| Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation. | 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., Free PMC Article | 11/14/2023 |
| Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain. | 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., Free PMC Article | 10/4/2023 |
| A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4. | A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4.
Strang-Karlsson S, von Willebrand M, Avela K, Wallgren-Pettersson C. | 09/4/2021 |
| Trichothiodystrophy type 4 in an Indian family. | Trichothiodystrophy type 4 in an Indian family.
Pande S, Shukla A, Girisha KM. | 06/5/2021 |
| Chromosome microarray analysis showed a 125kb homozygous pathogenic deletion, which includes genes MPLKIP and SUGCT, not described before. This is the first case described in Peru of a novel contiguous gene deletion of Trichothiodystrophy type 4 and Glutaric aciduria type 3 performed by chromosome microarray analysis. | Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3.
La Serna-Infantes J, Pastor MC, Trubnykova M, Velásquez FC, Sotomayor FV, Barriga HA. | 10/13/2018 |
| A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred | A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.
Pode-Shakked B, Marek-Yagel D, Greenberger S, Pode-Shakked N, Pras E, Barzilai A, Yassin S, Sidi Y, Anikster Y. | 10/22/2016 |
| This study extends the allelic and phenotypic spectra of MPLKIP-related trichothiodystrophy, to include a splice variant that causes cardiomyopathy as part of the trichothiodystrophy phenotype. | Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.
Shah K, Ali RH, Ansar M, Lee K, Chishti MS, Abbe I, Li B, University of Washington Center for Mendelian Genomics, Smith JD, Nickerson DA, Shendure J, Coucke PJ, Steyaert W, Bamshad MJ, Santos-Cortez RLP, Leal SM, Ahmad W., Free PMC Article | 05/14/2016 |
| There is a distinct phenotype relationship in trichothiodystrophy caused by TTDN1 mutations. | Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.
Heller ER, Khan SG, Kuschal C, Tamura D, DiGiovanna JJ, Kraemer KH., Free PMC Article | 05/9/2015 |
| TTDN1 is phosphorylated in mitosis, and this is required for its interaction with polo-like kinase 1. | TTDN1 is a Plk1-interacting protein involved in maintenance of cell cycle integrity.
Zhang Y, Tian Y, Chen Q, Chen D, Zhai Z, Shu HB., Free PMC Article | 01/21/2010 |
| Given the absence of cutaneous photosensitivity in the patients with C7orf11 mutations, together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair. | 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., Free PMC Article | 01/21/2010 |
| Reported mutations in Trichothiodystrophy do not affect TTDN1 response to ultraviolet (UV) light or the steady state level of the repair/transcription factor IIH (TFIIH), which is central to the onset of the photosensitive form of TTD. | Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
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. | 01/21/2010 |