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References

These sources were used to develop the Genetics Home Reference gene summary on the MPLKIP gene.

Botta E, Offman J, Nardo T, Ricotti R, Zambruno G, Sansone D, Balestri P, Raams A, Kleijer WJ, Jaspers NG, Sarasin A, Lehmann AR, Stefanini M. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. Hum Mutat. 2007 Jan;28(1):92-6. PubMed citation
Entrez Gene
Faghri S, Tamura D, Kraemer KH, Digiovanna JJ. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25. Review. PubMed citation
Hashimoto S, Egly JM. Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH. Hum Mol Genet. 2009 Oct 15;18(R2):R224-30. doi: 10.1093/hmg/ddp390. Review. PubMed citation
Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience. 2007 Apr 14;145(4):1388-96. Epub 2007 Feb 1. Review. PubMed citation
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. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet. 2005 Mar;76(3):510-6. Epub 2005 Jan 11. PubMed citation
Stefanini M, Botta E, Lanzafame M, Orioli D. Trichothiodystrophy: from basic mechanisms to clinical implications. DNA Repair (Amst). 2010 Jan 2;9(1):2-10. doi: 10.1016/j.dnarep.2009.10.005. Review. PubMed citation
Zhang Y, Tian Y, Chen Q, Chen D, Zhai Z, Shu HB. TTDN1 is a Plk1-interacting protein involved in maintenance of cell cycle integrity. Cell Mol Life Sci. 2007 Mar;64(5):632-40. PubMed citation


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