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

Year Number of Results
2003 2
2004 1
2007 1
2008 1
2009 3
2012 2
2013 2
2014 2
2015 1
2019 1
2020 1
2021 1
2023 1
2024 0

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18 results

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Page 1
Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations.
Papke CL, Tsunezumi J, Ringuette LJ, Nagaoka H, Terajima M, Yamashiro Y, Urquhart G, Yamauchi M, Davis EC, Yanagisawa H. Papke CL, et al. Hum Mol Genet. 2015 Oct 15;24(20):5867-79. doi: 10.1093/hmg/ddv308. Epub 2015 Jul 28. Hum Mol Genet. 2015. PMID: 26220971 Free PMC article.
Homozygous recessive mutations in either EFEMP2 (encoding fibulin-4) or FBLN5 (encoding fibulin-5), critical genes for elastogenesis, lead to autosomal recessive cutis laxa types 1B and 1A, respectively. Previously, fibulin-4 was shown to bind lysyl oxidase (LOX), a …
Homozygous recessive mutations in either EFEMP2 (encoding fibulin-4) or FBLN5 (encoding fibulin-5), critical genes for elastog …
Recent updates on the molecular network of elastic fiber formation.
Shin SJ, Yanagisawa H. Shin SJ, et al. Essays Biochem. 2019 Sep 13;63(3):365-376. doi: 10.1042/EBC20180052. Print 2019 Sep 13. Essays Biochem. 2019. PMID: 31395654 Review.
In this review, we designated five proteins as key molecules in elastic fiber formation, including ELN, FBN1, fibulin-4 (FBLN4), fibulin-5 (FBLN5), and latent TGFbeta-binding protein-4 (LTBP4). ELN and FBN1 serve as building blocks for elastic fibers. FBLN5, FBLN4 a …
In this review, we designated five proteins as key molecules in elastic fiber formation, including ELN, FBN1, fibulin-4 (FBLN4), fibulin-5 ( …
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, indicating differe …
Despite manifestation of systemic elastic fiber defects in all elastogenic tissues, fibulin-5 null (Fbln5(-/-)) mice have a normal li …
Cutis laxa: a review.
Berk DR, Bentley DD, Bayliss SJ, Lind A, Urban Z. Berk DR, et al. J Am Acad Dermatol. 2012 May;66(5):842.e1-17. doi: 10.1016/j.jaad.2011.01.004. Epub 2012 Mar 2. J Am Acad Dermatol. 2012. PMID: 22387031 Review.
Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.
Park HJ, Choi YJ, Park CH, Kim TH, Lee SS, Moon DH, Lee KA, Lee SE, Park MS, Kim SY, Chang YS, Lee SJ, Jung JY, Lee JH, Lee SH, Kim T, Kim SR, Kim K, Byun MK. Park HJ, et al. Diagnostics (Basel). 2023 Jun 13;13(12):2047. doi: 10.3390/diagnostics13122047. Diagnostics (Basel). 2023. PMID: 37370942 Free PMC article.
Next-generation sequencing was performed to investigate mutations in the following genes: FLCN, TSC1, TSC2, CFTR, EFEMP2, ELN, FBLN5, LTBP4, and SERPINA1. BHD was diagnosed in 11 of the 31 enrolled subjects (35.5%; FLCN mutations). ...
Next-generation sequencing was performed to investigate mutations in the following genes: FLCN, TSC1, TSC2, CFTR, EFEMP2, ELN, FBL
Molecular characterization and cell type composition deconvolution of fibrosis in NAFLD.
Pantano L, Agyapong G, Shen Y, Zhuo Z, Fernandez-Albert F, Rust W, Knebel D, Hill J, Boustany-Kari CM, Doerner JF, Rippmann JF, Chung RT, Ho Sui SJ, Simon E, Corey KE. Pantano L, et al. Sci Rep. 2021 Sep 10;11(1):18045. doi: 10.1038/s41598-021-96966-5. Sci Rep. 2021. PMID: 34508113 Free PMC article.
We identified gene expression clusters that strongly correlate with fibrosis stage including four genes that have been found consistently across previously published transcriptomic studies on NASH i.e. COL1A2, EFEMP2, FBLN5 and THBS2. Using cell type deconvolution, …
We identified gene expression clusters that strongly correlate with fibrosis stage including four genes that have been found consistently ac …
Bioinformatic screening and identification of downregulated hub genes in adrenocortical carcinoma.
Xu F, Zhang P, Yuan M, Yang X, Chong T. Xu F, et al. Exp Ther Med. 2020 Sep;20(3):2730-2742. doi: 10.3892/etm.2020.8987. Epub 2020 Jul 10. Exp Ther Med. 2020. PMID: 32765768 Free PMC article.
A total of eight hub genes were identified from the most significant module; namely, calponin 1 (CNN1), myosin light chain kinase (MYLK), cysteine and glycine rich protein 1 (CSRP1), myosin heavy chain 11 (MYH11), fibulin extracellular matrix protein 2 (EFEMP2), fibulin 1 …
A total of eight hub genes were identified from the most significant module; namely, calponin 1 (CNN1), myosin light chain kinase (MYLK), cy …
Fibulins: physiological and disease perspectives.
Argraves WS, Greene LM, Cooley MA, Gallagher WM. Argraves WS, et al. EMBO Rep. 2003 Dec;4(12):1127-31. doi: 10.1038/sj.embor.7400033. EMBO Rep. 2003. PMID: 14647206 Free PMC article. Review.
Downregulation of several fibulin genes in prostate cancer.
Wlazlinski A, Engers R, Hoffmann MJ, Hader C, Jung V, Müller M, Schulz WA. Wlazlinski A, et al. Prostate. 2007 Dec 1;67(16):1770-80. doi: 10.1002/pros.20667. Prostate. 2007. PMID: 17929269
METHODS: Expression of FBLN1 (major splice forms C and D), FBLN4, FBLN5, SPOCK1, and TENC was compared between 47 prostate cancer samples and 13 benign prostatic tissues by quantitative RT-PCR. ...RESULTS: Our recent microarray analysis suggested downregulation of three fi …
METHODS: Expression of FBLN1 (major splice forms C and D), FBLN4, FBLN5, SPOCK1, and TENC was compared between 47 prostate cancer sam …
18 results