The deacetylation-phosphorylation regulation of SIRT2-SMC1A axis as a mechanism of antimitotic catastrophe in early tumorigenesis. PMID: 33627431
The multiple facets of the SMC1A gene. PMID: 32222533
SMC1A regulated by KIAA1429 in m6A-independent manner promotes EMT progress in breast cancer. PMID: 34976433
Cornelia de Lange syndrome. PMID: 20687500
Holoprosencephaly Overview. PMID: 20301702
[Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review]. PMID: 35658367
Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. PMID: 31704779
Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. PMID: 19842212
Congenital Diaphragmatic Hernia Overview. PMID: 20301533
Cornelia de Lange Syndrome. PMID: 20301283
Effects of SMC1A on immune microenvironment and cancer stem cells in colon adenocarcinoma. PMID: 37096492
The multifaceted roles of cohesin in cancer. PMID: 35287703
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome. PMID: 35238682
SMC1A recruits tumor-associated-fibroblasts (TAFs) and promotes colorectal cancer metastasis. PMID: 27826041
Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature. PMID: 32496272
Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome. PMID: 28102598
Mutations of myelodysplastic syndromes (MDS): An update. PMID: 27543316
Label-free proteomics uncovers SMC1A expression is Down-regulated in AUB-E. PMID: 33653363
SMC1A promotes growth and migration of prostate cancer in vitro and in vivo. PMID: 27667360
[Corrigendum] SMC1A promotes growth and migration of prostate cancer in vitro and in vivo. PMID: 34751413
Cohesin subunit RAD21: From biology to disease. PMID: 32687945
Phosphorylation of SMC1A promotes hepatocellular carcinoma cell proliferation and migration. PMID: 29988990
SMC1A knockdown induces growth suppression of human lung adenocarcinoma cells through G1/S cell cycle phase arrest and apoptosis pathways in vitro. PMID: 23426528
siRNA-mediated knockdown of SMC1A expression suppresses the proliferation of glioblastoma cells. PMID: 23754617
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy. PMID: 37107610
Role of SMC1A overexpression as a predictor of poor prognosis in late stage colorectal cancer. PMID: 25884313
Knocking down SMC1A inhibits growth and leads to G2/M arrest in human glioma cells. PMID: 23638217
SMC1A is associated with radioresistance in prostate cancer and acts by regulating epithelial-mesenchymal transition and cancer stem-like properties. PMID: 30242889
Phenotypes and genotypes in individuals with SMC1A variants. PMID: 28548707
The expanding phenotypes of cohesinopathies: one ring to rule them all! PMID: 31516082
X linked Infantile Epileptic Encephalopathy due to SMC1A Truncating Mutation. PMID: 33911395
Low SMC1A protein expression predicts poor survival in acute myeloid leukemia. PMID: 20514443
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. PMID: 19701948
miRNA-mRNA Profiling Reveals Prognostic Impact of SMC1A Expression in Acute Myeloid Leukemia. PMID: 32059753
Development, behaviour and autism in individuals with SMC1A variants. PMID: 30295920
Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant. PMID: 35396801
The clinical mutatome of core binding factor leukemia. PMID: 31896782
Downregulation of SMC1A inhibits growth and increases apoptosis and chemosensitivity of colorectal cancer cells. PMID: 26637483
Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development. PMID: 30823889
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. PMID: 28166369
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. PMID: 26386245
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls. PMID: 24756084
SMC1A codon 496 mutations affect the cellular response to genotoxic treatments. PMID: 22140011
Could a patient with SMC1A duplication be classified as a human cohesinopathy? PMID: 23683030
Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A. PMID: 35712061
[Proliferation, migration and apoptosis of acute myeloid leukemia cells regulated by mir-23a-3p targeting SMC1A and the mechanism]. PMID: 31648497
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation. PMID: 31098032
A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy. PMID: 31185419
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome. PMID: 36246631
Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype. PMID: 28677859
Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation. PMID: 31425923
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. PMID: 24124034
Knockdown of lncRNA TUG1 Enhances Radiosensitivity of Prostate Cancer via the TUG1/miR-139-5p/SMC1A Axis. PMID: 32256083
Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report. PMID: 35589488
Long noncoding RNA NEAT1 modulates cell proliferation and apoptosis by regulating miR-23a-3p/SMC1A in acute myeloid leukemia. PMID: 30246348
Cohesin complex-associated holoprosencephaly. PMID: 31334757
Phenotypic spectrum and long-term outcome of children with genetic early-infantile-onset developmental and epileptic encephalopathy. PMID: 34859793
MiR-9 Promotes Apoptosis Via Suppressing SMC1A Expression in GBM Cell Lines. PMID: 28868238
[Cornelia de Lange syndrome caused by SMC1A gene variation in a child]. PMID: 31905481
A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy. PMID: 32648047
Cohesin mutations in human cancer. PMID: 27207471
tRF-20-M0NK5Y93-induced MALAT1 promotes colon cancer metastasis through alternative splicing of SMC1A. PMID: 37034215
Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo. PMID: 29860495
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. PMID: 26358754
miR-638 suppresses DNA damage repair by targeting SMC1A expression in terminally differentiated cells. PMID: 27405111
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. PMID: 20358602
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. PMID: 18996922
A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation. PMID: 32532882
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. PMID: 26752331
A case of cohesinopathy with a novel de-novo SMC1A splice site mutation. PMID: 23863341
[A case of neonatal Cornelia de Lange syndrome caused by a novel variant of SMC1A gene]. PMID: 34729759
The biological function of m6A methyltransferase KIAA1429 and its role in human disease. PMID: 36389416
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. PMID: 17273969
Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. PMID: 23106691
Cornelia de Lange syndrome, cohesin, and beyond. PMID: 19793304
In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. PMID: 22106055
Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing. PMID: 26354354
PRAME induces genomic instability in uveal melanoma. PMID: 37162820
Special cases in Cornelia de Lange syndrome: The Spanish experience. PMID: 27164022
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. PMID: 20635401
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. PMID: 24038889
Identification of a seven-cell cycle signature predicting overall survival for gastric cancer. PMID: 35537781
CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies. PMID: 26206533
Two-step ATP-driven opening of cohesin head. PMID: 28607419
Genomic Analysis of Korean Patient With Microcephaly. PMID: 33584783
Cohesin gene mutations in tumorigenesis: from discovery to clinical significance. PMID: 24856830
Cohesin controls X chromosome structure remodeling and X-reactivation during mouse iPSC-reprogramming. PMID: 36669113
Molecular and Cellular Mechanisms of Myelodysplastic Syndrome: Implications on Targeted Therapy. PMID: 27023522
Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature. PMID: 29023665
Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders. PMID: 27576763
Interactome of the Autoimmune Risk Protein ANKRD55. PMID: 31620119
Identification of Novel circRNA-Based ceRNA Network Involved in the Pathogenesis of Gastric Cancer. PMID: 35685832
Cornelia de Lange syndrome in diverse populations. PMID: 30614194
Genomic characterization of intracranial teratomas using whole genome sequencing. PMID: 36457486
Prognostic relevance of SMC family gene expression in human sarcoma. PMID: 33460400
NIPBL: a new player in myeloid cell differentiation. PMID: 30630974
Epileptic features in Cornelia de Lange syndrome: case report and literature review. PMID: 24461912
Natural history of aging in Cornelia de Lange syndrome. PMID: 17640042
Next-generation sequencing in X-linked intellectual disability. PMID: 25649377
Role of rs10406069 in miR-5196 in hyperdiploid childhood acute lymphoblastic leukemia. PMID: 33245684
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