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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.
However, to date, no such link to instability of gene-expression factors for TTD-associated mutations in MPLKIP/TTDN1 has been established. Here, we present seven additional TTD individuals with MPLKIP mutations from five consanguineous families, with a newly identi …
However, to date, no such link to instability of gene-expression factors for TTD-associated mutations in MPLKIP/TTDN1 has been establ …
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. Strang-Karlsson S, et al. Am J Med Genet A. 2021 Jun;185(6):1875-1882. doi: 10.1002/ajmg.a.62168. Epub 2021 Mar 17. Am J Med Genet A. 2021. PMID: 33729667
We describe three patients from two Finnish families in whom whole-exome sequencing revealed a novel homozygous variant, c.26del, p.(Pro9Glnfs*144) in the MPLKIP-gene, confirming the diagnosis of non-photosensitive trichothiodystrophy type 4 (TTD4). ...This report adds to …
We describe three patients from two Finnish families in whom whole-exome sequencing revealed a novel homozygous variant, c.26del, p.(Pro9Gln …
A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.
Zhou YK, Yang XC, Cao Y, Su H, Liu L, Liang Z, Zheng Y. Zhou YK, et al. BMC Med Genet. 2018 Dec 31;19(Suppl 1):214. doi: 10.1186/s12881-018-0723-5. BMC Med Genet. 2018. PMID: 30598092 Free PMC article.
The G insertion in MPLKIP were compared to the dbSNP. RESULTS: The female patient of TTDN1 carries a homozygous G insertion (rs747470385) in the MPLKIP gene. ...These results provide novel insights into the association of mutations in MPLKIP and TTDN1 with hy …
The G insertion in MPLKIP were compared to the dbSNP. RESULTS: The female patient of TTDN1 carries a homozygous G insertion (rs747470 …
Development and validation of a prognostic model for cervical cancer by combination of machine learning and high-throughput sequencing.
Shi R, Chang L, Shi L, Zhang Z, Zhang L, Li X. Shi R, et al. Eur J Surg Oncol. 2024 Apr;50(4):108241. doi: 10.1016/j.ejso.2024.108241. Epub 2024 Mar 2. Eur J Surg Oncol. 2024. PMID: 38452717
RESULTS: The results demonstrated the successful construction of a prognostic model based on DEGs from bulk- and scRNA-seq data. Ten genes CXCL8, DLC1, GRN, MPLKIP, PRDX1, RUNX1, SNX3, TFRC, UBE2V2, and UQCRC1 were screened by feature selection and applied for model constr …
RESULTS: The results demonstrated the successful construction of a prognostic model based on DEGs from bulk- and scRNA-seq data. Ten genes C …
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. Shah K, et al. BMC Med Genet. 2016 Feb 16;17:13. doi: 10.1186/s12881-016-0275-5. BMC Med Genet. 2016. PMID: 26880286 Free PMC article.
Exome sequencing in the probands from families ED168 and ED241 identified a homozygous splice mutation c.339 + 1G > A within MPLKIP. The same splice variant co-segregates with TTDN in a third family ED210. The MPLKIP splice variant was not found in public databas …
Exome sequencing in the probands from families ED168 and ED241 identified a homozygous splice mutation c.339 + 1G > A within MPLKIP …
A functional link between lariat debranching enzyme and the intron-binding complex is defective in non-photosensitive trichothiodystrophy.
Townley BA, Buerer L, Tsao N, Bacolla A, Mansoori F, Rusanov T, Clark N, Goodarzi N, Schmidt N, Srivatsan SN, Sun H, Sample RA, Brickner JR, McDonald D, Tsai MS, Walter MJ, Wozniak DF, Holehouse AS, Pena V, Tainer JA, Fairbrother WG, Mosammaparast N. Townley BA, et al. Mol Cell. 2023 Jul 6;83(13):2258-2275.e11. doi: 10.1016/j.molcel.2023.06.011. Epub 2023 Jun 26. Mol Cell. 2023. PMID: 37369199 Free PMC article.
The pre-mRNA life cycle requires intron processing; yet, how intron-processing defects influence splicing and gene expression is unclear. Here, we find that TTDN1/MPLKIP, which is encoded by a gene implicated in non-photosensitive trichothiodystrophy (NP-TTD), functionally …
The pre-mRNA life cycle requires intron processing; yet, how intron-processing defects influence splicing and gene expression is unclear. He …
Integrated analysis of the microbiome and transcriptome in stomach adenocarcinoma.
Zhou D, Xiong S, Xiong J, Deng X, Long Q, Li Y. Zhou D, et al. Open Life Sci. 2023 Jul 15;18(1):20220528. doi: 10.1515/biol-2022-0528. eCollection 2023. Open Life Sci. 2023. PMID: 37465100 Free PMC article.
In total, 74 prognostic genes were screened from 925 feature genes of the subtypes, among which five genes were identified for prognostic model construction, including NTN5, MPV17L, MPLKIP, SIGLEC5, and SPAG16. The prognostic model could stratify patients into different ri …
In total, 74 prognostic genes were screened from 925 feature genes of the subtypes, among which five genes were identified for prognostic mo …
Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.
Rasheed M, Shahzad S, Zaeem A, Afzal I, Gul A, Khalid S. Rasheed M, et al. Arch Dermatol Res. 2017 Dec;309(10):773-785. doi: 10.1007/s00403-017-1780-x. Epub 2017 Sep 14. Arch Dermatol Res. 2017. PMID: 28913623 Review.
The known pathogenic molecules involved in ichthyosis syndromes with prominent hair abnormalities include SPINK5, ERCC2, ERCC3, GTF2H5, MPLKIP, ST14, CLDN1 and MBTPS2. Despite underlying genetic origin, most of the health professionals solely rely on phenotypic expression …
The known pathogenic molecules involved in ichthyosis syndromes with prominent hair abnormalities include SPINK5, ERCC2, ERCC3, GTF2H5, M …
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. La Serna-Infantes J, et al. Eur J Med Genet. 2018 Jul;61(7):388-392. doi: 10.1016/j.ejmg.2018.02.004. Epub 2018 Feb 5. Eur J Med Genet. 2018. PMID: 29421601
Trichothiodystrophy type 4 is a rare autosomal recessive and ectodermal disorder, characterized by dry, brittle, sparse and sulfur-deficient hair and other features like intellectual disability, ichthyotic skin and short stature, caused by a homozygous mutation in MPLKIP g …
Trichothiodystrophy type 4 is a rare autosomal recessive and ectodermal disorder, characterized by dry, brittle, sparse and sulfur-deficient …
18 results