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 Custom Filters

Results by year

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

Year Number of Results
1994 1
1995 8
1996 7
1997 11
1998 8
1999 7
2000 13
2001 13
2002 8
2003 11
2004 19
2005 14
2006 14
2007 24
2008 23
2009 14
2010 14
2011 14
2012 17
2013 20
2014 14
2015 17
2016 18
2017 17
2018 30
2019 19
2020 32
2021 22
2022 32
2023 24
2024 28
2025 13

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

476 results

Results by year

Filters applied: . Clear all
Page 1
The novel multiple sclerosis susceptibility gene ATXN1 regulates B cell receptor signaling in B-1a cells.
Ma Q, Didonna A. Ma Q, et al. Mol Brain. 2021 Jan 21;14(1):19. doi: 10.1186/s13041-020-00715-0. Mol Brain. 2021. PMID: 33478569 Free PMC article.
Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system (CNS) caused by complex gene-environment interactions. ATXN1 maps to 6p22.3, within the 233 loci associated with an increased risk of developing MS. ...Importantly, we show …
Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system (CNS) caused by complex gene-environment …
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH, Moisse M, van Vugt JJFA, Zwamborn RAJ, van der Spek R, van Rheenen W, Van Eijk K, Kenna K, Corcia P, Vourc'h P, Couratier P, Hardiman O, McLaughin R, Gotkine M, Drory V, Ticozzi N, Silani V, Ratti A, de Carvalho M, Mora Pardina JS, Povedano M, Andersen PM, Weber M, Başak NA, Shaw C, Shaw PJ, Morrison KE, Landers JE, Glass JD, van Es MA, van den Berg LH, Al-Chalabi A, Veldink J, Van Damme P. Van Daele SH, et al. Brain. 2023 Sep 1;146(9):3760-3769. doi: 10.1093/brain/awad120. Brain. 2023. PMID: 37043475 Free PMC article.
With the advent of gene therapies for amyotrophic lateral sclerosis (ALS), there is a surge in gene testing for this disease. Although there is ample experience with gene testing for C9orf72, SOD1, FUS and TARDBP in familial ALS, large studies exploring genet …
With the advent of gene therapies for amyotrophic lateral sclerosis (ALS), there is a surge in gene testing for this disease. …
Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.
Xu F, Viaene AN, Ruiz J, Schubert J, Wu J, Chen J, Cao K, Fu W, Bagatell R, Fan Z, Long A, Pagliaroli L, Zhong Y, Luo M, Kreiger PA, Surrey LF, Wertheim GB, Cole KA, Li MM, Santi M, Storm PB. Xu F, et al. Acta Neuropathol Commun. 2022 Jul 14;10(1):102. doi: 10.1186/s40478-022-01401-z. Acta Neuropathol Commun. 2022. PMID: 35836290 Free PMC article.
CIC-rearranged sarcomas are newly defined undifferentiated soft tissue tumors with CIC-associated fusions, and dismal prognosis. CIC fusions activate PEA3 family genes, ETV1/4/5, leading to tumorigenesis and progression. We report two high-grade CNS sarcomas of unclear his …
CIC-rearranged sarcomas are newly defined undifferentiated soft tissue tumors with CIC-associated fusions, and dismal prognosis. CIC fusions …
Intranuclear inclusions of polyQ-expanded ATXN1 sequester RNA molecules.
Gkekas I, Vagiona AC, Pechlivanis N, Kastrinaki G, Pliatsika K, Iben S, Xanthopoulos K, Psomopoulos FE, Andrade-Navarro MA, Petrakis S. Gkekas I, et al. Front Mol Neurosci. 2023 Dec 6;16:1280546. doi: 10.3389/fnmol.2023.1280546. eCollection 2023. Front Mol Neurosci. 2023. PMID: 38125008 Free PMC article.
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease caused by a trinucleotide (CAG) repeat expansion in the ATXN1 gene. It is characterized by the presence of polyglutamine (polyQ) intranuclear inclusion bodies (IIBs) within affec …
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease caused by a trinucleotide (CAG) repeat expansion in …
Integrated analysis supports ATXN1 as a schizophrenia risk gene.
Liu J, Su B. Liu J, et al. Schizophr Res. 2018 May;195:298-305. doi: 10.1016/j.schres.2017.10.010. Epub 2017 Oct 19. Schizophr Res. 2018. PMID: 29055568
With the use of an integrated approach combining PPI information with pathway and expression analysis as well as genome-wide association study (GWAS), we intended to find new risk genes for schizophrenia (SCZ). We showed that ATXN1 was the only direct PPI partner of …
