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199 results

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Page 1
LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
Su CT, See DHW, Huang YJ, Jao TM, Liu SY, Chou CY, Lai CF, Lin WC, Wang CY, Huang JW, Hung KY. Su CT, et al. Circ Res. 2023 Jun 23;133(1):71-85. doi: 10.1161/CIRCRESAHA.123.322494. Epub 2023 May 26. Circ Res. 2023. PMID: 37232163 Free article.
The energy profiles of Ltbp4-deficient mice and LTBP4-deficient HK-2 cells indicated decreased ATP production. ...Potential therapies focusing on LTBP4-associated angiogenesis and LTBP4-regulated DRP1-dependent mitochondrial division are relevant to re …
The energy profiles of Ltbp4-deficient mice and LTBP4-deficient HK-2 cells indicated decreased ATP production. ...Potential th …
LTBP4 in Health and Disease.
Su CT, Urban Z. Su CT, et al. Genes (Basel). 2021 May 23;12(6):795. doi: 10.3390/genes12060795. Genes (Basel). 2021. PMID: 34071145 Free PMC article. Review.
In humans, mutations in LTBP4 result in autosomal recessive cutis laxa type 1C, characterized by redundant skin, pulmonary emphysema, and valvular heart disease. ...In this review, we focus on medical disorders or diseases that may be manipulated by LTBP4 in order t …
In humans, mutations in LTBP4 result in autosomal recessive cutis laxa type 1C, characterized by redundant skin, pulmonary emphysema, …
LTBP4-Related Cutis Laxa.
Callewaert BL, Urban Z. Callewaert BL, et al. 2016 Feb 11 [updated 2023 Feb 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2016 Feb 11 [updated 2023 Feb 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 26866239 Free Books & Documents. Review.
Early demise has been associated with pulmonary emphysema. DIAGNOSIS/TESTING: The diagnosis of LTBP4-related cutis laxa is established in a proband with cutis laxa and biallelic pathogenic variants in LTBP4. ...Once the LTBP4 pathogenic variants have been ide …
Early demise has been associated with pulmonary emphysema. DIAGNOSIS/TESTING: The diagnosis of LTBP4-related cutis laxa is establishe …
LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
Su CT, Jao TM, Urban Z, Huang YJ, See DHW, Tsai YC, Lin WC, Huang JW. Su CT, et al. Cell Death Dis. 2021 Oct 13;12(10):943. doi: 10.1038/s41419-021-04214-5. Cell Death Dis. 2021. PMID: 34645813 Free PMC article.
Mice lacking the short LTBP4 isoform (Ltbp4S(-/-)) exhibited aggravated tubular interstitial fibrosis (TIF) after UUO, indicating that LTBP4 potentially protects against TIF. ...In vivo, aberrant angiogenesis, abnormal mitochondrial morphology and enhanced ox …
Mice lacking the short LTBP4 isoform (Ltbp4S(-/-)) exhibited aggravated tubular interstitial fibrosis (TIF) after UUO, indicat …
Epigenetic identification of LTBP4 as a putative tumor suppressor in breast cancer.
He W, Zhang J, Wen S, Li Y, Shen L, Zhou T, Wen Q, Fan Y. He W, et al. Epigenomics. 2024;16(14):999-1012. doi: 10.1080/17501911.2024.2388017. Epub 2024 Aug 28. Epigenomics. 2024. PMID: 39193795 Free PMC article.
Aim: To explore the LTBP4's expression, prognostic significance and molecular mechanism of action in breast cancer (BC).Methods: On the basis of omics datasets and experiments, we conducted a synthetical analysis of LTBP4 in BC.Results & conclusion: LTBP4 …
Aim: To explore the LTBP4's expression, prognostic significance and molecular mechanism of action in breast cancer (BC).Methods: On t …
LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients.
Kosac A, Pesovic J, Radenkovic L, Brkusanin M, Radovanovic N, Djurisic M, Radivojevic D, Mladenovic J, Ostojic S, Kovacevic G, Kravljanac R, Savic Pavicevic D, Milic Rasic V. Kosac A, et al. Genes (Basel). 2022 Aug 4;13(8):1385. doi: 10.3390/genes13081385. Genes (Basel). 2022. PMID: 36011296 Free PMC article.
