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SMARCA4: Implications of an Altered Chromatin-Remodeling Gene for Cancer Development and Therapy.
Mardinian K, Adashek JJ, Botta GP, Kato S, Kurzrock R. Mardinian K, et al. Mol Cancer Ther. 2021 Dec;20(12):2341-2351. doi: 10.1158/1535-7163.MCT-21-0433. Epub 2021 Oct 12. Mol Cancer Ther. 2021. PMID: 34642211 Free PMC article. Review.
The SMARCA4 (BRG1) subunit codes for the ATPase energy engine of the SWI/SNF complex. SMARCA4 is a tumor suppressor that is aberrant in 5% to 7% of human malignancies. Class I SMARCA4 alterations (truncating mutations, fusions, and homozygous deletion) lead to loss of func …
The SMARCA4 (BRG1) subunit codes for the ATPase energy engine of the SWI/SNF complex. SMARCA4 is a tumor suppressor that is aberrant in 5% t …
"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma".
Cárcamo B, Masotto B, Baquero-Vaquer A, Ceballos-Saenz D, Zapata-Aldana E. Cárcamo B, et al. Eur J Med Genet. 2022 Nov;65(11):104600. doi: 10.1016/j.ejmg.2022.104600. Epub 2022 Aug 29. Eur J Med Genet. 2022. PMID: 36049608 Review.
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic variants in the BAF complex with 341 cases enrolled in the CSS/BAF-related disorders registry b …
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and …
Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature.
Ciliberto M, Skjei K, Vasko A, Schrier Vergano S. Ciliberto M, et al. Am J Med Genet A. 2023 Jan;191(1):22-28. doi: 10.1002/ajmg.a.62979. Epub 2022 Sep 30. Am J Med Genet A. 2023. PMID: 36177969 Review.
Coffin-Siris syndrome (CSS, MIM135900) is a rare multiple congenital anomaly syndrome caused by pathogenic variants in the BAF complex; up to 28% of patients have previously been reported to have seizures, however, a comprehensive review of epilepsy has not b …
Coffin-Siris syndrome (CSS, MIM135900) is a rare multiple congenital anomaly syndrome caused by pathogenic variants in …
ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review.
Xia D, Deng S, Gao C, Li X, Zhang L, Xiao X, Peng X, Zhang J, He Z, Meng Z, Liu Z, Ouyang N, Liang L. Xia D, et al. Am J Med Genet A. 2023 May;191(5):1240-1249. doi: 10.1002/ajmg.a.63139. Epub 2023 Feb 9. Am J Med Genet A. 2023. PMID: 36756859 Review.
Coffin-Siris syndrome (CSS) 6 is caused by heterozygous pathogenic variants in the AT-rich interaction domain 2 (ARID2) gene on 12q12. ...Microdeletions of the entire ARID2 gene are rare. In this study, we report a 5-year-7-month-old Chinese female who …
Coffin-Siris syndrome (CSS) 6 is caused by heterozygous pathogenic variants in the AT-rich interaction domain 2 (ARID2) …
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.
Tzeng M, du Souich C, Cheung HW, Boerkoel CF. Tzeng M, et al. Am J Med Genet A. 2014 Jul;164A(7):1808-14. doi: 10.1002/ajmg.a.36533. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700502 Free PMC article. Review.
Coffin-Siris Syndrome (CSS) is an intellectual disability disorder caused by mutation of components of the SWI/SNF chromatin-remodeling complex. We describe the evolution of the phenotypic features for a male patient with CSS from birth to age 7 years …
Coffin-Siris Syndrome (CSS) is an intellectual disability disorder caused by mutation of components of the SWI/SNF chro …
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
Santen GW, Kriek M, van Attikum H. Santen GW, et al. Epigenetics. 2012 Nov;7(11):1219-24. doi: 10.4161/epi.22299. Epub 2012 Sep 25. Epigenetics. 2012. PMID: 23010866 Free PMC article. Review.
Heterozygous germline mutations in components of switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complexes were recently identified in patients with non-syndromic intellectual disability, Coffin-Siris syndrome and Nicolaides-Baraitser syndrome. Th …
Heterozygous germline mutations in components of switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complexes were recently identif …