With the use of an integrated approach combining PPI information with pathway and expression analysis as well as genome-wide association stu …
Regenerative potential of prostate luminal cells revealed by single-cell analysis.
Karthaus WR, Hofree M, Choi D, Linton EL, Turkekul M, Bejnood A, Carver B, Gopalan A, Abida W, Laudone V, Biton M, Chaudhary O, Xu T, Masilionis I, Manova K, Mazutis L, Pe'er D, Regev A, Sawyers CL. Karthaus WR, et al. Science. 2020 May 1;368(6490):497-505. doi: 10.1126/science.aay0267. Science. 2020. PMID: 32355025 Free PMC article.
Using single-cell RNA sequencing, we identified a rare luminal population in the mouse prostate that expresses stemlike genes (Sca1 (+) and Psca (+)) and a large population of differentiated cells (Nkx3.1 (+), Pbsn (+)). ...
Using single-cell RNA sequencing, we identified a rare luminal population in the mouse prostate that expresses stemlike genes (Sca1 ( …
Whole-genome landscape of adult T-cell leukemia/lymphoma.
Kogure Y, Kameda T, Koya J, Yoshimitsu M, Nosaka K, Yasunaga JI, Imaizumi Y, Watanabe M, Saito Y, Ito Y, McClure MB, Tabata M, Shingaki S, Yoshifuji K, Chiba K, Okada A, Kakiuchi N, Nannya Y, Kamiunten A, Tahira Y, Akizuki K, Sekine M, Shide K, Hidaka T, Kubuki Y, Kitanaka A, Hidaka M, Nakano N, Utsunomiya A, Sica RA, Acuna-Villaorduna A, Janakiram M, Shah U, Ramos JC, Shibata T, Takeuchi K, Takaori-Kondo A, Miyazaki Y, Matsuoka M, Ishitsuka K, Shiraishi Y, Miyano S, Ogawa S, Ye BH, Shimoda K, Kataoka K. Kogure Y, et al. Blood. 2022 Feb 17;139(7):967-982. doi: 10.1182/blood.2021013568. Blood. 2022. PMID: 34695199 Free PMC article.
In the non-coding genome, we identified recurrent mutations in regulatory elements, particularly splice sites, of several driver genes. In addition, we characterized the different mutational processes operative in clustered hypermutation sites within and outside immunoglob …
In the non-coding genome, we identified recurrent mutations in regulatory elements, particularly splice sites, of several driver genes …
Cas9 editing of ATXN1 in a spinocerebellar ataxia type 1 mice and human iPSC-derived neurons.
Fagan KJ, Chillon G, Carrell EM, Waxman EA, Davidson BL. Fagan KJ, et al. Mol Ther Nucleic Acids. 2024 Aug 31;35(4):102317. doi: 10.1016/j.omtn.2024.102317. eCollection 2024 Dec 10. Mol Ther Nucleic Acids. 2024. PMID: 39314800 Free PMC article.
Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by an expansion of the CAG repeat region of the ATXN1 gene. Currently there are no disease-modifying treatments; however, previous work has shown the potential of gene the …
Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by an expansion of the CAG repeat region of the A …
Combined overexpression of ATXN1L and mutant ATXN1 knockdown by AAV rescue motor phenotypes and gene signatures in SCA1 mice.
Carrell EM, Keiser MS, Robbins AB, Davidson BL. Carrell EM, et al. Mol Ther Methods Clin Dev. 2022 Apr 12;25:333-343. doi: 10.1016/j.omtm.2022.04.004. eCollection 2022 Jun 9. Mol Ther Methods Clin Dev. 2022. PMID: 35573049 Free PMC article.
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease caused by a (CAG) repeat expansion in the coding sequence of ATXN1. The primary mechanism of disease in SCA1 is toxic gain of function by polyglutamine-expanded mutant ATXN1 and …
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease caused by a (CAG) repeat expansion in the coding seq …
UTteR control through miRs: fine-tuning ATXN1 levels to prevent ataxia.
Xie M, Swanson MS. Xie M, et al. Genes Dev. 2020 Sep 1;34(17-18):1107-1109. doi: 10.1101/gad.343020.120. Genes Dev. 2020. PMID: 32873576 Free PMC article. Review.
Another striking example of this mutant and WT duality is spinocerebellar ataxia type 1 (SCA1) caused by an ATXN1 polyglutamine protein, although subtle variations in WT AXTN1 levels also lead to ataxia. In this issue of Genes & Development, Nitschke and colleag …
Another striking example of this mutant and WT duality is spinocerebellar ataxia type 1 (SCA1) caused by an ATXN1 polyglutamine prote …
476 results