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2015 1
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60 results

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Page 1
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P. Birtel J, et al. Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. Sci Rep. 2018. PMID: 29555955 Free PMC article.
Targeted NGS also identified six potential novel genotype-phenotype correlations for FAM161A, INPP5E, MERTK, FBLN5, SEMA4A and IMPDH1. Clinical reassessment of genetically unsolved patients revealed subgroups with similar retinal phenotype, indicating a common molecular di …
Targeted NGS also identified six potential novel genotype-phenotype correlations for FAM161A, INPP5E, MERTK, FBLN5, SEMA4A and IMPDH1 …
Cancer-associated fibroblast-derived fibulin-5 promotes radioresistance in non-small-cell lung cancer.
Zhang R, Yan W, Yuan J, Ma Y, Ren Z, Chen X, Lv J, Wu M, Yu J, Chen D. Zhang R, et al. Cell Rep. 2025 Aug 26;44(8):116018. doi: 10.1016/j.celrep.2025.116018. Epub 2025 Jul 23. Cell Rep. 2025. PMID: 40711881 Free article.
This study aims to identify CAF-expressed molecules predicting radiotherapy efficacy and to clarify the resistance mechanisms in non-small-cell lung cancer (NSCLC). We identified higher Fibulin-5 (FBLN5) expression in the stromal regions of recurrent patients …
This study aims to identify CAF-expressed molecules predicting radiotherapy efficacy and to clarify the resistance mechanisms in non-small-c …
Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome.
Kapuganti RS, Bharati B, Mohanty PP, Alone DP. Kapuganti RS, et al. Biosci Rep. 2023 Mar 31;43(3):BSR20221622. doi: 10.1042/BSR20221622. Biosci Rep. 2023. PMID: 36794549 Free PMC article.
The present study aims to identify functional variants in fibulin-5 (FBLN5) as risk factors for the development of PEX. Thirteen tag single-nucleotide polymorphisms (SNPs) in FBLN5 were genotyped using TaqMan SNP genotyping technology to identify assoc …
The present study aims to identify functional variants in fibulin-5 (FBLN5) as risk factors for the development of PEX. …
PAD2-mediated citrullination of Fibulin-5 promotes elastogenesis.
Sun B, Tomita B, Salinger A, Tilvawala RR, Li L, Hakami H, Liu T, Tsoyi K, Rosas IO, Reinhardt DP, Thompson PR, Ho IC. Sun B, et al. Matrix Biol. 2021 Aug;102:70-84. doi: 10.1016/j.matbio.2021.07.001. Epub 2021 Jul 15. Matrix Biol. 2021. PMID: 34274450 Free PMC article.
By using an unbiased proteomic approach of lung tissues, we discovered that FBLN5 and LTBP4, two key elastogenic proteins, were temporally modified in mouse and human lungs. ...Mechanistically, citrullination protected FBLN5 from proteolysis and subsequent inactivat …
By using an unbiased proteomic approach of lung tissues, we discovered that FBLN5 and LTBP4, two key elastogenic proteins, were tempo …
KIF1Bbeta suppresses hepatocellular carcinoma by transporting and secreting FBLN5 to attenuate the integrin pathway.
Gao C, Wang Y, Zhou G, Shi P, Wang JA, Wu J, Liao S, Yan H, Qiu Y, Yan H, Zeng T, Li R, Zhang Y, Cao P, Yang C, Ye J, Liang R, Wang Y, Cheng F, Hao K, Zhang J, Hu X, Guo R, Wang Q, He F, Li Y, Zhou G. Gao C, et al. Gut. 2026 Apr 7;75(5):1030-1042. doi: 10.1136/gutjnl-2025-336230. Gut. 2026. PMID: 41087058
Mechanistically, KIF1Bbeta interacts with the cargo Fibulin-5 and mediates its intracellular anterograde transport and extracellular secretion, therefore, reducing the activation of the integrin pathway. ...
Mechanistically, KIF1Bbeta interacts with the cargo Fibulin-5 and mediates its intracellular anterograde transport and extrace …
Women with pelvic organ prolapse and fibulin-5 rs12589592 polymorphism.
