FBN1 c.3115T>G ;(p.C1039G)

Variant ID: 15-48780658-A-C

NM_000138.4(FBN1):c.3115T>G;(p.C1039G)

This variant was identified in 126 publications

View GRCh38 version.




Publications:


TGFβ signaling pathways in human health and disease.

Frontiers In Molecular Biosciences
Chen, Pei-Yu PY; Qin, Lingfeng L; Simons, Michael M
Publication Date: 2023

Variant appearance in text: FBN1: C1039G
PubMed Link: 37325472
Variant Present in the following documents:
  • Main text
  • fmolb-10-1113061.pdf
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17 β-estradiol impedes aortic root dilation and rupture in male Marfan mice.

Biorxiv : The Preprint Server For Biology
Saddic, Louis L; Escopete, Sean S; Zilberberg, Lior L; Kalsow, Shannon S; Gupta, Divya D; Egbhali, Mansoureh M; Parker, Sarah S
Publication Date: 2023-05-12

Variant appearance in text: FBN1: C1039G
PubMed Link: 37215011
Variant Present in the following documents:
  • Main text
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Extracellular matrix and vascular dynamics in the kidney of a murine model for Marfan syndrome.

Plos One
de Souza, Rodrigo Barbosa RB; Lemes, Renan Barbosa RB; Foresto-Neto, Orestes O; Cassiano, Luara Lucena LL; Reinhardt, Dieter P DP; Meek, Keith M KM; Koh, Ivan Hong Jun IHJ; Lewis, Philip N PN; Pereira, Lygia V LV
Publication Date: 2023

Variant appearance in text: FBN1: C1039G
PubMed Link: 37159453
Variant Present in the following documents:
  • Main text
  • pone.0285418.pdf
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The mechanism and therapy of aortic aneurysms.

Signal Transduction And Targeted Therapy
Gao, Jianing J; Cao, Huanhuan H; Hu, Gaofei G; Wu, Yufei Y; Xu, Yangkai Y; Cui, Hongtu H; Lu, Hong S HS; Zheng, Lemin L
Publication Date: 2023-02-03

Variant appearance in text: FBN1: C1039G
PubMed Link: 36737432
Variant Present in the following documents:
  • Main text
  • 41392_2023_Article_1325.pdf
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Molecular Mechanisms in Genetic Aortopathy-Signaling Pathways and Potential Interventions.

International Journal Of Molecular Sciences
Dong, Charlotte Xue CX; Malecki, Cassandra C; Robertson, Elizabeth E; Hambly, Brett B; Jeremy, Richmond R
Publication Date: 2023-01-16

Variant appearance in text: FBN1: C1039G
PubMed Link: 36675309
Variant Present in the following documents:
  • Main text
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Novel and recurrent FBN1 mutations causing Marfan syndrome in two Chinese families.

Frontiers In Medicine
Li, Dandan D; Qiao, Jun J; Huang, Dandan D; Guo, Ruru R; Ji, Jian J; Liu, Wei W
Publication Date: 2022

Variant appearance in text: FBN1: C1039G
PubMed Link: 36582279
Variant Present in the following documents:
  • Main text
  • fmed-09-1086844.pdf
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YAP/TAZ dull the STING of aging.

The Journal Of Cardiovascular Aging
Francisco, Jamie J; Del Re, Dominic P DP
Publication Date: 2022

Variant appearance in text: FBN1: C1039G
PubMed Link: 36337727
Variant Present in the following documents:
  • Main text
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Treatment With Methotrexate Associated With Lipid Core Nanoparticles Prevents Aortic Dilation in a Murine Model of Marfan Syndrome.

