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zebrafish embryos and SMC1A-mutated pa (show NIPBL Proteins)tient-derived fibroblasts were used to analyze abnormalities induced by SMC1A loss of function
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.
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 (show IFT122 Proteins) gene, in SMC1A gene and a frameshift mutation in TWIST1 (show TWIST1 Proteins) gene have never been reported in patients before.
Based on these findings, LVNC cardiomyopathy and cleft lip should be considered features of SMC1A-associated CdLS (show NIPBL Proteins). All patients should receive echocardiogram and undergo thorough ophthalmologic evaluation as part of routine CdLS (show NIPBL Proteins) care.
Elevated expression of SMC1A in colorectal cancer cells promoted liver metastasis by recruiting the circulating tumor-associated fibroblasts.
This study demonstrated that Truncation mutations in SMC1A cause a severe epilepsy phenotype with cluster seizures in females.
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
We identified a large number of mutations in the CC region of both Smc1 and Smc3 (show SMC3 Proteins)... we introduced them to the yeast Smc1 and Smc3 (show SMC3 Proteins) CC domains and characterized the effect of these mutant alleles on cohesin's function. We identified a missense mutation in the region of the kink domain of Smc3 (show SMC3 Proteins), which was previously identified in kidney carcinoma.
High SMC1A expression is associated with prostate cancer.
Results showed that the high expression of SMC1 often promoted epithelial-mesenchymal transition, accompanied by the enhanced expression of Brachyury (show TBX1 Proteins) in triple-negative breast cancer cells.
SMC1A plays an oncogenic role in colorectal cancer.
To decipher the functions of the two meiosis-specific kleisins, REC8 (show REC8 Proteins) or RAD21L (show RAD21L1 Proteins), together with the only meiosis-specific SMC protein SMC1b (show SMC1B Proteins), we generated Smc1b (show SMC1B Proteins)-/-Rec8 (show REC8 Proteins)-/- and Smc1b (show SMC1B Proteins)-/-Rad21L (show RAD21L1 Proteins)-/- mouse mutants.
expression analysis of Smc1a and Nipbl (show NIPBL Proteins) in developing mouse embryos reveals a specific pattern in the hindbrain
SMC1A participates in tissue-specific enhancer-promoter interactions and interactions that demarcate regions of correlated regulatory output.
Point mutation at the Nbs1 (show NBN Proteins) Threonine 278 site does not affect mouse development, but compromises the Chk2 (show CHEK2 Proteins) and Smc1 phosphorylation after DNA damage.
A positively charged channel within the Smc1/Smc3 (show SMC3 Proteins) hinge required for sister chromatid cohesion.
SMC1alpha is mainly associated with homologous or non-homologous synapsed regions. The protein also localizes along meiotic chromosome cores of Spo11 (show SPO11 Proteins) null spermatocytes.
observations suggest that many of the abnormal stress responses seen in cells lacking ATM (show ATM Proteins), NBS1 (show NBN Proteins), or BRCA1 (show BRCA1 Proteins) result from a failure of ATM (show ATM Proteins) migration to sites of DNA breaks and a resultant lack of SMC1 phosphorylation.
SMC1beta (show SMC1B Proteins) was found along the axial elements of synaptonemal complexes in prophase I of testis sections and chromosome spreads . Thus, SMC1beta (show SMC1B Proteins) and not SMC1alpha is likely involved in maintaining cohesion between sister centromeres until anaphase II.
Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1L2 or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation.
SMC1 structural maintenance of chromosomes 1-like 1
, SMC1 structural maintenance of chromosomes 1-like 2
, structural maintenance of chromosomes 1A
, structural maintenance of chromosomes protein 1A-like
, SMC protein 1A
, SMC1 (structural maintenance of chromosomes 1, yeast)-like 1
, segregation of mitotic chromosomes 1
, structural maintenance of chromosomes protein 1A
, SMC (segregation of mitotic chromosomes 1)-like 1
, chromosome segregation protein SmcB
, segregation of mitotic chromosomes b
, SMC-like 1
, structural maintenance of chromosomes 1A a
, SMC1 protein cohesin subunit
, structural maintenance of chromosomes 1
, segregation of mitotic chromosomes-like 1
, structural maintenance of chromosomes 1 like 1
, 14S cohesin SMC1 subunit