Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2006 1
2007 2
2008 1
2009 9
2010 20
2011 15
2012 13
2013 18
2014 23
2015 6
2016 9
2017 9
2018 7
2019 6
2020 10
2021 14
2022 7
2023 10
2024 9

Text availability

Article attribute

Article type

Publication date

Search Results

160 results

Results by year

Filters applied: . Clear all
Page 1
Dystonia.
Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP. Balint B, et al. Nat Rev Dis Primers. 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. Nat Rev Dis Primers. 2018. PMID: 30237473 Review.
These disorders differ in manifestations and severity but can affect all age groups and lead to substantial disability and impaired quality of life. The discovery of genes underlying the mendelian forms of isolated or combined dystonia has led to a better understanding of …
These disorders differ in manifestations and severity but can affect all age groups and lead to substantial disability and impaired quality …
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Erogullari A, Hollstein R, Seibler P, Braunholz D, Koschmidder E, Depping R, Eckhold J, Lohnau T, Gillessen-Kaesbach G, Grünewald A, Rakovic A, Lohmann K, Kaiser FJ. Erogullari A, et al. Biochim Biophys Acta. 2014 Nov;1839(11):1196-204. doi: 10.1016/j.bbagrm.2014.07.019. Epub 2014 Aug 1. Biochim Biophys Acta. 2014. PMID: 25088175
Here, we investigated whether THAP1 is able to autoregulate its own expression. Using in-silico prediction, luciferase reporter gene assays, and (quantitative) chromatin immunoprecipitation (ChIP), we defined the THAP1 minimal promoter to a 480bp-fragment and …
Here, we investigated whether THAP1 is able to autoregulate its own expression. Using in-silico prediction, luciferase reporter ge …
Genetics and Pathogenesis of Dystonia.
Thomsen M, Lange LM, Zech M, Lohmann K. Thomsen M, et al. Annu Rev Pathol. 2024 Jan 24;19:99-131. doi: 10.1146/annurev-pathmechdis-051122-110756. Epub 2023 Sep 22. Annu Rev Pathol. 2024. PMID: 37738511 Free article. Review.
On the molecular level, more than a handful of, often intertwined, pathways have been linked to pathogenic variants in dystonia genes, including gene transcription during neurodevelopment (e.g., KMT2B, THAP1), calcium homeostasis (e.g., ANO3, HPCA), striatal …
On the molecular level, more than a handful of, often intertwined, pathways have been linked to pathogenic variants in dystonia genes …
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
Blanchard A, Ea V, Roubertie A, Martin M, Coquart C, Claustres M, Béroud C, Collod-Béroud G. Blanchard A, et al. Hum Mutat. 2011 Nov;32(11):1213-24. doi: 10.1002/humu.21564. Epub 2011 Sep 15. Hum Mutat. 2011. PMID: 21793105 Free article. Review.
Currently, 56 families present with a THAP1 mutation; however, no genotype/phenotype relationship has been found. Therefore, we carried out a systematic review of the literature on the THAP1 gene to colligate all reported patients with a specific THAP1 …
Currently, 56 families present with a THAP1 mutation; however, no genotype/phenotype relationship has been found. Therefore, we carri …
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.
Diaw SH, Delcambre S, Much C, Ott F, Kostic VS, Gajos A, Münchau A, Zittel S, Busch H, Grünewald A, Klein C, Lohmann K. Diaw SH, et al. Neurogenetics. 2024 Apr;25(2):141-147. doi: 10.1007/s10048-024-00752-0. Epub 2024 Mar 18. Neurogenetics. 2024. PMID: 38498291
Dystonia due to pathogenic variants in the THAP1 gene (DYT-THAP1) shows variable expressivity and reduced penetrance of ~ 50%. Since THAP1 encodes a transcription factor, modifiers influencing this variability likely operate at the gene expressi …
