| 1 | AMCD5D, ECEL1
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| The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
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| Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J.
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| Hum Mol Genet um Mol Genet. 2013 Feb 7. [Epub ahead of print]
2013
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| 2 | AMCD5D, ECEL1
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| Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D.
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| McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics.
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| Am J Hum Genet 92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20.
2013
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| 3 | ECEL1
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| Damage-induced neuronal endopeptidase is critical for presynaptic formation of neuromuscular junctions.
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| Nagata K, Kiryu-Seo S, Maeda M, Yoshida K, Morita T, Kiyama H.
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| J Neurosci 30(20):6954-62. doi: 10.1523/JNEUROSCI.4521-09.2010.
2010
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| 4 | ECEL1
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| Localization and ontogeny of damage-induced neuronal endopeptidase mRNA-expressing neurons in the rat nervous system.
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| Nagata K, Kiryu-Seo S, Kiyama H.
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| Neuroscience 141(1):299-310. Epub 2006 May 3.
2006
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| 5 | ECEL1
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| Endothelin-converting enzyme-like 1 (ECEL1) is present both in the plasma membrane and in the endoplasmic reticulum.
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| Benoit A, Vargas MA, Desgroseillers L, Boileau G.
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| Biochem J 380(Pt 3):881-8. 2004
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| 6 | ECEL1
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| Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration.
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| Valdenaire O, Rohrbacher E, Langeveld A, Schweizer A, Meijers C.
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| Biochem J 346 Pt 3:611-6. 2000
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| 7 | ECEL1
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| Endothelin-converting enzyme-like 1 (ECEL1; 'XCE'): a putative metallopeptidase crucially involved in the nervous control of respiration.
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| Valdenaire O, Schweizer A.
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| Biochem Soc Trans 28(4):426-30. Review. 2000
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