Frontiers In Cardiovascular Medicine
Guido, Maria Carolina MC; Lopes, Natalia de Menezes NM; Albuquerque, Camila Inagaki CI; Tavares, Elaine Rufo ER; Jensen, Leonardo L; Carvalho, Priscila de Oliveira PO; Tavoni, Thauany Martins TM; Dias, Ricardo Ribeiro RR; Pereira, Lygia da Veiga LDV; Laurindo, Francisco Rafael Martins FRM; Maranhão, Raul Cavalcante RC
Publication Date: 2022

Variant appearance in text: FBN1: C1039G
PubMed Link: 35757348
Variant Present in the following documents:
  • fcvm-09-893774.pdf
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Molecular Imaging of Aortic Aneurysm and Its Translational Power for Clinical Risk Assessment.

Frontiers In Medicine
Rastogi, Vinamr V; Stefens, Sanne J M SJM; Houwaart, Judith J; Verhagen, Hence J M HJM; de Bruin, Jorg L JL; van der Pluijm, Ingrid I; Essers, Jeroen J
Publication Date: 2022

Variant appearance in text: MFS1: C1039G
PubMed Link: 35492343
Variant Present in the following documents:
  • fmed-09-814123.pdf
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Is physical activity a future therapy for patients with Marfan syndrome?

Orphanet Journal Of Rare Diseases
Jouini, Steeve S; Milleron, Olivier O; Eliahou, Ludivine L; Jondeau, Guillaume G; Vitiello, Damien D
Publication Date: 2022-02-10

Variant appearance in text: FBN1: C1039G
PubMed Link: 35144638
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2198.pdf
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Is physical activity a future therapy for patients with Marfan syndrome?

Orphanet Journal Of Rare Diseases
Jouini, Steeve S; Milleron, Olivier O; Eliahou, Ludivine L; Jondeau, Guillaume G; Vitiello, Damien D
Publication Date: 2022-02-10

Variant appearance in text: FBN1: C1039G
PubMed Link: 35144638
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2198.pdf
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Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.

International Journal Of Molecular Sciences
Verhagen, Judith M A JMA; Burger, Joyce J; Bekkers, Jos A JA; den Dekker, Alexander T AT; von der Thüsen, Jan H JH; Zajec, Marina M; Brüggenwirth, Hennie T HT; van der Sterre, Marianne L T MLT; van den Born, Myrthe M; Luider, Theo M TM; van IJcken, Wilfred F J WFJ; Wessels, Marja W MW; Essers, Jeroen J; Roos-Hesselink, Jolien W JW; van der Pluijm, Ingrid I; van de Laar, Ingrid M B H IMBH; Brosens, Erwin E
Publication Date: 2021-12-31

Variant appearance in text: FBN1: C1039G
PubMed Link: 35008861
Variant Present in the following documents:
  • Main text
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Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.

International Journal Of Molecular Sciences
Verhagen, Judith M A JMA; Burger, Joyce J; Bekkers, Jos A JA; den Dekker, Alexander T AT; von der Thüsen, Jan H JH; Zajec, Marina M; Brüggenwirth, Hennie T HT; van der Sterre, Marianne L T MLT; van den Born, Myrthe M; Luider, Theo M TM; van IJcken, Wilfred F J WFJ; Wessels, Marja W MW; Essers, Jeroen J; Roos-Hesselink, Jolien W JW; van der Pluijm, Ingrid I; van de Laar, Ingrid M B H IMBH; Brosens, Erwin E
Publication Date: 2021-12-31

Variant appearance in text: FBN1: C1039G
PubMed Link: 35008861
Variant Present in the following documents:
  • Main text
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Progressive Microstructural Deterioration Dictates Evolving Biomechanical Dysfunction in the Marfan Aorta.

Frontiers In Cardiovascular Medicine
Cavinato, Cristina C; Chen, Minghao M; Weiss, Dar D; Ruiz-Rodríguez, Maria Jesús MJ; Schwartz, Martin A MA; Humphrey, Jay D JD
Publication Date: 2021

Variant appearance in text: FBN1: C1039G
PubMed Link: 34977201
Variant Present in the following documents:
  • Main text
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Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.

Frontiers In Genetics
Arnaud, Pauline P; Mougin, Zakaria Z; Boileau, Catherine C; Le Goff, Carine C
Publication Date: 2021

Variant appearance in text: FBN1: C1039G
PubMed Link: 34912367
Variant Present in the following documents:
  • Main text
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Respiratory manifestations of Marfan syndrome: a narrative review.

