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Items: 1 to 20 of 416

1.
The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders
Giovanny Fuentevilla-Álvarez, María Elena Soto, Yazmín Estela Torres-Paz, Sergio Enrique Meza-Toledo, Gilberto Vargas-Alarcón, Nadia González-Moyotl, Israel Pérez-Torres, Linaloe Manzano-Pech, Ana Maria Mejia, Claudia Huesca-Gómez, Ricardo Gamboa
Biomol Biomed. 2024 Apr 1; 24(2): 302–314. Published online 2024 Apr 1. doi: 10.17305/bb.2023.9578
PMCID:
PMC10950338
ArticlePDF–4.1M
2.
Marfan's syndrome: an overview
Shi-Min Yuan, Hua Jing
Sao Paulo Med J. 2010; 128(6): 360–366. Published online 2010 Dec 2. doi: 10.1590/S1516-31802010000600009
PMCID:
PMC10948077
ArticlePDF–596K
3.
miRNA Regulation of Cell Phenotype and Parietal Remodeling in Atherosclerotic and Non-Atherosclerotic Aortic Aneurysms: Differences and Similarities
Sonia Terriaca, Amedeo Ferlosio, Maria Giovanna Scioli, Francesca Coppa, Fabio Bertoldo, Calogera Pisano, Beatrice Belmonte, Carmela Rita Balistreri, Augusto Orlandi
Int J Mol Sci. 2024 Mar; 25(5): 2641. Published online 2024 Feb 24. doi: 10.3390/ijms25052641
PMCID:
PMC10932122
ArticlePDF–1.6M
4.
In vivo phenotypic vascular dysfunction extends beyond the aorta in a mouse model for fibrillin-1 (Fbn1) mutation
T. Curry, M. E. Barrameda, T. Currier Thomas, M. Esfandiarei
Sci Rep. 2024; 14: 5779. Published online 2024 Mar 9. doi: 10.1038/s41598-024-56438-y
PMCID:
PMC10924961
ArticlePDF–2.8M
5.
Versican accumulation drives Nos2 induction and aortic disease in Marfan syndrome via Akt activation
María Jesús Ruiz-Rodríguez, Jorge Oller, Sara Martínez-Martínez, Iván Alarcón-Ruiz, Marta Toral, Yilin Sun, Ángel Colmenar, María José Méndez-Olivares, Dolores López-Maderuelo, Christine B Kern, J Francisco Nistal, Arturo Evangelista, Gisela Teixido-Tura, Miguel R Campanero, Juan Miguel Redondo
EMBO Mol Med. 2024 Jan; 16(1): 132–157. Published online 2024 Jan 2. doi: 10.1038/s44321-023-00009-7
PMCID:
PMC10897446
ArticlePDF–14M
6.
Uncovering the Hidden World of Aqueous Humor Proteins for Discovery of Biomarkers for Marfan Syndrome
Yumeng Shi, Jiahui Chen, Lei Cai, Xueling Zhang, Zexu Chen, Jin Yang, Yongxiang Jiang, Yi Lu
Adv Sci (Weinh) 2024 Feb; 11(6): 2303161. Published online 2023 Dec 13. doi: 10.1002/advs.202303161
PMCID:
PMC10853735
ArticlePDF–8.0M
7.
Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification
Xinxin Lu, Ren Wang, Mingjie Li, Biao Zhang, Huiying Rao, Xiaoli Huang, Xijun Chen, Yan’an Wu
BMC Med Genomics. 2024; 17: 47. Published online 2024 Feb 5. doi: 10.1186/s12920-024-01822-w
PMCID:
PMC10840365
ArticlePDF–2.5M
8.
Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing
Jee Ah Kim, Mi‐Ae Jang, Shin Yi Jang, Duk‐Kyung Kim, Young‐gon Kim, Jong‐Won Kim, Taek Kyu Park, Ja‐Hyun Jang
J Clin Lab Anal. 2024 Jan; 38(1-2): e25009. Published online 2024 Jan 17. doi: 10.1002/jcla.25009
PMCID:
PMC10829686
ArticlePDF–2.8M
9.
Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines
Seo Wan Kim, Boyeon Kim, Yoonjung Kim, Kyung-A Lee
Ann Lab Med. 2024 May 1; 44(3): 271–278. Published online 2023 Oct 16. doi: 10.3343/alm.2023.0152
PMCID:
PMC10813823
ArticlePDF–296K
10.
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
Elin Ola Klemenzdottir, Gudny Anna Arnadottir, Brynjar Orn Jensson, Adalbjorg Jonasdottir, Hildigunnur Katrinardottir, Run Fridriksdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Sigurjon Axel Gudjonsson, Jon Johannes Jonsson, Vigdis Stefansdottir, Ragnar Danielsen, Astridur Palsdottir, Hakon Jonsson, Agnar Helgason, Olafur Thor Magnusson, Unnur Thorsteinsdottir, Hans Tomas Bjornsson, Kari Stefansson, Patrick Sulem
Eur J Hum Genet. 2024 Jan; 32(1): 44–51. Published online 2023 Sep 8. doi: 10.1038/s41431-023-01455-0
PMCID:
PMC10772070
ArticlePDF–722K
11.
