| 1 | PRPH
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| A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.
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| Bjornsdottir G, Ivarsdottir EV, Bjarnadottir K, Benonisdottir S, Gylfadottir SS, Arnadottir GA, Benediktsson R, Halldorsson GH, Helgadottir A, Jonasdottir A, Jonasdottir A, Jonsdottir I, Kristinsdottir AM, Magnusson OT, Masson G, Melsted P, Rafnar T, Sigurdsson A, Sigurdsson G, Skuladottir A, Steinthorsdottir V, Styrkarsdottir U, Thorgeirsson G, Thorleifsson G, Vikingsson A, Gudbjartsson DF, Holm H, Stefansson H, Thorsteinsdottir U, Norddahl GL, Sulem P, Thorgeirsson TE, Stefansson K.
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| Nat Commun. Apr 16;10(1):1777. doi: 10.1038/s41467-019-09719-4. 2019
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| 2 | MDBS3, PRPH
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| Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln
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| Khan AO.
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| Ophthalmic Genet. Feb;40(1):60-63. doi: 10.1080/13816810.2019.1579346. 2019
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| 3 | PRPH
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| Utility of Peripherin Versus MAP-2 and Calretinin in the Evaluation of Hirschsprung Disease
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| Chisholm KM, Longacre TA.
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| Appl Immunohistochem Mol Morphol. Oct;24(9):627-632. doi: 10.1097/PAI.0000000000000241. 2016
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| 4 | CMT2B, PRPH, RAB7A
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| Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin
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| Cogli L, Progida C, Thomas CL, Spencer-Dene B, Donno C, Schiavo G, Bucci C.
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| Acta Neuropathol. Feb;125(2):257-72. doi: 10.1007/s00401-012-1063-8. Epub 2012 Nov 23. 2013
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| 5 | B9D2, INVS, IQCB1, PRPH
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| Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos.
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| Zhao C, Malicki J.
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| EMBO J 30(13):2532-44. doi: 10.1038/emboj.2011.165.
2011
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| 6 | PRPH, SYNC
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| Syncoilin modulates peripherin filament networks and is necessary for large-calibre motor neurons
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| Clarke WT, Edwards B, McCullagh KJ, Kemp MW, Moorwood C, Sherman DL, Burgess M, Davies KE.
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| J Cell Sci. Aug 1;123(Pt 15):2543-52. doi: 10.1242/jcs.059113. Epub 2010 Jun 29. 2010
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| 7 | PRPH
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| Expression of peripherin in human cochlea
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| Liu W, Kinnefors A, Boström M, Rask-Andersen H.
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| Cell Tissue Res. Dec;342(3):345-51. doi: 10.1007/s00441-010-1081-6. Epub 2010 Nov 20. 2010
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| 8 | PRPH
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| An aggregate-inducing peripherin isoform generated through intron retention is upregulated in amyotrophic lateral sclerosis and associated with disease pathology.
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| Xiao S, Tjostheim S, Sanelli T, McLean JR, Horne P, Fan Y, Ravits J, Strong MJ, Robertson J.
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| J Neurosci 28(8):1833-40.
2008
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| 9 | PRPH
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| A novel peripherin isoform generated by alternative translation is required for normal filament network formation.
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| McLean J, Xiao S, Miyazaki K, Robertson J.
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| J Neurochem 104(6):1663-73. Epub 2008 Jan 17.PMID: 18205747 2008
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| 10 | PRPH
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| Identification of peripherin as a Akt substrate in neurons.
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| Konishi H, Namikawa K, Shikata K, Kobatake Y, Tachibana T, Kiyama H.
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| J Biol Chem 282(32):23491-9. Epub 2007 Jun 14. 2007
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| 11 | MDBS3, PRPH
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| Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene.
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| Simonelli F, Testa F, Marini V, Interlandi E, Rossi S, Pognuz DR, Virgili G, Garrè C, Bandello F.
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| Ophthalmic Res 39(5):255-9. Epub 2007 Sep 12.PMID: 17851265 2007
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| 12 | PRPH
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| A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.
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| Gros-Louis F, Lariviere R, Gowing G, Laurent S, Camu W, Bouchard JP, Meininger V, Rouleau GA, Julien JP.
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| J Biol Chem 279(44):45951-6. Epub 2004 Aug 17. 2004
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| 13 | PRPH, KRT18
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| Peripherin gene is linked to keratin 18 gene on human chromosome 12.
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| Blumenfeld A, et al.
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| Somat Cell Mol Genet 21 : 83-88. 1995
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| 14 | PRPH
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| The structure of the human peripherin gene (PRPH) and identification of potential regulatory elements.
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| Foley J, et al.
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| Genomics 22 : 456-461. 1994
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| 15 | PRPH
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| Chromosomal localisation of the mouse and human peripherin genes.
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| Moncla A, et al.
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| Genet Res 59 : 125-129. 1992
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