Journal Of Thoracic Disease
Tun, Mon Hnin MH; Borg, Bryan B; Godfrey, Maurice M; Hadley-Miller, Nancy N; Chan, Edward D ED
Publication Date: 2021-10

Variant appearance in text: FBN1: C1039G
PubMed Link: 34795948
Variant Present in the following documents:
  • Main text
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Initial Angiotensin Receptor Blocker Response in Young Marfan Patients Decreases After 3 Years of Treatment.

Pediatric Cardiology
Pees, Christiane C; Heno, Julian J; Michel-Behnke, Ina I
Publication Date: 2022-03

Variant appearance in text: FBN1: C1039G
PubMed Link: 34757469
Variant Present in the following documents:
  • Main text
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Programmed cell death in aortic aneurysm and dissection: A potential therapeutic target.

Journal Of Molecular And Cellular Cardiology
Chakraborty, Abhijit A; Li, Yang Y; Zhang, Chen C; Li, Yanming Y; LeMaire, Scott A SA; Shen, Ying H YH
Publication Date: 2021-09-28

Variant appearance in text: FBN1: C1039G
PubMed Link: 34597613
Variant Present in the following documents:
  • Main text
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Oxidative Stress-Related Susceptibility to Aneurysm in Marfan's Syndrome.

Biomedicines
Rysz, Jacek J; Gluba-Brzózka, Anna A; Rokicki, Robert R; Franczyk, Beata B
Publication Date: 2021-09-06

Variant appearance in text: FBN1: C1039G
PubMed Link: 34572356
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01171.pdf
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An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome.

Journal Of Experimental Pharmacology
Deleeuw, Violette V; De Clercq, Adelbert A; De Backer, Julie J; Sips, Patrick P
Publication Date: 2021

Variant appearance in text: FBN1: Cys1039Gly
PubMed Link: 34408505
Variant Present in the following documents:
  • Main text
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The Expression Patterns and Roles of Lysyl Oxidases in Aortic Dissection.

Frontiers In Cardiovascular Medicine
Yi, Xin X; Zhou, Yi Y; Chen, Yue Y; Feng, Xin X; Liu, Chang C; Jiang, Ding-Sheng DS; Geng, Jing J; Li, Xiaoyan X; Jiang, Xuejun X; Fang, Ze-Min ZM
Publication Date: 2021

Variant appearance in text: FBN1: C1039G
PubMed Link: 34307505
Variant Present in the following documents:
  • Main text
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The Molecular Genetics of Marfan Syndrome.

International Journal Of Medical Sciences
Du, Qiu Q; Zhang, Dingding D; Zhuang, Yue Y; Xia, Qiongrong Q; Wen, Taishen T; Jia, Haiping H
Publication Date: 2021

Variant appearance in text: FBN1: C1039G
PubMed Link: 34220303
Variant Present in the following documents:
  • Main text
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Blood pressure-independent inhibition of Marfan aortic root widening by the angiotensin II receptor blocker valsartan.

Physiological Reports
Tehrani, Arash Y AY; White, Zoe Z; Milad, Nadia N; Esfandiarei, Mitra M; Seidman, Michael A MA; Bernatchez, Pascal P
Publication Date: 2021-05

Variant appearance in text: FBN1: C1039G
PubMed Link: 34042309
Variant Present in the following documents:
  • Main text
  • PHY2-9-e14877.pdf
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Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO.