A novel pathogenic variant located just upstream of the C‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome
Satoshi Ishii, Takayuki Fujiwara, Hiroki Yagi, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Ryo Inuzuka, Yuki Taniguchi, Masaru Hatano, Issei Komuro
Mol Genet Genomic Med. 2023 Dec; 11(12): e2257. Published online 2023 Oct 20. doi: 10.1002/mgg3.2257
PMCID:
PMC10724497
ArticlePDF–7.6M
12.
Analysis of GPR126 polymorphisms and their relationship with scoliosis in Marfan syndrome and Marfan-like syndrome in Mexican patients
Maria Elena Soto, Giovanny Fuentevilla-Alvarez, Solange Gabriela Koretzky, Gilberto Vargas-Alarcón, Yazmín Estela Torres-Paz, Sergio Enrique Meza-Toledo, Israel Pérez-Torres, Claudia Huesca-Gómez, Ricardo Gamboa
Biomol Biomed. 2023 Dec 1; 23(6): 976–983. Published online 2023 Dec 1. doi: 10.17305/bb.2023.9268
PMCID:
PMC10655884
ArticlePDF–3.5M
13.
Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome
Aurelija Kemezyte, Ruta Gegieckiene, Birute Burnyte
BMC Pediatr. 2023; 23: 539. Published online 2023 Oct 28. doi: 10.1186/s12887-023-04357-8
PMCID:
PMC10612290
ArticlePDF–1.2M
14.
miR-632 Induces DNAJB6 Inhibition Stimulating Endothelial-to-Mesenchymal Transition and Fibrosis in Marfan Syndrome Aortopathy
Sonia Terriaca, Maria Giovanna Scioli, Calogera Pisano, Giovanni Ruvolo, Amedeo Ferlosio, Augusto Orlandi
Int J Mol Sci. 2023 Oct; 24(20): 15133. Published online 2023 Oct 13. doi: 10.3390/ijms242015133
PMCID:
PMC10607153
ArticlePDF–8.1M
15.
Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report
Su Hyun Yoon, Younghwa Kong
Medicine (Baltimore) 2021 Feb 12; 100(6): e24301. Published online 2021 Feb 12. doi: 10.1097/MD.0000000000024301
PMCID:
PMC10545169
ArticlePDF–639K
16.
Life-Threatening Aortic Dissection during Pregnancy: A Case Report of Undiagnosed FBN1-Related Marfan Syndrome at 39 Weeks Gestation
Carmelina Gurrieri, Westley T. Manske, Carla Williams, Joseph C. Wildenberg, Rachel J. Keppers, Tiziano Tallarita, Nishant Saran, Andrew D. Calvin
Am J Case Rep. 2023; 24: e940628-1–e940628-6. Published online 2023 Sep 25. doi: 10.12659/AJCR.940628
PMCID:
PMC10534165
ArticlePDF–1.3M
17.
TGFβ−2 haploinsufficiency causes early death in mice with Marfan syndrome
Nalani Sachan, Colin K.L. Phoon, Lior Zilberberg, Matthias C. Kugler, Taylor Ene, Shana B. Mintz, Sae-Il Murtada, Dar Weiss, Glenn I. Fishman, Jay D. Humphrey, Daniel B. Rifkin
Matrix Biol. Author manuscript; available in PMC 2023 Sep 27.
Published in final edited form as: Matrix Biol. 2023 Aug; 121: 41–55. Published online 2023 May 20. doi: 10.1016/j.matbio.2023.05.004
PMCID:
PMC10527763
ArticlePDF–1.6M
18.
17 β-Estradiol Impedes Aortic Root Dilation and Rupture in Male Marfan Mice
Louis Saddic, Sean Escopete, Lior Zilberberg, Shannon Kalsow, Divya Gupta, Mansoureh Eghbali, Sarah Parker
Int J Mol Sci. 2023 Sep; 24(17): 13571. Published online 2023 Sep 1. doi: 10.3390/ijms241713571
PMCID:
PMC10487461
ArticlePDF–6.0M
19.
Genetic Basis, New Diagnostic Approaches, and Updated Therapeutic Strategies of the Syndromic Aortic Diseases: Marfan, Loeys–Dietz, and Vascular Ehlers–Danlos Syndrome
Laura Asta, Gianluca A. D’Angelo, Daniele Marinelli, Umberto Benedetto
Int J Environ Res Public Health. 2023 Aug; 20(16): 6615. Published online 2023 Aug 20. doi: 10.3390/ijerph20166615
PMCID:
PMC10454608
ArticlePDF–5.6M
20.
Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome
Ze-Xu Chen, Wan-Nan Jia, Tian-Hui Chen, Jia-Hao Hong, Yang Sun, Yan Liu, Ling-Hao Song, Yong-Xiang Jiang
Invest Ophthalmol Vis Sci. 2023 Jul; 64(10): 28. Published online 2023 Jul 21. doi: 10.1167/iovs.64.10.28
PMCID:
PMC10365134
ArticlePDF–1.8M

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