| 1 | NEDMABA, SMPD4
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| Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
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| Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.
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| Am J Hum Genet 105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.
2019
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| 2 | ARL6IP6, ITPRIP, MFSD10, SMPD4, TMX4
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| Identification of new transmembrane proteins concentrated at the nuclear envelope using organellar proteomics of mesenchymal cells.
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| Cheng LC, Baboo S, Lindsay C, Brusman L, Martinez-Bartolomé S, Tapia O, Zhang X, Yates JR 3rd, Gerace L.
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| Nucleus 10(1):126-143. doi: 10.1080/19491034.2019.1618175. 2019
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| 3 | CPAP2, CSF2RA, CSF2RB, SMPD4
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| Pulmonary alveolar proteinosis.
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| Trapnell BC, Nakata K, Bonella F, Campo I, Griese M, Hamilton J, Wang T, Morgan C, Cottin V, McCarthy C.
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| Nat Rev Dis Primers 5(1):16. doi: 10.1038/s41572-019-0066-3. Review.
2019
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| 4 | DNASE1L3, ENAM, FRMPD2, HIKESHI, MAP6D1, NR3C2, PLEKHA9, SMPD4
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| Gene expression-based biomarkers for discriminating early and late stage of clear cell renal cancer
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| Bhalla S, Chaudhary K, Kumar R, Sehgal M, Kaur H, Sharma S, Raghava GP
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| Sci Rep. Mar 28;7:44997. doi: 10.1038/srep44997. 2017
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| 5 | SMPD4
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| Neutral sphingomyelinase-3 mediates TNF-stimulated oxidant activity in skeletal muscle.
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| Moylan JS, Smith JD, Wolf Horrell EM, McLean JB, Deevska GM, Bonnell MR, Nikolova-Karakashian MN, Reid MB.
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| Redox Biol 2:910-20. doi: 10.1016/j.redox.2014.07.006. eCollection 2014.
2014
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| 6 | SMPD2, SMPD3, SMPD4
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| Transcriptional regulation of neutral sphingomyelinase 2 gene expression of a human breast cancer cell line, MCF-7, induced by the anti-cancer drug, daunorubicin.
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| Ito H, Murakami M, Furuhata A, Gao S, Yoshida K, Sobue S, Hagiwara K, Takagi A, Kojima T, Suzuki M, Banno Y, Tanaka K, Tamiya-Koizumi K, Kyogashima M, Nozawa Y, Murate T.
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| Biochim Biophys Acta 1789(11-12):681-90. Epub 2009 Aug 19.PMID: 19698806 2009
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| 7 | SMPD4
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| Neutral sphingomyelinase-3 is a DNA damage and nongenotoxic stress-regulated gene that is deregulated in human malignancies.
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| Corcoran CA, He Q, Ponnusamy S, Ogretmen B, Huang Y, Sheikh MS.
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| Mol Cancer Res 6(5):795-807.PMID: 18505924 2008
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| 8 | SMPD4
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| Novel tumor necrosis factor-responsive mammalian neutral sphingomyelinase-3 is a C-tail-anchored protein.
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| Krut O, Wiegmann K, Kashkar H, Yazdanpanah B, Krönke M.
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| J Biol Chem 281(19):13784-93. Epub 2006 Mar 3.
2006
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