Nature Communications
de la Fuente-Alonso, Andrea A; Toral, Marta M; Alfayate, Alvaro A; Ruiz-Rodríguez, María Jesús MJ; Bonzón-Kulichenko, Elena E; Teixido-Tura, Gisela G; Martínez-Martínez, Sara S; Méndez-Olivares, María José MJ; López-Maderuelo, Dolores D; González-Valdés, Ileana I; Garcia-Izquierdo, Eusebio E; Mingo, Susana S; Martín, Carlos E CE; Muiño-Mosquera, Laura L; De Backer, Julie J; Nistal, J Francisco JF; Forteza, Alberto A; Evangelista, Arturo A; Vázquez, Jesús J; Campanero, Miguel R MR; Redondo, Juan Miguel JM
Publication Date: 2021-05-11

Variant appearance in text: FBN1: C1039G
PubMed Link: 33976159
Variant Present in the following documents:
  • Main text
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Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Plos One
Jensen, Sacha A SA; Atwa, Ondine O; Handford, Penny A PA
Publication Date: 2021

Variant appearance in text: FBN1: C1039G
PubMed Link: 33735269
Variant Present in the following documents:
  • Main text
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Extracellular Tuning of Mitochondrial Respiration Leads to Aortic Aneurysm.

Circulation
Oller, Jorge J; Gabandé-Rodríguez, Enrique E; Ruiz-Rodríguez, María Jesús MJ; Desdín-Micó, Gabriela G; Aranda, Juan Francisco JF; Rodrigues-Diez, Raquel R; Ballesteros-Martínez, Constanza C; Blanco, Eva María EM; Roldan-Montero, Raquel R; Acuña, Pedro P; Forteza Gil, Alberto A; Martín-López, Carlos E CE; Nistal, J Francisco JF; Lino Cardenas, Christian L CL; Lindsay, Mark Evan ME; Martín-Ventura, José Luís JL; Briones, Ana M AM; Redondo, Juan Miguel JM; Mittelbrunn, María M
Publication Date: 2021-05-25

Variant appearance in text: FBN1: c1039g
PubMed Link: 33709773
Variant Present in the following documents:
  • Main text
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Integrated Network and Gene Ontology Analysis Identifies Key Genes and Pathways for Coronary Artery Diseases.

Avicenna Journal Of Medical Biotechnology
Prakash, Tejaswini T; Ramachandra, Nallur B NB
Publication Date: 2021

Variant appearance in text: FBN1: C1039G
PubMed Link: 33680369
Variant Present in the following documents:
  • Main text
  • AJMB-13-15.pdf
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Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.

Elife
Gori, Ilaria I; George, Roger R; Purkiss, Andrew G AG; Strohbuecker, Stephanie S; Randall, Rebecca A RA; Ogrodowicz, Roksana R; Carmignac, Virginie V; Faivre, Laurence L; Joshi, Dhira D; Kjær, Svend S; Hill, Caroline S CS
Publication Date: 2021-01-08

Variant appearance in text: FBN1: C1039G
PubMed Link: 33416497
Variant Present in the following documents:
  • Main text
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Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.

Elife
Gori, Ilaria I; George, Roger R; Purkiss, Andrew G AG; Strohbuecker, Stephanie S; Randall, Rebecca A RA; Ogrodowicz, Roksana R; Carmignac, Virginie V; Faivre, Laurence L; Joshi, Dhira D; Kjær, Svend S; Hill, Caroline S CS
Publication Date: 2021-01-08

Variant appearance in text: FBN1: C1039G
PubMed Link: 33416497
Variant Present in the following documents:
  • Main text
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Biology and Biomechanics of the Heart Valve Extracellular Matrix.

Journal Of Cardiovascular Development And Disease
Kodigepalli, Karthik M KM; Thatcher, Kaitlyn K; West, Toni T; Howsmon, Daniel P DP; Schoen, Frederick J FJ; Sacks, Michael S MS; Breuer, Christopher K CK; Lincoln, Joy J
Publication Date: 2020-12-16

Variant appearance in text: FBN1: C1039G
PubMed Link: 33339213
Variant Present in the following documents:
  • Main text
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Aortic "Disease-in-a-Dish": Mechanistic Insights and Drug Development Using iPSC-Based Disease Modeling.

