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2020 5
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133 results

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Page 1
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Reis LM, et al. J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26. J Med Genet. 2023. PMID: 35882526 Free PMC article.
RESULTS: 128 individuals with causative variants in PITX2 or FOXC1, including 81 new cases, were investigated. Ocular anomalies showed significant overlap but with broader variability and earlier onset of glaucoma for FOXC1-related ARS. ...Brain imaging revealed hig …
RESULTS: 128 individuals with causative variants in PITX2 or FOXC1, including 81 new cases, were investigated. Ocular anomalies showe …
Systems biology-based analysis exploring shared biomarkers and pathogenesis of myocardial infarction combined with osteoarthritis.
Luo Y, Liu Y, Xue W, He W, Lv D, Zhao H. Luo Y, et al. Front Immunol. 2024 Jul 17;15:1398990. doi: 10.3389/fimmu.2024.1398990. eCollection 2024. Front Immunol. 2024. PMID: 39086489 Free PMC article.
Two potential subtypes were identified in both datasets. Furthermore, FOXC1 may be the crucial TF, and the relationship of TFs-hub genes-immune cells was visualized by the Sankey diagram, which could help discover the pathogenesis between MI and OA. ...
Two potential subtypes were identified in both datasets. Furthermore, FOXC1 may be the crucial TF, and the relationship of TFs-hub ge …
Defining super-enhancer landscape in triple-negative breast cancer by multiomic profiling.
Huang H, Hu J, Maryam A, Huang Q, Zhang Y, Ramakrishnan S, Li J, Ma H, Ma VWS, Cheuk W, So GYK, Wang W, Cho WCS, Zhang L, Chan KM, Wang X, Chin YR. Huang H, et al. Nat Commun. 2021 Apr 14;12(1):2242. doi: 10.1038/s41467-021-22445-0. Nat Commun. 2021. PMID: 33854062 Free PMC article.
Using CRISPR/Cas9-mediated gene editing, we identify genes that are specifically regulated by TNBC-specific super-enhancers, including FOXC1 and MET, thereby unveiling a mechanism for specific overexpression of the key oncogenes in TNBC. ...
Using CRISPR/Cas9-mediated gene editing, we identify genes that are specifically regulated by TNBC-specific super-enhancers, including FO …
HIF1A-AS2 promotes the metabolic reprogramming and progression of colorectal cancer via miR-141-3p/FOXC1 axis.
Zhong X, Wang Y, He X, He X, Hu Z, Huang H, Chen J, Chen K, Wei P, Zhao S, Wang Y, Zhang H, Feng B, Li D. Zhong X, et al. Cell Death Dis. 2024 Sep 3;15(9):645. doi: 10.1038/s41419-024-06958-2. Cell Death Dis. 2024. PMID: 39227375 Free PMC article.
Functional experiments were performed to determine the roles of HIF1A-AS2 in tumor progression and we found that HIF1A-AS2 can promote the proliferation, metastasis, and aerobic glycolysis of CRC cells. Mechanistically, HIF1A-AS2 can promote FOXC1 expression by sponging mi …
Functional experiments were performed to determine the roles of HIF1A-AS2 in tumor progression and we found that HIF1A-AS2 can promote the p …
Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.
Zhou L, Wang X, An J, Zhang Y, He M, Tang L. Zhou L, et al. Exp Eye Res. 2023 Jan;226:109307. doi: 10.1016/j.exer.2022.109307. Epub 2022 Nov 25. Exp Eye Res. 2023. PMID: 36442680 Free article. Review.
PITX2 and FOXC1 are the most common pathogenic genes associated with Axenfeld-Rieger syndrome (ARS). ...Genotype-phenotype correlations of PITX2 and FOXC1 and the differences between them were determined. We detected three variants of FOXC1 and two variants o …
PITX2 and FOXC1 are the most common pathogenic genes associated with Axenfeld-Rieger syndrome (ARS). ...Genotype-phenotype correlatio …
FOXC1 Expression Predicts Capecitabine Efficacy in Patients with Triple-Negative Breast Cancer from the GEICAM_CIBOMA Trial.
Rojo F, Taylor CR, Barrios C, Torrecillas L, Ruiz-Borrego M, Perez-Buira S, Bines J, Guerrero-Zotano A, Garcia-Saenz JA, Torres R, de la Haba-Rodriguez J, Ayala F, Gomez H, Llombart A, Rodriguez de la Borbolla M, Baena-Cañada JM, Barnadas A, Calvo L, Herranz J, Rincon R, Caballero R, Bermejo B, Ray PS, Martin M; GEICAM_CIBOMA Clinical Trial Group. Rojo F, et al. Clin Cancer Res. 2025 Sep 2;31(17):3715-3724. doi: 10.1158/1078-0432.CCR-25-0338. Clin Cancer Res. 2025. PMID: 40569606 Free PMC article. Clinical Trial.