Dystonia due to pathogenic variants in the THAP1 gene (DYT-THAP1) shows variable expressivity and reduced penetrance of …
The dystonia gene THAP1 controls DNA double-strand break repair choice.
Shinoda K, Zong D, Callen E, Wu W, Dumitrache LC, Belinky F, Chari R, Wong N, Ishikawa M, Stanlie A, Multhaupt-Buell T, Sharma N, Ozelius L, Ehrlich M, McKinnon PJ, Nussenzweig A. Shinoda K, et al. Mol Cell. 2021 Jun 17;81(12):2611-2624.e10. doi: 10.1016/j.molcel.2021.03.034. Epub 2021 Apr 14. Mol Cell. 2021. PMID: 33857404 Free PMC article.
Here, we report that the transcription factors THAP1, YY1, and HCF1 bind directly to the SHLD1 promoter, where they cooperatively maintain the low basal expression of SHLD1, thereby ensuring a proper balance between end protection and resection during DSB repair. The loss …
Here, we report that the transcription factors THAP1, YY1, and HCF1 bind directly to the SHLD1 promoter, where they cooperatively mai …
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
Cheng F, Zheng W, Barbuti PA, Bonsi P, Liu C, Casadei N, Ponterio G, Meringolo M, Admard J, Dording CM, Yu-Taeger L, Nguyen HP, Grundmann-Hauser K, Ott T, Houlden H, Pisani A, Krüger R, Riess O. Cheng F, et al. Brain. 2022 Nov 21;145(11):3968-3984. doi: 10.1093/brain/awac001. Brain. 2022. PMID: 35015830
However, how THAP1 mutations lead to these gene expression alterations and whether the gene expression changes are also reflected in the brain of THAP1 patients are still unclear. ...We observed that THAP1 targeted only a minority of differentia …
However, how THAP1 mutations lead to these gene expression alterations and whether the gene expression changes are also …
Novel THAP1 gene mutations in patients with primary dystonia from southwest China.
Song W, Chen Y, Huang R, Chen K, Pan P, Yang Y, Shang HF. Song W, et al. J Neurol Sci. 2011 Oct 15;309(1-2):63-7. doi: 10.1016/j.jns.2011.07.023. Epub 2011 Aug 11. J Neurol Sci. 2011. PMID: 21839475
CONCLUSION: The mutation frequency of the THAP1 gene was 0.87% in Chinese patients with primary pure dystonia, similar to the mutation frequency found in other ethnic groups. Patients presenting with early-onset cervical dystonia should be screened for THAP1 …
CONCLUSION: The mutation frequency of the THAP1 gene was 0.87% in Chinese patients with primary pure dystonia, similar to the …
Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes.
Frederick NM, Shah PV, Didonna A, Langley MR, Kanthasamy AG, Opal P. Frederick NM, et al. Hum Mol Genet. 2019 Apr 15;28(8):1343-1356. doi: 10.1093/hmg/ddy433. Hum Mol Genet. 2019. PMID: 30590536 Free PMC article.
While germ-line deletion of Thap1 is embryonic lethal, mice lacking one Thap1 allele-which in principle should recapitulate the haploinsufficiency of the human syndrome-do not show a discernable phenotype. This is because mice show autoregulation of Thap1 mRN …
While germ-line deletion of Thap1 is embryonic lethal, mice lacking one Thap1 allele-which in principle should recapitulate th …
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K. Kaiser FJ, et al. Ann Neurol. 2010 Oct;68(4):554-9. doi: 10.1002/ana.22157. Ann Neurol. 2010. PMID: 20976771
Mutations in THAP1 have been associated with dystonia 6. THAP1 encodes a transcription factor with mostly unknown targets. We tested the hypothesis that THAP1 regulates the expression of DYT1 (TOR1A), another dystonia-causing gene. After characterizati …
Mutations in THAP1 have been associated with dystonia 6. THAP1 encodes a transcription factor with mostly unknown targets. We …
160 results