Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2022 2
2023 12
2024 25
2025 3

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

37 results

Results by year

Filters applied: . Clear all
Page 1
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
Zhang B, He R, Xu Z, Sun Y, Wei L, Li L, Liu Y, Guo W, Song L, Wang H, Lin Z, Ma L. Zhang B, et al. Orphanet J Rare Dis. 2023 Sep 1;18(1):261. doi: 10.1186/s13023-023-02860-w. Orphanet J Rare Dis. 2023. PMID: 37658401 Free PMC article.
Non-hotspot mutations were prevalent in patients with PIK3CA-related overgrowth spectrum, accounting for 50.0% (11/22) of detected mutations. The hotspot GNAQ p.R183Q and TEK p.L914F mutations were responsible for the majority of port-wine stain/Sturge-Weber syndrome and v …
Non-hotspot mutations were prevalent in patients with PIK3CA-related overgrowth spectrum, accounting for 50.0% (11/22) of detected mutations …
Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.
Brouillard P, Murtomäki A, Leppänen VM, Hyytiäinen M, Mestre S, Potier L, Boon LM, Revencu N, Greene A, Anisimov A, Salo MH, Hinttala R, Eklund L, Quéré I, Alitalo K, Vikkula M. Brouillard P, et al. J Clin Invest. 2024 May 30;134(14):e173586. doi: 10.1172/JCI173586. J Clin Invest. 2024. PMID: 38820174 Free PMC article.
By screening of a cohort of 755 individuals with PL, we identified two TIE1 (tyrosine kinase with immunoglobulin- and epidermal growth factor-like domains 1) missense variants and one truncating variant, all predicted to be pathogenic by bioinformatic algorithms. The TIE1 recepto …
By screening of a cohort of 755 individuals with PL, we identified two TIE1 (tyrosine kinase with immunoglobulin- and epidermal growth facto …
Genetic association of TIE2 with diabetic retinopathy and diabetic macular edema.
Yu J, Brelen ME, Chan CKM, Chen ZJ, Mohamed S, Yam JC, Lam DSC, Pang CP, Tham CC, Chen LJ. Yu J, et al. Asia Pac J Ophthalmol (Phila). 2024 May-Jun;13(3):100068. doi: 10.1016/j.apjo.2024.100068. Epub 2024 May 13. Asia Pac J Ophthalmol (Phila). 2024. PMID: 38750959 Free article.
PURPOSE: To evaluate the associations of the TIE2 gene with diabetic retinopathy (DR) and diabetic macular edema (DME). METHODS: This study included a Chinese cohort of 285 non-proliferative DR patients and 433 healthy controls. ...Thirty haplotype-tagging single-nucleotid …
PURPOSE: To evaluate the associations of the TIE2 gene with diabetic retinopathy (DR) and diabetic macular edema (DME). METHODS: This …
Comprehensive phenotypic and genomic characterization of venous malformations.
Hirose K, Hori Y, Ozeki M, Motooka D, Hata K, Tahara S, Matsui T, Kohara M, Maruyama K, Imanaka-Yoshida K, Toyosawa S, Morii E. Hirose K, et al. Hum Pathol. 2024 Mar;145:48-55. doi: 10.1016/j.humpath.2024.02.004. Epub 2024 Feb 15. Hum Pathol. 2024. PMID: 38367816 Free article.
A retrospective clinical, pathological, and genetic study of 114 patients with VMs was performed. TEK, PIK3CA, and combined TEK/PIK3CA mutations were identified in 49 (43%), 13 (11.4%), and 2 (1.75%) patients, respectively. TEK-mutant VMs more commonly occurr …
A retrospective clinical, pathological, and genetic study of 114 patients with VMs was performed. TEK, PIK3CA, and combined TEK …
Suppression of TCF4 promotes a ZC3H12A-mediated self-sustaining inflammatory feedback cycle involving IL-17RA/IL-17RE epidermal signaling.
Jiang Y, Gruszka D, Zeng C, Swindell WR, Gaskill C, Sorensen C, Brown W, Gangwar RS, Tsoi LC, Webster J, Sigurðardóttir SL, Sarkar MK, Uppala R, Kidder A, Xing X, Plazyo O, Xing E, Billi AC, Maverakis E, Kahlenberg JM, Gudjonsson JE, Ward NL. Jiang Y, et al. JCI Insight. 2024 Mar 12;9(8):e172764. doi: 10.1172/jci.insight.172764. JCI Insight. 2024. PMID: 38470486 Free PMC article.
Examination of lesional skin from the KC-Tie2 inflammatory dermatitis mouse model identified decreases in TCF4 protein concomitant with increases in IL-17C and Zc3h12a that reversed following the genetic elimination of Il17c, Il17ra, and Il17re and improvement in the skin …
