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

Year Number of Results
1993 5
1994 2
1995 4
1996 4
1997 7
1998 5
1999 6
2000 9
2001 6
2002 10
2003 6
2004 8
2005 7
2006 6
2007 7
2008 8
2009 16
2010 15
2011 9
2012 19
2013 9
2014 13
2015 12
2016 13
2017 12
2018 12
2019 20
2020 24
2021 25
2022 37
2023 26
2024 10

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328 results

Results by year

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Page 1
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.
Peeters S, De Kinderen P, Meester JAN, Verstraeten A, Loeys BL. Peeters S, et al. Hum Mutat. 2022 Jul;43(7):815-831. doi: 10.1002/humu.24383. Epub 2022 Apr 28. Hum Mutat. 2022. PMID: 35419902 Free PMC article. Review.
Whereas the musculoskeletal features of Marfan syndrome involve tall stature, arachnodactyly, joint hypermobility, and muscle hypoplasia, acromelic dysplasia patients present with short stature, brachydactyly, stiff joints, and hypermuscularity. Similarly, pathogenic variants in …
Whereas the musculoskeletal features of Marfan syndrome involve tall stature, arachnodactyly, joint hypermobility, and muscle hypoplasia, ac …
The Molecular Genetics of Marfan Syndrome.
Du Q, Zhang D, Zhuang Y, Xia Q, Wen T, Jia H. Du Q, et al. Int J Med Sci. 2021 May 27;18(13):2752-2766. doi: 10.7150/ijms.60685. eCollection 2021. Int J Med Sci. 2021. PMID: 34220303 Free PMC article. Review.
It has been shown that molecular genetic factors serve critical roles in the pathogenesis of MFS. FBN1 is associated with MFS and the other genes such as FBN2, transforming growth factor beta (TGF-beta) receptors (TGFBR1 and TGFBR2), latent TGF-beta-binding protein 2 (LTBP …
It has been shown that molecular genetic factors serve critical roles in the pathogenesis of MFS. FBN1 is associated with MFS and the other …
A comprehensive analysis of FBN2 in bladder cancer: A risk factor and the tumour microenvironment influencer.
Lu Z, Lu Z, Lai Y, Zhou H, Li Z, Cai W, Xu Z, Luo H, Chen Y, Li J, Zhang J, He Z, Tang F. Lu Z, et al. IET Syst Biol. 2023 Aug;17(4):162-173. doi: 10.1049/syb2.12067. Epub 2023 Jun 19. IET Syst Biol. 2023. PMID: 37337404 Free PMC article.
Finally, chemotherapy drug susceptibility analysis based on the high and low FBN2 groups was conducted. The authors found upregulated expression of FBN2 in BLCA and proved that FBN2 could be an independent prognostic factor for BLCA. ...The authors systematic …
Finally, chemotherapy drug susceptibility analysis based on the high and low FBN2 groups was conducted. The authors found upregulated …
FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.
Yang S, Li Z. Yang S, et al. Connect Tissue Res. 2024 Apr 11:1-12. doi: 10.1080/03008207.2024.2340004. Online ahead of print. Connect Tissue Res. 2024. PMID: 38602424
Furthermore, we identified exons 31 to 35 may be a hotspot region in FBN2 gene associated with severe cardiovascular phenotype. CONCLUSIONS: This study enriched the pathogenic spectrum of CCA and identified a hotspot region in FBN2 gene associated with severe cardio …
Furthermore, we identified exons 31 to 35 may be a hotspot region in FBN2 gene associated with severe cardiovascular phenotype. CONCL …
FBN2 Silencing Recapitulates Hypoxic Conditions and Induces Elastic Fiber Impairment in Human Dermal Fibroblasts.
Boizot J, Minville-Walz M, Reinhardt DP, Bouschbacher M, Sommer P, Sigaudo-Roussel D, Debret R. Boizot J, et al. Int J Mol Sci. 2022 Feb 5;23(3):1824. doi: 10.3390/ijms23031824. Int J Mol Sci. 2022. PMID: 35163744 Free PMC article.
Different hypoxic conditions in culture resulted in the arrest of elastic fiber synthesis. The present study demonstrated the involvement of FBN2 in regulating elastin deposition in adult skin models and described the specific impact of hypoxia on the elastin network witho …
Different hypoxic conditions in culture resulted in the arrest of elastic fiber synthesis. The present study demonstrated the involvement of …
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
Dynamics of CTCF- and cohesin-mediated chromatin looping revealed by live-cell imaging.
Gabriele M, Brandão HB, Grosse-Holz S, Jha A, Dailey GM, Cattoglio C, Hsieh TS, Mirny L, Zechner C, Hansen AS. Gabriele M, et al. Science. 2022 Apr 29;376(6592):496-501. doi: 10.1126/science.abn6583. Epub 2022 Apr 14. Science. 2022. PMID: 35420890 Free PMC article.
Unexpectedly, the Fbn2 loop was both rare and dynamic, with a looped fraction of approximately 3 to 6.5% and a median loop lifetime of approximately 10 to 30 minutes. Our results establish that the Fbn2 TAD is highly dynamic, and about 92% of the time, cohesin-extru …
Unexpectedly, the Fbn2 loop was both rare and dynamic, with a looped fraction of approximately 3 to 6.5% and a median loop lifetime o …
Ocular phenotype of Fbn2-null mice.
Shi Y, Tu Y, Mecham RP, Bassnett S. Shi Y, et al. Invest Ophthalmol Vis Sci. 2013 Nov 1;54(12):7163-73. doi: 10.1167/iovs.13-12687. Invest Ophthalmol Vis Sci. 2013. PMID: 24130178 Free PMC article.
PURPOSE: Fibrillin-2 (Fbn2) is the dominant fibrillin isoform expressed during development of the mouse eye. ...RESULTS: Fbn2(-/-) mice had a high incidence of anterior segment dysgenesis. ...
PURPOSE: Fibrillin-2 (Fbn2) is the dominant fibrillin isoform expressed during development of the mouse eye. ...RESULTS: Fbn2( …
Congenital Contractural Arachnodactyly.
Callewaert B. Callewaert B. 2001 Jan 23 [updated 2022 Jul 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2001 Jan 23 [updated 2022 Jul 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301560 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of CCA can be established in a proband with suggestive findings and a heterozygous FBN2 pathogenic variant identified by molecular genetic testing; however, locus heterogeneity is likely given that only 25%-75% of individuals with clinicall …
DIAGNOSIS/TESTING: The diagnosis of CCA can be established in a proband with suggestive findings and a heterozygous FBN2 pathogenic v …
FBN2 methylation is detected in the serum of colorectal cancer patients with hepatic metastasis.
Hibi K, Mizukami H, Saito M, Kigawa G, Nemoto H, Sanada Y. Hibi K, et al. Anticancer Res. 2012 Oct;32(10):4371-4. Anticancer Res. 2012. PMID: 23060561
RESULTS: Out of 78 patients with colorectal cancer, 49 (63%) exhibited methylation of FBN2 in their tumor tissue DNA, suggesting that FBN2 methylation frequently exists in colorectal cancer. We next examined the methylation status of FBN2 in the serum DNA of …
RESULTS: Out of 78 patients with colorectal cancer, 49 (63%) exhibited methylation of FBN2 in their tumor tissue DNA, suggesting that …
328 results