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the clinical features of these three cases are remarkably similar to those observed in other well-established cohesinopathies. Herein, we suggest that STAG2 is a dosage-sensitive gene and that heterozygous loss-of-function variants lead to a cohesinopathy.
results indicated that the complete loss of STAG2 expression was predictive for better recurrence-free survival and cancer-specific survival, suggesting its potential value as a prognostic biomarker in bladder cancer
We suggest that increased STAG2 gene copy number and dysregulation of its downstream target genes may be responsible for the specific clinical findings of this syndrome.
Characterization of C-terminal nuclear localization signal of the human SA2 stromalin
Data show a significantly higher stromal antigen 2 (STAG2) mRNA and protein levels in normal bladder cells than bladder cancer cells.
Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability
STAG2 promotes the correction of kMT (show CAMKMT Proteins) attachment errors to ensure faithful chromosome segregation during mitosis.
Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 (show TP53 Proteins) mutations
Loss of STAG2 expression occurs in 15% of tumors and is associated with metastatic disease, suggesting a potential genetic vulnerability in Ewing sarcoma
our study identifies the duplication of XIAP (show XIAP Proteins) and STAG2 as the minimal duplicated region leading to the ID, facial morphological anomalies, and speech delay, specific to the patients with Xq25 duplication.
our data suggests that STAG3 is required for structural changes of chromosomes that mediate chromosome pairing and synapsis, DNA repair and progression of meiosis.
STAG3 is a strong candidate gene for male infertility
STAG3 emerges as the key STAG cohesin involved in major functions of meiotic cohesin.
STAG3-REC8 cohesin complexes have a critical role in supporting meiotic chromosome structure and functions.
E2F6 silences SMC1beta and STAG3 in somatic cells
a cohesin complex containing Rad21 and STAG2 cooperates with a STAG3-specific complex to maintain sister chromatid cohesion during the diplotene stage of meiosis
Meiosis specific component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis- specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I (By similarity).
stromal antigen 2
, stromal antigen 2, isoform 1
, SCC3 homolog 2
, cohesin subunit SA-2
, nuclear protein SA2
, cohesin subunit XSA2
, stromal antigen 2 homolog
, SCC3 homolog 3
, cohesin subunit SA-3
, stromalin 3