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Year Number of Results
2014 10
2015 14
2016 10
2017 5
2018 7
2019 10
2020 8
2021 15
2022 1
2023 1
2024 1

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70 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 …
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.
Pseudoexfoliation (PEX) is a multifactorial age-related disease involving deposition of extracellular proteinaceous aggregates on anterior ocular tissues. The present study aims to identify functional variants in fibulin-5 (FBLN5) as risk factors for the deve …
Pseudoexfoliation (PEX) is a multifactorial age-related disease involving deposition of extracellular proteinaceous aggregates on anterior o …
Fibulin-5 (FBLN5) gene polymorphism is associated with pelvic organ prolapse.
Khadzhieva MB, Kamoeva SV, Chumachenko AG, Ivanova AV, Volodin IV, Vladimirov IS, Abilev SK, Salnikova LE. Khadzhieva MB, et al. Maturitas. 2014 Aug;78(4):287-92. doi: 10.1016/j.maturitas.2014.05.003. Epub 2014 May 13. Maturitas. 2014. PMID: 24917111
The aim of the study was to investigate whether there is an association between common single-nucleotide polymorphisms (SNPs) of the FBLN5 gene and POP. STUDY DESIGN: A total of eleven tag SNPs of the FBLN5 gene were genotyped using the polymerase chain reaction wit …
The aim of the study was to investigate whether there is an association between common single-nucleotide polymorphisms (SNPs) of the FBLN …
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 …
Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies.
Papke CL, Yanagisawa H. Papke CL, et al. Matrix Biol. 2014 Jul;37:142-9. doi: 10.1016/j.matbio.2014.02.004. Epub 2014 Mar 6. Matrix Biol. 2014. PMID: 24613575 Free PMC article. Review.
Despite manifestation of systemic elastic fiber defects in all elastogenic tissues, fibulin-5 null (Fbln5(-/-)) mice have a normal lifespan. In contrast, fibulin-4 null (Fbln4(-/-)) mice die during the perinatal period due to rupture of aortic aneurysms, indi …
Despite manifestation of systemic elastic fiber defects in all elastogenic tissues, fibulin-5 null (Fbln5(-/-)) mice ha …
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.

Pearson's or Spearman's test determined correlations with prolapse grade. Axial contractility decreased with fibulin-5 deficiency and POP (p < 0.001), negatively correlated with prolapse grade (rho = - 0.80; p < 0.001), and positively correlated with musculari

…
Pearson's or Spearman's test determined correlations with prolapse grade. Axial contractility decreased with fibulin-5 deficie …
De novo variants in an extracellular matrix protein coding gene, fibulin-5 (FBLN5) are associated with pseudoexfoliation.
Padhy B, Kapuganti RS, Hayat B, Mohanty PP, Alone DP. Padhy B, et al. Eur J Hum Genet. 2019 Dec;27(12):1858-1866. doi: 10.1038/s41431-019-0482-6. Epub 2019 Jul 29. Eur J Hum Genet. 2019. PMID: 31358954 Free PMC article.
Fibulin-5 (FBLN5), an extracellular scaffold protein, plays a crucial role in the activation of Lysyl oxidase like-1 (LOXL1), a tropoelastin crosslinking enzyme, and subsequent deposition of elastin in the extracellular matrix. ...This study unravels two nove …
Fibulin-5 (FBLN5), an extracellular scaffold protein, plays a crucial role in the activation of Lysyl oxidase like-1 (L …
PKCepsilon Increases Extracellular Elastin and Fibulin-5/DANCE in Dermal Fibroblasts.
Nishizaki T. Nishizaki T. Cell Physiol Biochem. 2018;46(1):291-302. doi: 10.1159/000488430. Epub 2018 Mar 23. Cell Physiol Biochem. 2018. PMID: 29590645 Free article.
DCP-LA markedly increased elastic fibres in the extracellular space of cultured fibroblasts. DCP-LA-induced increase in extracellular elastin and fibulin-5/DANCE was abolished by a PKC inhibitor or knocking-down PKCepsilon. DCP-LA did not affect expression of mRNAs …
DCP-LA markedly increased elastic fibres in the extracellular space of cultured fibroblasts. DCP-LA-induced increase in extracellular elasti …
Fibulin-5 is Down-Regulated in Colorectal Cancer and Correlated with Clinicopathologic Characteristics.
Chen Z, Wang Z, Chen J, Li Z. Chen Z, et al. Clin Lab. 2018 Jan 1;64(1):25-31. doi: 10.7754/Clin.Lab.2017.170519. Clin Lab. 2018. PMID: 29479873
BACKGROUND: Fibulin-5 has recently been considered as a potential tumor suppressor in human cancers. ...CONCLUSIONS: Fibulin-5 is down-regulated in CRC and the reduced expression of fibulin-5 was correlated with malignant clinicopathologi …
BACKGROUND: Fibulin-5 has recently been considered as a potential tumor suppressor in human cancers. ...CONCLUSIONS: Fibuli …
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.
Mechanistically, citrullination protected FBLN5 from proteolysis and subsequent inactivation of its elastogenic activity. Furthermore, citrullinated but not native FBLN5 partially rescued in vitro elastogenesis in the absence of PAD activity. ...
Mechanistically, citrullination protected FBLN5 from proteolysis and subsequent inactivation of its elastogenic activity. Furthermore …
70 results