| 1 | EBSSH, KLHL24
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| Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex.
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| Lee JY, Liu L, Hsu CK, Aristodemou S, Ozoemena L, Ogboli M, Moss C, Martinez AE, Mellerio JE, McGrath JA.
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| J Invest Dermatol Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5. doi: 10.1016/j.jid.2017.01.004. [Epub ahead of print] No abstract avai 2017
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| 2 | EBSSH, KLHL24
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| Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.
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| Lin Z, Li S, Feng C, Yang S, Wang H, Ma D, Zhang J, Gou M, Bu D, Zhang T, Kong X, Wang X, Sarig O, Ren Y, Dai L, Liu H, Zhang J, Li F, Hu Y, Padalon-Brauch G, Vodo D, Zhou F, Chen T, Deng H, Sprecher E, Yang Y, Tan X.
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| Nat Genet 48(12):1508-1516. doi: 10.1038/ng.3701.
2016
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| 3 | EBSSH, KLHL24
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| Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
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| He Y, Maier K, Leppert J, Hausser I, Schwieger-Briel A, Weibel L, Theiler M, Kiritsi D, Busch H, Boerries M, Hannula-Jouppi K, Heikkilä H, Tasanen K, Castiglia D, Zambruno G, Has C.
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| Am J Hum Genet 99(6):1395-1404. doi: 10.1016/j.ajhg.2016.11.005.
2016
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| 4 | KLHL24, PICK1
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| The BTB/kelch protein, KRIP6, modulates the interaction of PICK1 with GluR6 kainate receptors.
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| Laezza F, Wilding TJ, Sequeira S, Craig AM, Huettner JE.
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| Neuropharmacology 55(7):1131-9. Epub 2008 Jul 23.
2008
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| 5 | GRIK2, KLHL24, PICK1
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| KRIP6: a novel BTB/kelch protein regulating function of kainate receptors.
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| Laezza F, Wilding TJ, Sequeira S, Coussen F, Zhang XZ, Hill-Robinson R, Mulle C, Huettner JE, Craig AM.
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| Mol Cell Neurosci 34(4):539-50. Epub 2007 Jan 24. 2007
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