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Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome.
Edridge AWD, Abd-Elfarag G, Deijs M, Broeks MH, Cristella C, Sie B, Vaz FM, Jans JJM, Calis J, Verhoef H, Demir A, Poppert S, Nickel B, van Dam A, Sebit B, Titulaer MJ, Verweij JJ, de Jong MD, van Gool T, Faragher B, Verhoeven-Duif NM, Elledge SJ, van der Hoek L, Boele van Hensbroek M. Edridge AWD, et al. Among authors: jans jjm. Brain Commun. 2023 Aug 17;5(5):fcad223. doi: 10.1093/braincomms/fcad223. eCollection 2023. Brain Commun. 2023. PMID: 37731906 Free PMC article.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V. Ait-El-Mkadem S, et al. Among authors: jans jjm. Am J Hum Genet. 2017 Jan 5;100(1):151-159. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15. Am J Hum Genet. 2017. PMID: 27989324 Free PMC article.
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
Andressoo JO, Mitchell JR, de Wit J, Hoogstraten D, Volker M, Toussaint W, Speksnijder E, Beems RB, van Steeg H, Jans J, de Zeeuw CI, Jaspers NG, Raams A, Lehmann AR, Vermeulen W, Hoeijmakers JH, van der Horst GT. Andressoo JO, et al. Cancer Cell. 2006 Aug;10(2):121-32. doi: 10.1016/j.ccr.2006.05.027. Cancer Cell. 2006. PMID: 16904611 Free article.
Dissemination and analysis of the quality assurance (QA) and quality control (QC) practices of LC-MS based untargeted metabolomics practitioners.
Evans AM, O'Donovan C, Playdon M, Beecher C, Beger RD, Bowden JA, Broadhurst D, Clish CB, Dasari S, Dunn WB, Griffin JL, Hartung T, Hsu PC, Huan T, Jans J, Jones CM, Kachman M, Kleensang A, Lewis MR, Monge ME, Mosley JD, Taylor E, Tayyari F, Theodoridis G, Torta F, Ubhi BK, Vuckovic D; Metabolomics Quality Assurance, Quality Control Consortium (mQACC). Evans AM, et al. Metabolomics. 2020 Oct 12;16(10):113. doi: 10.1007/s11306-020-01728-5. Metabolomics. 2020. PMID: 33044703 Free PMC article.
Differential role of basal keratinocytes in UV-induced immunosuppression and skin cancer.
Jans J, Garinis GA, Schul W, van Oudenaren A, Moorhouse M, Smid M, Sert YG, van der Velde A, Rijksen Y, de Gruijl FR, van der Spek PJ, Yasui A, Hoeijmakers JH, Leenen PJ, van der Horst GT. Jans J, et al. Mol Cell Biol. 2006 Nov;26(22):8515-26. doi: 10.1128/MCB.00807-06. Epub 2006 Sep 11. Mol Cell Biol. 2006. PMID: 16966369 Free PMC article.
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.
Pekkinen M, Terhal PA, Botto LD, Henning P, Mäkitie RE, Roschger P, Jain A, Kol M, Kjellberg MA, Paschalis EP, van Gassen K, Murray M, Bayrak-Toydemir P, Magnusson MK, Jans J, Kausar M, Carey JC, Somerharju P, Lerner UH, Olkkonen VM, Klaushofer K, Holthuis JC, Mäkitie O. Pekkinen M, et al. JCI Insight. 2019 Apr 4;4(7):e126180. doi: 10.1172/jci.insight.126180. eCollection 2019 Apr 4. JCI Insight. 2019. PMID: 30779713 Free PMC article.
93 results