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Year Number of Results
2019 3
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2025 5

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159 results

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Page 1
Single-nucleus multiregion transcriptomic analysis of brain vasculature in Alzheimer's disease.
Sun N, Akay LA, Murdock MH, Park Y, Galiana-Melendez F, Bubnys A, Galani K, Mathys H, Jiang X, Ng AP, Bennett DA, Tsai LH, Kellis M. Sun N, et al. Nat Neurosci. 2023 Jun;26(6):970-982. doi: 10.1038/s41593-023-01334-3. Epub 2023 Jun 1. Nat Neurosci. 2023. PMID: 37264161 Free PMC article.
We identify 2,676 differentially expressed genes in AD, including downregulation of PDGFRB in pericytes, and of ABCB1 and ATP10A in endothelial cells, and validate the downregulation of SLC6A1 and upregulation of APOD, INSR and COL4A1 in postmortem AD brain tissues. We det …
We identify 2,676 differentially expressed genes in AD, including downregulation of PDGFRB in pericytes, and of ABCB1 and ATP10A in endothel …
Spatial transcriptomics combined with single-cell RNA-sequencing unravels the complex inflammatory cell network in atopic dermatitis.
Mitamura Y, Reiger M, Kim J, Xiao Y, Zhakparov D, Tan G, Rückert B, Rinaldi AO, Baerenfaller K, Akdis M, Brüggen MC, Nadeau KC, Brunner PM, Roqueiro D, Traidl-Hoffmann C, Akdis CA. Mitamura Y, et al. Allergy. 2023 Aug;78(8):2215-2231. doi: 10.1111/all.15781. Epub 2023 Jun 14. Allergy. 2023. PMID: 37312623
Spatial transcriptomics analysis showed the upregulation of COL6A5, COL4A1, TNC, and CCL19 in COL18A1-expressing fibroblasts in the leukocyte-infiltrated areas in AD skin. ...
Spatial transcriptomics analysis showed the upregulation of COL6A5, COL4A1, TNC, and CCL19 in COL18A1-expressing fibroblasts in the l …
Sex-specific genetic architecture of blood pressure.
Yang ML, Xu C, Gupte T, Hoffmann TJ, Iribarren C, Zhou X, Ganesh SK. Yang ML, et al. Nat Med. 2024 Mar;30(3):818-828. doi: 10.1038/s41591-024-02858-2. Epub 2024 Mar 8. Nat Med. 2024. PMID: 38459180 Free PMC article.
Analyses of gene-by-sex interactions and sexually dimorphic effects identified four genomic regions, showing female-specific associations with diastolic BP or pulse pressure, including the chromosome 13q34-COL4A1/COL4A2 locus. Notably, female-specific pulse pressure-associ …
Analyses of gene-by-sex interactions and sexually dimorphic effects identified four genomic regions, showing female-specific associations wi …
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
Known genes most frequently implicated by polymicrogyria-associated variants in this cohort were PIK3R2, TUBB2B, COL4A1, and SCN3A. Six candidate novel polymicrogyria genes were identified or confirmed: de novo missense variants in PANX1, QRICH1, and SCN2A and compound het …
Known genes most frequently implicated by polymicrogyria-associated variants in this cohort were PIK3R2, TUBB2B, COL4A1, and SCN3A. S …
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
Wu C, Wang M, Wang X, Li W, Li S, Chen B, Niu S, Tai H, Pan H, Zhang Z. Wu C, et al. Brain. 2023 Jun 1;146(6):2364-2376. doi: 10.1093/brain/awac426. Brain. 2023. PMID: 36380532 Free PMC article.
Patients with NOTCH3 mutations accounted for 70% of the leukovasculopathies, followed by HTRA1 (13%) and COL4A1/2 (9%). The leuko-axonopathies contained the richest variety of associated genes, of which NOTCH2NLC comprised 62%. ...
Patients with NOTCH3 mutations accounted for 70% of the leukovasculopathies, followed by HTRA1 (13%) and COL4A1/2 (9%). The leuko-axo …
The secreted micropeptide C4orf48 enhances renal fibrosis via an RNA-binding mechanism.
Yang J, Zhuang H, Li J, Nunez-Nescolarde AB, Luo N, Chen H, Li A, Qu X, Wang Q, Fan J, Bai X, Ye Z, Gu B, Meng Y, Zhang X, Wu D, Sia Y, Jiang X, Chen W, Combes AN, Nikolic-Paterson DJ, Yu X. Yang J, et al. J Clin Invest. 2024 Apr 16;134(10):e178392. doi: 10.1172/JCI178392. J Clin Invest. 2024. PMID: 38625739 Free PMC article.