We assessed the effect of the SPP1, CD40, and LTBP4 genes and DMD mutation location on loss of ambulation (LoA). METHODS: SNPs in SPP1-rs28357094, LTBP4-rs2303729, rs1131620, rs1051303, rs10880, and CD40-rs1883832 were genotyped, and their effect was assessed by sur …
We assessed the effect of the SPP1, CD40, and LTBP4 genes and DMD mutation location on loss of ambulation (LoA). METHODS: SNPs in SPP …
Non-Glycanated Biglycan and LTBP4: Leveraging the extracellular matrix for Duchenne Muscular Dystrophy therapeutics.
Fallon JR, McNally EM. Fallon JR, et al. Matrix Biol. 2018 Aug;68-69:616-627. doi: 10.1016/j.matbio.2018.02.016. Epub 2018 Feb 23. Matrix Biol. 2018. PMID: 29481844 Free PMC article. Review.
A second matrix-embedded protein being evaluated for therapeutic potential is latent TGFbeta binding protein 4 (LTBP4). Identified in a genomic screen for modifiers of muscular dystrophy, LTBP4 binds both TGFbeta and myostatin. Genetic studies identified the hinge r …
A second matrix-embedded protein being evaluated for therapeutic potential is latent TGFbeta binding protein 4 (LTBP4). Identified in …
Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature.
Zhang Q, Qin Z, Yi S, Wei H, Zhou XZ, Su J. Zhang Q, et al. BMC Med Genomics. 2020 Dec 10;13(1):183. doi: 10.1186/s12920-020-00842-6. BMC Med Genomics. 2020. PMID: 33302946 Free PMC article. Review.
Two novel pathogenic frame-shift variants [c.605_606delGT (p.Ser204fs * 8) and c.1719delC (p.Arg574fs * 199)] of the LTBP4 gene associated with ARCL IC were found which was later verified by Sanger sequencing. ...CONCLUSIONS: This is the first report of a Chinese infant wi …
Two novel pathogenic frame-shift variants [c.605_606delGT (p.Ser204fs * 8) and c.1719delC (p.Arg574fs * 199)] of the LTBP4 gene assoc …
Deleterious variants in LTBP4 are associated with severe pediatric sepsis.
Qin Y, Kernan KF, Bai Y, Shaffer JR, Urban Z, Canna S, Pollack MM, Meert K, Newth C, Shanley T, Harrison RE, Hall M, Carcillo JA, Park HJ. Qin Y, et al. Pediatr Res. 2025 Oct 11. doi: 10.1038/s41390-025-04420-3. Online ahead of print. Pediatr Res. 2025. PMID: 41076474
RESULTS: As a result, one whole-exome significant gene (LTBP4) and two suggestive significant genes (PLA2G4E, CCDC157) showed association with PedSep-D, the phenotype characterized by the most severe outcomes and highest inflammation. The associated variants in LTBP4 …
RESULTS: As a result, one whole-exome significant gene (LTBP4) and two suggestive significant genes (PLA2G4E, CCDC157) showed associa …
Disruption of LTBP4 Inhibition-Induced TGFbeta1 Activation Promoted Cell Proliferation and Metastasis in Skin Melanoma by Inhibiting the Activation of the Hippo-YAP1 Signaling Pathway.
Wang L, Tang D, Wu T, Sun F. Wang L, et al. Front Cell Dev Biol. 2022 Feb 17;9:673904. doi: 10.3389/fcell.2021.673904. eCollection 2021. Front Cell Dev Biol. 2022. PMID: 35252214 Free PMC article.
Based on two algorithms (LASSO and SVM-RFE), we obtained three candidate DEGs (LTBP4, CDHR1, and MARCKSL1). Among them, LTBP4 was identified as a diagnostic marker of melanoma (AUC = 0.985). ...LTBP4 inhibition reduced cell apoptosis and promoted cell prolife …
Based on two algorithms (LASSO and SVM-RFE), we obtained three candidate DEGs (LTBP4, CDHR1, and MARCKSL1). Among them, LTBP4 …
199 results