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Year | Number of Results |
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PubMed (GeneRIF) for id: 23258
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Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma.
Genet Med. 2022 Jan;24(1):157-169. doi: 10.1016/j.gim.2021.09.003. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906508
Free PMC article.
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.
Han C, Alkhater R, Froukh T, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R, Minassian BA, McPherson PS.
Han C, et al.
Am J Hum Genet. 2016 Dec 1;99(6):1359-1367. doi: 10.1016/j.ajhg.2016.10.006. Epub 2016 Nov 17.
Am J Hum Genet. 2016.
PMID: 27866705
Free PMC article.
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Mapping the interactions between a RUN domain from DENND5/Rab6IP1 and sorting nexin 1.
Fernandes H, Franklin E, Jollivet F, Bliedtner K, Khan AR.
Fernandes H, et al.
PLoS One. 2012;7(4):e35637. doi: 10.1371/journal.pone.0035637. Epub 2012 Apr 25.
PLoS One. 2012.
PMID: 22558185
Free PMC article.
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Structural basis for recruitment of Rab6-interacting protein 1 to Golgi via a RUN domain.
Recacha R, Boulet A, Jollivet F, Monier S, Houdusse A, Goud B, Khan AR.
Recacha R, et al.
Structure. 2009 Jan 14;17(1):21-30. doi: 10.1016/j.str.2008.10.014.
Structure. 2009.
PMID: 19141279
Free article.
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