RNA immunoprecipitation-sequencing identified Cf48 binding to mRNA of genes involved in the fibrotic response, including Serpine1, Acta2, Ccn2, and Col4a1. rCf48 binds to the 3'UTR of Serpine1 and increases mRNA half-life. We identify the secreted Cf48 micropeptide as a po …
RNA immunoprecipitation-sequencing identified Cf48 binding to mRNA of genes involved in the fibrotic response, including Serpine1, Acta2, Cc …
Gene Expression Linked to Reepithelialization of Human Skin Wounds.
Ågren MS, Litman T, Eriksen JO, Schjerling P, Bzorek M, Gjerdrum LMR. Ågren MS, et al. Int J Mol Sci. 2022 Dec 12;23(24):15746. doi: 10.3390/ijms232415746. Int J Mol Sci. 2022. PMID: 36555389 Free PMC article.
We identified 22 upregulated differentially expressed genes (DEGs) in descending order of fold change (MMP1, MMP3, IL6, CXCL8, SERPINE1, IL1B, PTGS2, HBEGF, CXCL5, CXCL2, TIMP1, CYR61, CXCL1, MMP12, MMP9, HGF, CTGF, ITGB3, MT2A, FGF7, COL4A1 and PLAUR). The expression of t …
We identified 22 upregulated differentially expressed genes (DEGs) in descending order of fold change (MMP1, MMP3, IL6, CXCL8, SERPINE1, IL1 …
Novel COL4A1-VEGFD gene fusion in myofibroma.
Dachy G, Fraitag S, Boulouadnine B, Cordi S, Demoulin JB. Dachy G, et al. J Cell Mol Med. 2021 May;25(9):4387-4394. doi: 10.1111/jcmm.16502. Epub 2021 Apr 8. J Cell Mol Med. 2021. PMID: 33830670 Free PMC article.
Finally, we showed that the COL4A1-VEGFD chimeric protein was processed to mature VEGFD growth factor by proteases, such as the FURIN proprotein convertase. In conclusion, our results unravel a new recurrent gene fusion that leads to VEGFD production under the control of t …
Finally, we showed that the COL4A1-VEGFD chimeric protein was processed to mature VEGFD growth factor by proteases, such as the FURIN …
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Fehlings DL, Zarrei M, Engchuan W, Sondheimer N, Thiruvahindrapuram B, MacDonald JR, Higginbotham EJ, Thapa R, Behlim T, Aimola S, Switzer L, Ng P, Wei J, Danthi PS, Pellecchia G, Lamoureux S, Ho K, Pereira SL, de Rijke J, Sung WWL, Mowjoodi A, Howe JL, Nalpathamkalam T, Manshaei R, Ghaffari S, Whitney J, Patel RV, Hamdan O, Shaath R, Trost B, Knights S, Samdup D, McCormick A, Hunt C, Kirton A, Kawamura A, Mesterman R, Gorter JW, Dlamini N, Merico D, Hilali M, Hirschfeld K, Grover K, Bautista NX, Han K, Marshall CR, Yuen RKC, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes TJ, Simons E, Maxwell G, Shevell M, Costain G, Michaud JL, Hamdan FF, Gauthier J, Uguen K, Stavropoulos DJ, Wintle RF, Oskoui M, Scherer SW. Fehlings DL, et al. Nat Genet. 2024 Apr;56(4):585-594. doi: 10.1038/s41588-024-01686-x. Epub 2024 Mar 29. Nat Genet. 2024. PMID: 38553553
Multiple classes of P/LP variants included single-nucleotide variants (SNVs)/indels (6.7%), copy number variations (3.4%) and mitochondrial mutations (1.5%). The COL4A1 gene had the most P/LP SNVs. We also analyzed two pediatric control cohorts (n = 203 trios and n = 89 si …
Multiple classes of P/LP variants included single-nucleotide variants (SNVs)/indels (6.7%), copy number variations (3.4%) and mitochondrial …
RUNX1/NPM1/H3K4me3 complex contributes to extracellular matrix remodeling via enhancing FOSL2 transcriptional activation in glioblastoma.
Cui X, Huo D, Wang Q, Wang Y, Liu X, Zhao K, You Y, Zhang J, Kang C. Cui X, et al. Cell Death Dis. 2024 Jan 29;15(1):98. doi: 10.1038/s41419-024-06481-4. Cell Death Dis. 2024. PMID: 38286983 Free PMC article.
In this study, by using integral analysis of chromatin immunoprecipitation-sequencing and RNA sequencing, we reported that RUNX1 positively regulated the expression of various ECM-related genes, including Fibronectin 1 (FN1), Collagen type IV alpha 1 chain (COL4A1), and Lu …
In this study, by using integral analysis of chromatin immunoprecipitation-sequencing and RNA sequencing, we reported that RUNX1 positively …
159 results