| 1 | ELANE, SCNP1
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| ELANE mutant-specific activation of different UPR pathways in congenital neutropenia.
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| Nustede R, Klimiankou M, Klimenkova O, Kuznetsova I, Zeidler C, Welte K, Skokowa J.
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| Br J Haematol 172(2):219-27. doi: 10.1111/bjh.13823. Epub 2015 Nov 16.
2016
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| 2 | ELANE, SCNP1
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| Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene.
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| Cho HK, Jeon IS.
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| J Korean Med Sci 29(3):452-5. doi: 10.3346/jkms.2014.29.3.452. Epub 2014 Feb 27.
2014
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| 3 | ELANE, SCNP1
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| Ela2 mutations and clinical manifestations in familial congenital neutropenia.
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| Shiohara M, Shigemura T, Saito S, Tanaka M, Yanagisawa R, Sakashita K, Asada H, Ishii E, Koike K, Chin M, Kobayashi M, Koike K.
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| J Pediatr Hematol Oncol 31(5):319-24.PMID: 19415009 2009
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| 4 | ELANE, SCNP1
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| Severe congenital neutropenia and the unfolded protein response.
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| Xia J, Link DC.
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| Curr Opin Hematol 15(1):1-7. Review.PMID: 18043239 2008
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| 5 | ELANE, SCNP1
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| Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.
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| Salipante SJ, Benson KF, Luty J, Hadavi V, Kariminejad R, Kariminejad MH, Rezaei N, Horwitz MS.
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| Hum Mutat 28(9):874-81. 2007
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| 6 | SCNH, SCNP1
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| Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells.
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| Carlsson G, Aprikyan AA, Tehranchi R, Dale DC, Porwit A, Hellstrom-Lindberg E, Palmblad J, Henter JI, Fadeel B.
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| Blood 103(9):3355-61. Epub 2004 Feb 5. 2004
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| 7 | ELA2, ELANE, SCNP1
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| Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
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| Bellanne-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J.
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| Blood 103(11):4119-25. Epub 2004 Feb 12. 2004
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| 8 | ELA2, ELANE, SCNP1
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| Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.
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| Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC.
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| Blood 98(9):2645-50. 2001
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| 9 | ELA2, ELANE, SCNP1
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| Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
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| Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M.
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| Blood 96(7):2317-22. 2000
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