Frontiers In Cell And Developmental Biology
Davaapil, Hongorzul H; Shetty, Deeti K DK; Sinha, Sanjay S
Publication Date: 2020

Variant appearance in text: FBN1: C1039G
PubMed Link: 33195187
Variant Present in the following documents:
  • Main text
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Inhibition of transforming growth factor-β signaling in myeloid cells ameliorates aortic aneurysmal formation in Marfan syndrome.

Plos One
Hara, Hironori H; Maemura, Sonoko S; Fujiwara, Takayuki T; Takeda, Norifumi N; Ishii, Satoshi S; Yagi, Hiroki H; Suzuki, Takaaki T; Harada, Mutsuo M; Toko, Haruhiro H; Kanaya, Tsubasa T; Ijichi, Hideaki H; Moses, Harold L HL; Takimoto, Eiki E; Morita, Hiroyuki H; Akazawa, Hiroshi H; Komuro, Issei I
Publication Date: 2020

Variant appearance in text: FBN1: C1039G
PubMed Link: 33175881
Variant Present in the following documents:
  • Main text
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Targeting feed-forward signaling of TGFβ/NOX4/DHFR/eNOS uncoupling/TGFβ axis with anti-TGFβ and folic acid attenuates formation of aortic aneurysms: Novel mechanisms and therapeutics.

Redox Biology
Huang, Kai K; Wang, Yongchen Y; Siu, Kin Lung KL; Zhang, Yixuan Y; Cai, Hua H
Publication Date: 2021-01

Variant appearance in text: FBN1: C1039G
PubMed Link: 33126053
Variant Present in the following documents:
  • Main text
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Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective study.

Orphanet Journal Of Rare Diseases
Muiño-Mosquera, Laura L; De Wilde, Hans H; Devos, Daniel D; Babin, Danilo D; Jordaens, Luc L; Demolder, Anthony A; De Groote, Katya K; De Wolf, Daniel D; De Backer, Julie J
Publication Date: 2020-10-23

Variant appearance in text: FBN1: C1039G
PubMed Link: 33097072
Variant Present in the following documents:
  • Main text
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Reactive Oxygen Species and Oxidative Stress in the Pathogenesis and Progression of Genetic Diseases of the Connective Tissue.

Antioxidants (Basel, Switzerland)
Egea, Gustavo G; Jiménez-Altayó, Francesc F; Campuzano, Victoria V
Publication Date: 2020-10-19

Variant appearance in text: FBN1: C1039G
PubMed Link: 33086603
Variant Present in the following documents:
  • Main text
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The Role of Inflammation and Myeloperoxidase-Related Oxidative Stress in the Pathogenesis of Genetically Triggered Thoracic Aortic Aneurysms.

International Journal Of Molecular Sciences
Malecki, Cassandra C; Hambly, Brett D BD; Jeremy, Richmond W RW; Robertson, Elizabeth N EN
Publication Date: 2020-10-16

Variant appearance in text: FBN1: C1039G
PubMed Link: 33081376
Variant Present in the following documents:
  • Main text
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A seX(X/Y) Article on Marfan Syndrome.

Journal Of The American Heart Association
Anderson, Nicole K NK; Juzwiak, Emily E EE; Dietz, Harry C HC
Publication Date: 2020-10-20

Variant appearance in text: FBN1: C1039G
PubMed Link: 33059494
Variant Present in the following documents:
  • Main text
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Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome.

Scientific Reports
Aalders, Jeffrey J; Léger, Laurens L; Van der Meeren, Louis L; Van den Vreken, Natasja N; Skirtach, Andre G AG; Sinha, Sanjay S; De Backer, Julie J; van Hengel, Jolanda J
Publication Date: 2020-10-07

Variant appearance in text: FBN1: c1039G
PubMed Link: 33028885
Variant Present in the following documents:
  • Main text
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Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review.

Diagnostics (Basel, Switzerland)
Demolder, Anthony A; von Kodolitsch, Yskert Y; Muiño-Mosquera, Laura L; De Backer, Julie J
Publication Date: 2020-09-25

Variant appearance in text: FBN1: C1039G
PubMed Link: 32992882
Variant Present in the following documents:
  • Main text
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Spontaneous Right Ventricular Pseudoaneurysms and Increased Arrhythmogenicity in a Mouse Model of Marfan Syndrome.