Maeda FGR, Palos CC, Fernandes CE, Souto RPD, Oliveira E. Maeda FGR, et al. Rev Assoc Med Bras (1992). 2024 Dec 2;70(11):e20240687. doi: 10.1590/1806-9282.20240687. eCollection 2024. Rev Assoc Med Bras (1992). 2024. PMID: 39630761 Free PMC article.
OBJECTIVE: This study aims to access the frequency of single-nucleotide polymorphism rs12589592 (G>A) of the fibulin-5 gene in a Brazilian population with pelvic organ prolapse. METHODS: This was a case-control study, with menopausal women divided into two groups …
OBJECTIVE: This study aims to access the frequency of single-nucleotide polymorphism rs12589592 (G>A) of the fibulin-5 gene …
Cancer-associated fibroblast-derived fibulin-5 promotes epithelial-mesenchymal transition in diffuse-type gastric cancer via cAMP response element-binding protein pathway, showing poor prognosis.
Choi J, Kwak Y, Park M, Jo JY, Kang JH, Myeong-Cherl K, Kim HR, Kim G, Kong SH, Park DJ, Lee HS, Lee HJ, Kim JM, Kim SG, Yang HK, Ryu JK, Cho SJ. Choi J, et al. Exp Mol Med. 2025 May;57(5):1106-1119. doi: 10.1038/s12276-025-01447-8. Epub 2025 May 14. Exp Mol Med. 2025. PMID: 40369121 Free PMC article.
Furthermore, levels of secreted FBLN5 in patient blood samples correlated with its expression in primary tumors. In summary, fibulin-5 secreted by CAFs and interacted with DGC cells promotes EMT and is clinically associated with poor patient outcomes. These f …
Furthermore, levels of secreted FBLN5 in patient blood samples correlated with its expression in primary tumors. In summary, fibul …
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.
Safka Brozkova D, Stojkovic T, Haberlová J, Mazanec R, Windhager R, Fernandes Rosenegger P, Hacker S, Züchner S, Kochański A, Leonard-Louis S, Francou B, Latour P, Senderek J, Seeman P, Auer-Grumbach M. Safka Brozkova D, et al. Eur J Neurol. 2020 Dec;27(12):2568-2574. doi: 10.1111/ene.14463. Epub 2020 Sep 5. Eur J Neurol. 2020. PMID: 32757322
The most frequent cause is a duplication of PMP22 whilst point mutations in PMP22 and other genes are rare causes. Recently, FBLN5 mutations have been reported in CMT1 families. METHODS: Individuals with FBLN5-associated CMT1 were compiled from clinical and research …
The most frequent cause is a duplication of PMP22 whilst point mutations in PMP22 and other genes are rare causes. Recently, FBLN5 mu …
Systematic review and meta-analysis of genetic association studies of pelvic organ prolapse.
Allen-Brady K, Chua JWF, Cuffolo R, Koch M, Sorrentino F, Cartwright R. Allen-Brady K, et al. Int Urogynecol J. 2022 Jan;33(1):67-82. doi: 10.1007/s00192-021-04782-2. Epub 2021 Apr 24. Int Urogynecol J. 2022. PMID: 33893823 Free PMC article.
In pooled analyses we found significant associations for four polymorphisms: rs2228480 at the ESR1 gene (OR 0.67 95% CI 0.46-0.98, I(2) = 0.0%, Venice rating BAB), rs12589592 at the FBLN5 gene (OR 1.46 95% CI 1.11-1.82, I(2) = 36.3%, Venice rating BBB), rs484389 in the PGR …
In pooled analyses we found significant associations for four polymorphisms: rs2228480 at the ESR1 gene (OR 0.67 95% CI 0.46-0.98, I(2) = 0. …
Role of fibulin-5 insufficiency and prolapse progression on murine vaginal biomechanical function.
Clark-Patterson GL, Roy S, Desrosiers L, Knoepp LR, Sen A, Miller KS. Clark-Patterson GL, et al. Sci Rep. 2021 Oct 25;11(1):20956. doi: 10.1038/s41598-021-00351-1. Sci Rep. 2021. PMID: 34697337 Free PMC article.

The objective for this study was to evaluate the effect of fibulin-5 haploinsufficiency, and deficiency with progressive prolapse on the biaxial contractile and biomechanical function of the murine vagina. ...Circumferential (rho = 0.71; p < 0.001) and axial (rho

…
The objective for this study was to evaluate the effect of fibulin-5 haploinsufficiency, and deficiency with progressive prola …
60 results