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Year Number of Results
2020 3
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2022 38
2023 29
2024 43
2025 34
2026 4

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160 results

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Page 1
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 …
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 …
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 …
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.
Gasparini S, Balestrini S, Saccaro LF, Bacci G, Panichella G, Montomoli M, Cantalupo G, Bigoni S, Mancano G, Pellacani S, Leuzzi V, Volpi N, Mari F, Melani F, Cavallin M, Pisano T, Porcedda G, Vaglio A, Mei D, Barba C, Parrini E, Guerrini R. Gasparini S, et al. Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32099. doi: 10.1002/ajmg.c.32099. Epub 2024 Jul 17. Am J Med Genet C Semin Med Genet. 2024. PMID: 39016117
COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2-related manifestations is challenging, and there is no consensus on management and preventative strategies. Based on a systematic revie …
COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1 …
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 …
Single-cell transcriptomics reveal distinctive patterns of fibroblast activation in heart failure with preserved ejection fraction.
Lanzer JD, Wienecke LM, Ramirez Flores RO, Zylla MM, Kley C, Hartmann N, Sicklinger F, Schultz JH, Frey N, Saez-Rodriguez J, Leuschner F. Lanzer JD, et al. Basic Res Cardiol. 2024 Dec;119(6):1001-1028. doi: 10.1007/s00395-024-01074-w. Epub 2024 Sep 23. Basic Res Cardiol. 2024. PMID: 39311911 Free PMC article.
Moreover, HFpEF-specific characteristics included induced metabolic, hypoxic and inflammatory transcription factors and pathways, including enhanced expression of Angiopoietin-like 4 (Angptl4) next to basement membrane compounds, such as collagen IV (Col4a1). Fibroblast ac …
Moreover, HFpEF-specific characteristics included induced metabolic, hypoxic and inflammatory transcription factors and pathways, including …
Spatial multiomics reveals a subpopulation of fibroblasts associated with cancer stemness in human hepatocellular carcinoma.
Jing SY, Liu D, Feng N, Dong H, Wang HQ, Yan X, Chen XF, Qu MC, Lin P, Yi B, Feng F, Chen L, Wang HY, Li H, He YF. Jing SY, et al. Genome Med. 2024 Aug 13;16(1):98. doi: 10.1186/s13073-024-01367-8. Genome Med. 2024. PMID: 39138551 Free PMC article.
RESULTS: We identified a liver CAF subpopulation, marked by the expression of COL1A2, COL4A1, COL4A2, CTGF, and FSTL1, and named F5-CAF. F5-CAF is preferentially located within and around tumor nests and colocalizes with cancer cells with higher stemness in hepatocellular …
RESULTS: We identified a liver CAF subpopulation, marked by the expression of COL1A2, COL4A1, COL4A2, CTGF, and FSTL1, and named F5-C …
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 …
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.
Tambala D, Vassar R, Snow J, Balestrini S, Bersano A, Guey S, Bonaventura E, Signorini S, Sartori S, Bertini E, Tonduti D, Parazzini C, Macchiaiolo M, Pelizza MF, Pichiecchio A, Massella L, Coste T, Orcesi S, Politano D, Bacci G, Marziali E, Dollfus H, Mandelli A, Chinali M, Plaisier E, Simioni P, Colombatti R, Guerrini R, Tournier-Lasserve E, Gould DB, Musolino PL. Tambala D, et al. Genet Med. 2025 Sep;27(9):101514. doi: 10.1016/j.gim.2025.101514. Epub 2025 Jul 2. Genet Med. 2025. PMID: 40616396 Free article.
PURPOSE: Collagen type 4 alpha 1 (COL4A1) and alpha 2 (COL4A2) chains, encoded by COL4A1 and COL4A2, are essential for basement membrane integrity, contributing to structural stability and cell regulation. ...CONCLUSION: Genetic testing and counseling are advised fo …
PURPOSE: Collagen type 4 alpha 1 (COL4A1) and alpha 2 (COL4A2) chains, encoded by COL4A1 and COL4A2, are essential for basemen …
160 results