International Journal Of Molecular Sciences
Steijns, Felke F; Renard, Marjolijn M; Vanhomwegen, Marine M; Vermassen, Petra P; Desloovere, Jana J; Raedt, Robrecht R; Larsen, Lars E LE; Tóth, Máté I MI; De Backer, Julie J; Sips, Patrick P
Publication Date: 2020-09-24

Variant appearance in text: FBN1: C1039G
PubMed Link: 32987703
Variant Present in the following documents:
  • Main text
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Specific miRNA and Gene Deregulation Characterize the Increased Angiogenic Remodeling of Thoracic Aneurysmatic Aortopathy in Marfan Syndrome.

International Journal Of Molecular Sciences
D'Amico, Federico F; Doldo, Elena E; Pisano, Calogera C; Scioli, Maria Giovanna MG; Centofanti, Federica F; Proietti, Giulia G; Falconi, Mattia M; Sangiuolo, Federica F; Ferlosio, Amedeo A; Ruvolo, Giovanni G; Orlandi, Augusto A
Publication Date: 2020-09-19

Variant appearance in text: FBN1: C1039G
PubMed Link: 32961817
Variant Present in the following documents:
  • Main text
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Smooth Muscle α-Actin Expression in Mitral Valve Interstitial Cells is Important for Mediating Extracellular Matrix Remodeling.

Journal Of Cardiovascular Development And Disease
Dye, Bailey K BK; Butler, Catalina C; Lincoln, Joy J
Publication Date: 2020-08-19

Variant appearance in text: FBN1: C1039G
PubMed Link: 32824919
Variant Present in the following documents:
  • Main text
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Enhanced Notch3 signaling contributes to pulmonary emphysema in a Murine Model of Marfan syndrome.

Scientific Reports
Jespersen, Kathryn K; Liu, Zhibo Z; Li, Chenxin C; Harding, Paul P; Sestak, Kylie K; Batra, Rishi R; Stephenson, Christopher A CA; Foley, Ryan T RT; Greene, Harrison H; Meisinger, Trevor T; Baxter, B Timothy BT; Xiong, Wanfen W
Publication Date: 2020-07-02

Variant appearance in text: FBN1: C1039G
PubMed Link: 32616814
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_67941.pdf
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Inherited Thoracic Aortic Disease: New Insights and Translational Targets.

Circulation
Fletcher, Alexander J AJ; Syed, Maaz B J MBJ; Aitman, Timothy J TJ; Newby, David E DE; Walker, Niki L NL
Publication Date: 2020-05-12

Variant appearance in text: FBN1: C1039G
PubMed Link: 32392100
Variant Present in the following documents:
  • Main text
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Localized Antileptin Therapy Prevents Aortic Root Dilatation and Preserves Left Ventricular Systolic Function in a Murine Model of Marfan Syndrome.

Journal Of The American Heart Association
Fisch, Sudeshna S; Bachner-Hinenzon, Noa N; Ertracht, Offir O; Guo, Liang L; Arad, Yhara Y; Ben-Zvi, Danny D; Liao, Ronglih R; Schneiderman, Jacob J
Publication Date: 2020-05-18

Variant appearance in text: FBN1: C1039G
PubMed Link: 32378446
Variant Present in the following documents:
  • Main text
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Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders.

Journal Of Cell Communication And Signaling
Muthu, Muthu L ML; Reinhardt, Dieter P DP
Publication Date: 2020-06

Variant appearance in text: FBN1: C1039G
PubMed Link: 32279186
Variant Present in the following documents:
  • Main text
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Deficiency of Circulating Monocytes Ameliorates the Progression of Myxomatous Valve Degeneration in Marfan Syndrome.

Circulation
Kim, Andrew J AJ; Xu, Na N; Umeyama, Kazuhiro K; Hulin, Alexia A; Ponny, Sithara Raju SR; Vagnozzi, Ronald J RJ; Green, Ellis A EA; Hanson, Paul P; McManus, Bruce M BM; Nagashima, Hiroshi H; Yutzey, Katherine E KE
Publication Date: 2020-01-14

Variant appearance in text: FBN1: C1039G
PubMed Link: 31928435
Variant Present in the following documents:
  • Main text
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Anatomically specific reactive oxygen species production participates in Marfan syndrome aneurysm formation.

Journal Of Cellular And Molecular Medicine
Emrich, Fabian F; Penov, Kiril K; Arakawa, Mamoru M; Dhablania, Nathan N; Burdon, Grayson G; Pedroza, Albert J AJ; Koyano, Tiffany K TK; Kim, Young M YM; Raaz, Uwe U; Connolly, Andrew J AJ; Iosef, Cristiana C; Fischbein, Michael P MP
Publication Date: 2019-10

Variant appearance in text: FBN1: C1039G
PubMed Link: 31402541
Variant Present in the following documents:
  • JCMM-23-7000.pdf
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Systems pharmacology-based integration of human and mouse data for drug repurposing to treat thoracic aneurysms.

Jci Insight
Hansen, Jens J; Galatioto, Josephine J; Caescu, Cristina I CI; Arnaud, Pauline P; Calizo, Rhodora C RC; Spronck, Bart B; Murtada, Sae-Il SI; Borkar, Roshan R; Weinberg, Alan A; Azeloglu, Evren U EU; Bintanel-Morcillo, Maria M; Gallo, James M JM; Humphrey, Jay D JD; Jondeau, Guillaume G; Boileau, Catherine C; Ramirez, Francesco F; Iyengar, Ravi R
Publication Date: 2019-06-06

Variant appearance in text: FBN1: C1039G
PubMed Link: 31167969
Variant Present in the following documents:
  • Main text
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Soluble EMMPRIN levels discriminate aortic ectasia in Marfan syndrome patients.

Theranostics
Rurali, Erica E; Perrucci, Gianluca L GL; Gaetano, Raffaella R; Pini, Alessandro A; Moschetta, Donato D; Gentilini, Davide D; Nigro, Patrizia P; Pompilio, Giulio G
Publication Date: 2019

Variant appearance in text: FBN1: C1039G
PubMed Link: 31149040
Variant Present in the following documents:
  • Main text
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Oxytocin antagonism prevents pregnancy-associated aortic dissection in a mouse model of Marfan syndrome.

Science Translational Medicine
Habashi, Jennifer Pardo JP; MacFarlane, Elena Gallo EG; Bagirzadeh, Rustam R; Bowen, Caitlin C; Huso, Nicholas N; Chen, Yichun Y; Bedja, Djahida D; Creamer, Tyler J TJ; Rykiel, Graham G; Manning, Maurice M; Huso, David D; Dietz, Harry C HC
Publication Date: 2019-05-01

Variant appearance in text: FBN1: C1039G
PubMed Link: 31043570
Variant Present in the following documents:
  • Main text
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In vivo characterization of doxycycline-mediated protection of aortic function and structure in a mouse model of Marfan syndrome-associated aortic aneurysm.

Scientific Reports
Cui, Jason Z JZ; Lee, Ling L; Sheng, Xiaoye X; Chu, Fanny F; Gibson, Christine P CP; Aydinian, Taline T; Walker, David C DC; Sandor, George G S GGS; Bernatchez, Pascal P; Tibbits, Glen F GF; van Breemen, Cornelis C; Esfandiarei, Mitra M
Publication Date: 2019-02-14

Variant appearance in text: FBN1: C1039G
PubMed Link: 30765726
Variant Present in the following documents:
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An integrative systems approach identifies novel candidates in Marfan syndrome-related pathophysiology.

Journal Of Cellular And Molecular Medicine
Bhushan, Raghu R; Altinbas, Lukas L; Jäger, Marten M; Zaradzki, Marcin M; Lehmann, Daniel D; Timmermann, Bernd B; Clayton, Nicholas P NP; Zhu, