| Structural Variants in the SMC1A Gene Associated With Near-Haploidy in Undifferentiated Pleomorphic Sarcomas. | Structural Variants in the SMC1A Gene Associated With Near-Haploidy in Undifferentiated Pleomorphic Sarcomas.
Ibstedt S, Piccinelli P, Sydow S, Köster J, Mertens F. | 08/20/2024 |
| AKT/FOXM1/STMN1 signaling pathway activation by SMC1A promotes tumor growth in breast cancer. | AKT/FOXM1/STMN1 signaling pathway activation by SMC1A promotes tumor growth in breast cancer.
Li K, Dai P, Li J, Liu L, Cheng S, Fang Q, Wu B. | 03/1/2024 |
| SMC1A facilitates gastric cancer cell proliferation, migration, and invasion via promoting SNAIL activated EMT. | 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., Free PMC Article | 08/7/2023 |
| PIK3R3 is upregulated in liver cancer and activates Akt signaling to control cancer growth by regulation of CDKN1C and SMC1A. | PIK3R3 is upregulated in liver cancer and activates Akt signaling to control cancer growth by regulation of CDKN1C and SMC1A.
Lin W, Wang K, Mo J, Wang L, Song Z, Jiang H, Wang C, Jin C., Free PMC Article | 07/23/2023 |
| Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy. | 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., Free PMC Article | 05/5/2023 |
| Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome. | Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.
Barañano KW, Kimball A, Fong SL, Egense AS, Hudon C, Kline AD. | 05/21/2022 |
| Cohesin promotes HSV-1 lytic transcription by facilitating the binding of RNA Pol II on viral genes. | Cohesin promotes HSV-1 lytic transcription by facilitating the binding of RNA Pol II on viral genes.
Li X, Yu Y, Lang F, Chen G, Wang E, Li L, Li Z, Yang L, Cao X, Fraser NW, Zhou J., Free PMC Article | 09/4/2021 |
| Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature. | Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature.
Türkyilmaz A, Türkdoğan D, Görmez Z, Ekinci G. | 06/19/2021 |
| A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation. | A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.
Gonzalez Garcia A, Malone J, Li H., Free PMC Article | 05/29/2021 |
| Significant phenotypical behavioral differences between individuals with de Lange syndrome caused by SMC1A variants and those caused by NIPBL variants. | Development, behaviour and autism in individuals with SMC1A variants.
Mulder PA, Huisman S, Landlust AM, Moss J, SMC1A Consortium, Piening S, Hennekam RC, van Balkom IDC. | 07/25/2020 |
| Holoprosencephaly is associate with variants in the two X-linked cohesin complex genes, SMC1A and STAG2. | Cohesin complex-associated holoprosencephaly.
Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M., Free PMC Article | 05/16/2020 |
| NEAT1 repressed the expression of miR-23a-3p, and therefore promoted SMC1A, which in turn suppressed myeloid leukemia cell proliferation and enhanced apoptosis | Long noncoding RNA NEAT1 modulates cell proliferation and apoptosis by regulating miR-23a-3p/SMC1A in acute myeloid leukemia.
Zhao C, Wang S, Zhao Y, Du F, Wang W, Lv P, Qi L. | 03/28/2020 |
| Knockdown of CRL7(SMU1) components or loss of H2B ubiquitylation leads to defective sister chromatid cohesion, which is rescued by restoration of SMC1a expression. | CRL7(SMU1) E3 ligase complex-driven H2B ubiquitylation functions in sister chromatid cohesion by regulating SMC1 expression.
Shah VJ, Maddika S., Free PMC Article | 12/7/2019 |
| observations suggest that phosphorylation of SMC1A is a vital event in tumorigenesis and disease progression in hepatocellular carcinoma thus necessitating further investigation. | Phosphorylation of SMC1A promotes hepatocellular carcinoma cell proliferation and migration.
Zhang Y, Yi F, Wang L, Wang Z, Zhang N, Wang Z, Li Z, Song X, Wei S, Cao L., Free PMC Article | 08/17/2019 |
| SMC1A up-regulation is associated with recurrence, radioresistance and metastasis in prostate cancer. | SMC1A is associated with radioresistance in prostate cancer and acts by regulating epithelial-mesenchymal transition and cancer stem-like properties.
Yadav S, Kowolik CM, Lin M, Zuro D, Hui SK, Riggs AD, Horne DA., Free PMC Article | 07/6/2019 |
| we showed that SMC1A cohesin core gene was present as extra-copies, mutated, and overexpressed in human colorectal carcinomas | Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development.
Sarogni P, Palumbo O, Servadio A, Astigiano S, D'Alessio B, Gatti V, Cukrov D, Baldari S, Pallotta MM, Aretini P, Dell'Orletta F, Soddu S, Carella M, Toietta G, Barbieri O, Fontanini G, Musio A., Free PMC Article | 06/15/2019 |
| SMC1A mutation is associated with Cornelia de Lange syndrome. | Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo.
Cukrov D, Newman TAC, Leask M, Leeke B, Sarogni P, Patimo A, Kline AD, Krantz ID, Horsfield JA, Musio A. | 03/9/2019 |
| Both the SMC1A and SMC3 gene mutation tests were negative in all Chinese patients with Cornelia de Lange syndrome. | Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.
Hei M, Gao X, Wu L., Free PMC Article | 08/11/2018 |
| maintenance of the cancer cell state is dependent on recruitment of Mediator and Cohesin through FOXA and master transcription factors | FOXA and master transcription factors recruit Mediator and Cohesin to the core transcriptional regulatory circuitry of cancer cells.
Fournier M, Bourriquen G, Lamaze FC, Côté MC, Fournier É, Joly-Beauparlant C, Caron V, Gobeil S, Droit A, Bilodeau S., Free PMC Article | 06/30/2018 |
| We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group suggest that a disturbed cohesin function contributes to the phenotype, but differences between these groups may also be explained by other underlying mechanisms such as moonlighting of the cohesin genes. | Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC. | 12/2/2017 |
| All the nine probands with syndromic craniosynostosis were found to carry the possibly causative variants, among which three variants including two missense mutations in IFT122 gene, in SMC1A gene and a frameshift mutation in TWIST1 gene have never been reported in patients before. | Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.
Xu Y, Sun S, Li N, Yu T, Wang X, Wang J, Bao N. | 11/26/2017 |
| Based on these findings, LVNC cardiomyopathy and cleft lip should be considered features of SMC1A-associated CdLS. All patients should receive echocardiogram and undergo thorough ophthalmologic evaluation as part of routine CdLS care. | Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
Wenger TL, Chow P, Randle SC, Rosen A, Birgfeld C, Wrede J, Javid P, King D, Manh V, Hing AV, Albers E. | 10/28/2017 |
| Elevated expression of SMC1A in colorectal cancer cells promoted liver metastasis by recruiting the circulating tumor-associated fibroblasts. | 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. | 08/12/2017 |
| This study demonstrated that Truncation mutations in SMC1A cause a severe epilepsy phenotype with cluster seizures in females. | Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse WP, DDD Study, Zuberi SM. | 07/1/2017 |
| Our data show the existence of a novel phenotypic entity - distinct from Cornelia de Lange syndrome - and caused by de novo SMC1A loss-of-function mutations | De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.
Jansen S, Kleefstra T, Willemsen MH, de Vries P, Pfundt R, Hehir-Kwa JY, Gilissen C, Veltman JA, de Vries BB, Vissers LE. | 07/1/2017 |