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2021 1
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2024 14

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STAT4 and COL1A2 are potential diagnostic biomarkers and therapeutic targets for heart failure comorbided with depression.
Huang K, Zhang X, Duan J, Wang R, Wu Z, Yang C, Yang L. Huang K, et al. Brain Res Bull. 2022 Jun 15;184:68-75. doi: 10.1016/j.brainresbull.2022.03.014. Epub 2022 Mar 31. Brain Res Bull. 2022. PMID: 35367598 Review.
PPI network construction indicated that HF comorbided with depression is likely related to 5 hub genes, including STAT4, CD83, CX3CR1, COL1A2, and SH2D1B. In validated datasets, STAT4 and COL1A2 were especially involved in the comorbidity of HF and depression. CONCL …
PPI network construction indicated that HF comorbided with depression is likely related to 5 hub genes, including STAT4, CD83, CX3CR1, CO …
Single-nucleus chromatin accessibility identifies a critical role for TWIST1 in idiopathic pulmonary fibrosis myofibroblast activity.
Valenzi E, Bahudhanapati H, Tan J, Tabib T, Sullivan DI, Nouraie M, Sembrat J, Fan L, Chen K, Liu S, Rojas M, Lafargue A, Felsher DW, Tran PT, Kass DJ, Lafyatis R. Valenzi E, et al. Eur Respir J. 2023 Jul 7;62(1):2200474. doi: 10.1183/13993003.00474-2022. Print 2023 Jul. Eur Respir J. 2023. PMID: 37142338 Free PMC article.
We performed RNA-sequencing on pulmonary fibroblasts of bleomycin-injured Twist1-overexpressing COL1A2 Cre-ER mice to examine alterations in fibrosis-relevant pathways following Twist1 overexpression in collagen-producing cells. ...TWIST1 expression was selectively upregul …
We performed RNA-sequencing on pulmonary fibroblasts of bleomycin-injured Twist1-overexpressing COL1A2 Cre-ER mice to examine alterat …
Identification of key genes in colorectal cancer diagnosis by co-expression analysis weighted gene co-expression network analysis.
Mortezapour M, Tapak L, Bahreini F, Najafi R, Afshar S. Mortezapour M, et al. Comput Biol Med. 2023 May;157:106779. doi: 10.1016/j.compbiomed.2023.106779. Epub 2023 Mar 11. Comput Biol Med. 2023. PMID: 36931200
Among these eight hub genes, upregulation of MMP9, SERPINH1, COL1A2, COL5A2, COL1A1, SPARC, and COL5A1 in CRC was validated in other microarray and TCGA data. ...Furthermore, Ocriplasmin and Collagenase clostridium histolyticum could target COL1A1, COL1A2, COL5A1, a …
Among these eight hub genes, upregulation of MMP9, SERPINH1, COL1A2, COL5A2, COL1A1, SPARC, and COL5A1 in CRC was validated in other …
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2 and COL12A1, associated with various forms of HCTD featuring joint hypermobility, which is becoming one of the mo …
A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1 …
Copy Number Variation and Osteoporosis.
Lovšin N. Lovšin N. Curr Osteoporos Rep. 2023 Apr;21(2):167-172. doi: 10.1007/s11914-023-00773-y. Epub 2023 Feb 16. Curr Osteoporos Rep. 2023. PMID: 36795294 Free PMC article. Review.
Identification of CNVs in genes previously associated with osteoporosis (e.g. RUNX2, COL1A2, and PLS3) has confirmed their importance in bone remodelling. ...
Identification of CNVs in genes previously associated with osteoporosis (e.g. RUNX2, COL1A2, and PLS3) has confirmed their importance …
Transcriptomic Signatures in Colorectal Cancer Progression.
Ershov P, Poyarkov S, Konstantinova Y, Veselovsky E, Makarova A. Ershov P, et al. Curr Mol Med. 2023;23(3):239-249. doi: 10.2174/1566524022666220427102048. Curr Mol Med. 2023. PMID: 35490318 Review.
The "core" consisted of 28 hub-genes (CCNB1, LPAR1, BGN, CXCL3, COL1A2, UBE2C, NMU, COL1A1, CXCL2, CXCL11, CDK1, TOP2A, AURKA, SST, CXCL5, MMP3, CCND1, TIMP1, CXCL8, CXCL1, CXCL12, MYC, CCNA2, GCG, GUCA2A, PAICS, PYY and THBS2) mentioned in not less than three articles and …
The "core" consisted of 28 hub-genes (CCNB1, LPAR1, BGN, CXCL3, COL1A2, UBE2C, NMU, COL1A1, CXCL2, CXCL11, CDK1, TOP2A, AURKA, SST, C …
COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.
Venable E, Knight DRT, Thoreson EK, Baudhuin LM. Venable E, et al. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):147-159. doi: 10.1002/ajmg.c.32038. Epub 2023 Mar 9. Am J Med Genet C Semin Med Genet. 2023. PMID: 36896471
Pathogenic variants in COL1A1 and COL1A2 are involved in osteogenesis imperfecta (OI) and, rarely, Ehlers-Danlos syndrome (EDS) subtypes and OI-EDS overlap syndromes (OIEDS1 and OIEDS2, respectively). Here we describe a cohort of 34 individuals with likely pathogenic and p …
Pathogenic variants in COL1A1 and COL1A2 are involved in osteogenesis imperfecta (OI) and, rarely, Ehlers-Danlos syndrome (EDS) subty …
Single-cell transcriptome analysis reveals intratumoral heterogeneity in lung adenocarcinoma.
Xu H, Jiang L, Qin L, Shi P, Xu P, Liu C. Xu H, et al. Environ Toxicol. 2024 Mar;39(3):1847-1857. doi: 10.1002/tox.24048. Epub 2023 Dec 22. Environ Toxicol. 2024. PMID: 38133212
In addition, we also detected an intense signal transduction network from the cancer-associated fibroblasts (CAFs) to malignant cells, mainly involving the DCN/MET, COLA1/DDR1, COL1A1/SDC1, and COL1A2/SDC1 pathways. The tumor differentiation trajectory consisted of state 1 …
In addition, we also detected an intense signal transduction network from the cancer-associated fibroblasts (CAFs) to malignant cells, mainl …
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
Yamaguti PM, de La Dure-Molla M, Monnot S, Cardozo-Amaya YJ, Baujat G, Michot C, Fournier BPJ, Riou MC, Caldas Rosa ECC, Soares de Lima Y, Dos Santos PAC, Alcaraz G, Guerra ENS, Castro LC, de Oliveira SF, Pogue R, Berdal A, de Paula LM, Mazzeu JF, Cormier-Daire V, Acevedo AC. Yamaguti PM, et al. J Dent Res. 2023 Jun;102(6):616-625. doi: 10.1177/00220345231154569. Epub 2023 Mar 23. J Dent Res. 2023. PMID: 36951356
Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its prevalence varies according to the studied population. ...Results show that DI was more frequent in severe an …
Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 heteroz …
80 results