PURPOSE: In a prespecified GEICAM_CIBOMA trial (NCT00130533) correlative analysis, PAM50 non-basal-like breast cancer (non-BLBC) status distinguished patients with triple-negative breast cancer (TNBC) who are most likely to benefit from adjuvant capecitabine. The standardized …
PURPOSE: In a prespecified GEICAM_CIBOMA trial (NCT00130533) correlative analysis, PAM50 non-basal-like breast cancer (non-BLBC) status dist …
Single-cell transcriptomics reveals cellular heterogeneity and macrophage-to-mesenchymal transition in bicuspid calcific aortic valve disease.
Lyu T, Liu Y, Li B, Xu R, Guo J, Zhu D. Lyu T, et al. Biol Direct. 2023 Jun 30;18(1):35. doi: 10.1186/s13062-023-00390-w. Biol Direct. 2023. PMID: 37391760 Free PMC article.
Furthermore, when exploring the monocytic lineage, a special population, macrophage derived stromal cells (MDSC), was revealed to be originated from MRC1(+) (CD206) macrophages (Macrophage-to-Mesenchymal transition, MMT). FOXC1 and PI3K-AKT pathway were identified as poten …
Furthermore, when exploring the monocytic lineage, a special population, macrophage derived stromal cells (MDSC), was revealed to be origina …
The human genetic variant rs6190 unveils Foxc1 and Arid5a as novel prometabolic targets of the glucocorticoid receptor in muscle.
Prabakaran AD, Montecino-Morales F, McFarland K, Govindarajan T, Durumutla HB, Latimer H, Akinborewa O, Villa C, Millay DP, Quattrocelli M. Prabakaran AD, et al. Sci Adv. 2025 Jul 11;11(28):eadw2593. doi: 10.1126/sciadv.adw2593. Epub 2025 Jul 9. Sci Adv. 2025. PMID: 40632872 Free PMC article.
In the muscle, we further characterize Foxc1 as transcriptional activator of Insr and Irs1 in the canonical insulin signaling and Arid5a as transcriptional repressor of Cd36 and Fabp4 in the lipid uptake pathway. Moreover, Foxc1 and Arid5a programs in muscle were di …
In the muscle, we further characterize Foxc1 as transcriptional activator of Insr and Irs1 in the canonical insulin signaling and Ari …
Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations.
Zukerman R, Harris A, Vercellin AV, Siesky B, Pasquale LR, Ciulla TA. Zukerman R, et al. Genes (Basel). 2020 Dec 31;12(1):55. doi: 10.3390/genes12010055. Genes (Basel). 2020. PMID: 33396423 Free PMC article. Review.
Genes associated with elevated IOP or POAG risk include: ABCA1, AFAP1, ARHGEF12, ATXN2, CAV1, CDKN2B-AS1, FOXC1, GAS7, GMDS, SIX1/SIX6, TMCO1, and TXNRD2. However, there are variations in RF and genetic factors based on ethnic and geographic differences; it is clear that u …
Genes associated with elevated IOP or POAG risk include: ABCA1, AFAP1, ARHGEF12, ATXN2, CAV1, CDKN2B-AS1, FOXC1, GAS7, GMDS, SIX1/SIX …
Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.
Pyatla G, Kabra M, Mandal AK, Zhang W, Mishra A, Bera S, Rathi S, Patnaik S, Anthony AA, Dixit R, Banerjee S, Shekhar K, Marmamula S, Kaur I, Khanna RC, Chakrabarti S. Pyatla G, et al. Int J Mol Sci. 2024 Sep 18;25(18):10028. doi: 10.3390/ijms251810028. Int J Mol Sci. 2024. PMID: 39337513 Free PMC article.
Previous studies have implicated rare variants in CYP1B1, LTBP2, and TEK and their interactions with MYOC, FOXC1, and PRSS56 in the genetic complexity and clinical heterogeneity of PCG. Given that some of the gene-encoded proteins are localized in the centrosomes (MYOC) an …
Previous studies have implicated rare variants in CYP1B1, LTBP2, and TEK and their interactions with MYOC, FOXC1, and PRSS56 in the g …
133 results