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PubMed for id: 20162566

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Page 1
Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.
Theil AF, Pines A, Kalayci T, Heredia-Genestar JM, Raams A, Rietveld MH, Sridharan S, Tanis SE, Mulder KW, Büyükbabani N, Karaman B, Uyguner ZO, Kayserili H, Hoeijmakers JH, Lans H, Demmers JA, Pothof J, Altunoglu U, El Ghalbzouri A, Vermeulen W. Theil AF, et al. EMBO Mol Med. 2023 Nov 8;15(11):e17973. doi: 10.15252/emmm.202317973. Epub 2023 Oct 6. EMBO Mol Med. 2023. PMID: 37800682 Free PMC article.
Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain.
Clark NE, Katolik A, Gallant P, Welch A, Murphy E, Buerer L, Schorl C, Naik N, Naik MT, Holloway SP, Cano K, Weintraub ST, Howard KM, Hart PJ, Jogl G, Damha MJ, Fairbrother WG. Clark NE, et al. J Biol Chem. 2023 Sep;299(9):105100. doi: 10.1016/j.jbc.2023.105100. Epub 2023 Jul 26. J Biol Chem. 2023. PMID: 37507019 Free PMC article.
Trichothiodystrophy type 4 in an Indian family.
Pande S, Shukla A, Girisha KM. Pande S, et al. Am J Med Genet A. 2020 Oct;182(10):2226-2229. doi: 10.1002/ajmg.a.61794. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 33043633
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW. Nakabayashi K, et al. Am J Hum Genet. 2005 Mar;76(3):510-6. doi: 10.1086/428141. Epub 2005 Jan 11. Am J Hum Genet. 2005. PMID: 15645389 Free PMC article.
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW. Nakabayashi K, et al. Genomics. 2002 Feb;79(2):186-96. doi: 10.1006/geno.2002.6695. Genomics. 2002. PMID: 11829489