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Page 1
SMC1A epilepsy syndrome: clinical data from a large international cohort.
Gibellato E, Cianci P, Mariani M, Parma B, Huisman S, Śmigiel R, Bisgaard AM, Massa V, Gervasini C, Moretti A, Cattoni A, Biondi A, Selicorni A. Gibellato E, et al. Am J Med Genet A. 2024 Jul;194(7):e63577. doi: 10.1002/ajmg.a.63577. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421079
SMC1A epilepsy syndrome or developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85, OMIM #301044) is an X-linked neurologic disorder associated with mutations of the SMC1A gene, which is also responsible for about 5% of patients af …
SMC1A epilepsy syndrome or developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85, OMIM #301044) …
The multiple facets of the SMC1A gene.
Musio A. Musio A. Gene. 2020 Jun 15;743:144612. doi: 10.1016/j.gene.2020.144612. Epub 2020 Mar 25. Gene. 2020. PMID: 32222533 Free PMC article. Review.
It is also a component of the Recombination protein complex (RC-1) involved in DNA repair by recombination. SMC1A pathogenic variants have been described in Cornelia de Lange syndrome (CdLS), a human rare disease, and recently SMC1A variants have been associated wit …
It is also a component of the Recombination protein complex (RC-1) involved in DNA repair by recombination. SMC1A pathogenic variants …
SMC1A facilitates gastric cancer cell proliferation, migration, and invasion via promoting SNAIL activated EMT.
Liu Y, Fang X, Wang Q, Xiao D, Zhou T, Kang K, Peng Z, Ren F, Zhou J. Liu Y, et al. BMC Gastroenterol. 2023 Aug 4;23(1):268. doi: 10.1186/s12876-023-02850-z. BMC Gastroenterol. 2023. PMID: 37537540 Free PMC article.
Recent studies demonstrated that SMC1A participates in tumorigenesis. This reseach aims to explore the role and the underlying mechanisms of SMC1A in gastric cancer (GC). ...Furthermore,the mechanism of SMC1A action was investigated. RESULTS: SMC1A was …
Recent studies demonstrated that SMC1A participates in tumorigenesis. This reseach aims to explore the role and the underlying mechan …
Effects of SMC1A on immune microenvironment and cancer stem cells in colon adenocarcinoma.
Li J, Zhou Q, Liu L, He J. Li J, et al. Cancer Med. 2023 Jun;12(11):12881-12895. doi: 10.1002/cam4.5891. Epub 2023 Apr 25. Cancer Med. 2023. PMID: 37096492 Free PMC article.
RESULTS: The mRNA and protein levels of SMC1A were increased in colon adenocarcinoma (COAD) samples. SMC1A was associated with DNA activity. ...Furthermore, we also found that SMC1A plays a positive correlation with the induction of cancer stem cells (CSCs). …
RESULTS: The mRNA and protein levels of SMC1A were increased in colon adenocarcinoma (COAD) samples. SMC1A was associated with …
X-Linked Epilepsies: A Narrative Review.
Bernardo P, Cuccurullo C, Rubino M, De Vita G, Terrone G, Bilo L, Coppola A. Bernardo P, et al. Int J Mol Sci. 2024 Apr 8;25(7):4110. doi: 10.3390/ijms25074110. Int J Mol Sci. 2024. PMID: 38612920 Free PMC article. Review.
In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19-related DEE, CDKL5-related DEE, MECP2-related disorders), forms of epilepsy related to X-linked neuronal migration disorders (e.g., ARX, DCX …
In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19- …
The sex-biased chromatin modifier SMC1A promotes autoimmunity by shaping inflammatory pathways in patients with SLE.
Kosmara D, Papanikolaou S, Stathopoulou C, Papamatheakis D, Vatsellas G, Cimmarrusti A, Banos A, Sidiropoulos P, Lavigne MD, Verginis P, Boumpas D, Spilianakis C, Konstantopoulos D, Nikolaou C, Bertsias G. Kosmara D, et al. Nat Commun. 2025 Nov 24;16(1):10350. doi: 10.1038/s41467-025-65309-7. Nat Commun. 2025. PMID: 41285778 Free PMC article.
Integration of SMC1A binding, chromatin activity, and accessibility in lupus-like monocytes reveals extensive SMC1A redistribution to active enhancers of immune/inflammatory genes, inducing their transcription. SLE monocyte transcriptomes demonstrate significant enr …
Integration of SMC1A binding, chromatin activity, and accessibility in lupus-like monocytes reveals extensive SMC1A redistribu …
The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer.
Di Nardo M, Astigiano S, Baldari S, Pallotta MM, Porta G, Pigozzi S, Antonini A, Emionite L, Frattini A, Valli R, Toietta G, Soddu S, Musio A. Di Nardo M, et al. J Exp Clin Cancer Res. 2024 Feb 16;43(1):49. doi: 10.1186/s13046-024-02976-2. J Exp Clin Cancer Res. 2024. PMID: 38365745 Free PMC article.
BACKGROUND: SMC1A is a subunit of the cohesin complex that participates in many DNA- and chromosome-related biological processes. ...This study aimed to investigate whether SMC1A could serve as a therapeutic target for CRC. METHODS: At first, we studied the effects …
BACKGROUND: SMC1A is a subunit of the cohesin complex that participates in many DNA- and chromosome-related biological processes. ... …
Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.
Mannini L, Liu J, Krantz ID, Musio A. Mannini L, et al. Hum Mutat. 2010 Jan;31(1):5-10. doi: 10.1002/humu.21129. Hum Mutat. 2010. PMID: 19842212 Free PMC article. Review.
SMC1A mutations have also been identified in colorectal cancers. So far a total of 26 different mutations of the SMC1A gene have been reported. ...In this review, we summarize the current knowledge of SMC1A mutations....
SMC1A mutations have also been identified in colorectal cancers. So far a total of 26 different mutations of the SMC1A gene ha …
SMC1A recruits tumor-associated-fibroblasts (TAFs) and promotes colorectal cancer metastasis.
Zhou P, Xiao N, Wang J, Wang Z, Zheng S, Shan S, Wang J, Du J, Wang J. Zhou P, et al. Cancer Lett. 2017 Jan 28;385:39-45. doi: 10.1016/j.canlet.2016.10.041. Epub 2016 Nov 4. Cancer Lett. 2017. PMID: 27826041
During cancer colonization, seed cells from primary tumor can reconstruct the microenvironment by recruiting circulating cancer cells and TAFs to the metastasis site. Previous studies have established that SMC1A, a subunit of cohesin, is an important trigger signal for liv …
During cancer colonization, seed cells from primary tumor can reconstruct the microenvironment by recruiting circulating cancer cells and TA …
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.
Bozarth XL, Lopez J, Fang H, Lee-Eng J, Duan Z, Deng X. Bozarth XL, et al. Genes (Basel). 2023 Mar 31;14(4):852. doi: 10.3390/genes14040852. Genes (Basel). 2023. PMID: 37107610 Free PMC article.
It is unclear how different SMC1A variants cause CdLS or DEE. Here, we report on phenotypes and genotypes of three females with DEE and de novo SMC1A variants, including a novel splice-site variant. ...Along with the characterization of X-chromosome inactivation (XC …
It is unclear how different SMC1A variants cause CdLS or DEE. Here, we report on phenotypes and genotypes of three females with DEE a …
322 results