Examination of lesional skin from the KC-Tie2 inflammatory dermatitis mouse model identified decreases in TCF4 protein concomitant wi …
Identification and transcriptomic assessment of latent profile pediatric septic shock phenotypes.
Atreya MR, Huang M, Moore AR, Zheng H, Hasin-Brumshtein Y, Fitzgerald JC, Weiss SL, Cvijanovich NZ, Bigham MT, Jain PN, Schwarz AJ, Lutfi R, Nowak J, Thomas NJ, Quasney M, Dahmer MK, Baines T, Haileselassie B, Lautz AJ, Stanski NL, Standage SW, Kaplan JM, Zingarelli B, Sahay R, Zhang B, Sweeney TE, Khatri P, Sanchez-Pinto LN, Kamaleswaran R. Atreya MR, et al. Crit Care. 2024 Jul 17;28(1):246. doi: 10.1186/s13054-024-05020-z. Crit Care. 2024. PMID: 39014377 Free PMC article.
NeuroD1 Regulated Endothelial Gene Expression to Modulate Transduction of AAV-PHP.eB and Recovery Progress after Ischemic Stroke.
He X, Wang X, Wang H, Wang T, Yang F, Chen Y, Pei Z, Bai Y, Li W, Wu Z, Chen G. He X, et al. Aging Dis. 2023 Dec 20;15(6):2632-2649. doi: 10.14336/AD.2023.1213. Aging Dis. 2023. PMID: 38270116 Free PMC article.
Surprisingly, after switching to therapeutic vector AAV-PHP.eB-NeuroD1-GFP, the viral vector successfully crossed blood vessels and infected brain cells. Using Tie2-cre transgenic mice, we demonstrated that NeuroD1 regulated endothelial gene expression to modulate AAV-PHP. …
Surprisingly, after switching to therapeutic vector AAV-PHP.eB-NeuroD1-GFP, the viral vector successfully crossed blood vessels and infected …
Systematic Druggable Genome-Wide Mendelian Randomization Identifies Therapeutic Targets for Functional Outcome After Ischemic Stroke.
Zhang LY, Chu YH, You YF, Dong MH, Pang XW, Chen L, Zhu LF, Yang S, Zhou LQ, Shang K, Deng G, Xiao J, Wang W, Qin C, Tian DS. Zhang LY, et al. J Am Heart Assoc. 2024 Aug 20;13(16):e034749. doi: 10.1161/JAHA.124.034749. Epub 2024 Aug 9. J Am Heart Assoc. 2024. PMID: 39119979 Free article.
Among >2600 druggable genes, genetically predicted expression of 16 genes (ABCC2, ATRAID, BLK, CD93, CHST13, NR1H3, NRBP1, PI3, RIPK4, SEMG1, SLC22A4, SLC22A5, SLCO3A1, TEK, TLR4, and WNT10B) demonstrated the causal associations with ordinal modified Rankin Scale (P< …
Among >2600 druggable genes, genetically predicted expression of 16 genes (ABCC2, ATRAID, BLK, CD93, CHST13, NR1H3, NRBP1, PI3, RIPK4, SE …
Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations.
Pham VC, Rödel CJ, Valentino M, Malinverno M, Paolini A, Münch J, Pasquier C, Onyeogaziri FC, Lazovic B, Girard R, Koskimäki J, Hußmann M, Keith B, Jachimowicz D, Kohl F, Hagelkruys A, Penninger JM, Schulte-Merker S, Awad IA, Hicks R, Magnusson PU, Faurobert E, Pagani M, Abdelilah-Seyfried S. Pham VC, et al. EMBO Mol Med. 2024 Nov;16(11):2827-2855. doi: 10.1038/s44321-024-00152-9. Epub 2024 Oct 14. EMBO Mol Med. 2024. PMID: 39402138 Free PMC article.
Whole-transcriptome datasets from zebrafish cardiovascular tissues and human endothelial cells reveal a role of CBX7/Cbx7a in the activation of KLF2 target genes including TEK, ANGPT1, WNT9, and endoMT-associated genes. Our findings uncover an intricate interplay in the re …
Whole-transcriptome datasets from zebrafish cardiovascular tissues and human endothelial cells reveal a role of CBX7/Cbx7a in the activation …
Human iPSC and CRISPR targeted gene knock-in strategy for studying the somatic TIE2(L914F) mutation in endothelial cells.
Lazovic B, Nguyen HT, Ansarizadeh M, Wigge L, Kohl F, Li S, Carracedo M, Kettunen J, Krimpenfort L, Elgendy R, Richter K, De Silva L, Bilican B, Singh P, Saxena P, Jakobsson L, Hong X, Eklund L, Hicks R. Lazovic B, et al. Angiogenesis. 2024 Aug;27(3):523-542. doi: 10.1007/s10456-024-09925-9. Epub 2024 May 21. Angiogenesis. 2024. PMID: 38771392 Free PMC article.
The analysis of TIE2 expression levels in TIE2(L914F) iECs showed a significantly lower expression of TIE2 on mRNA and protein level, which has not been observed before due to a lack of models with endogenous edited TIE2(L914F) and sparse patient data. …
The analysis of TIE2 expression levels in TIE2(L914F) iECs showed a significantly lower expression of TIE2 on mRNA and …
37 results