt JO, Brookes AJ, Mir K, Nilsson M, Willcocks JP, Gut IG. McGinn S, et al. N Biotechnol. 2016 May 25;33(3):311-30. doi: 10.1016/j.nbt.2015.10.003. Epub 2015 Oct 26. N Biotechnol. 2016. PMID: 26514324 Review.
32 results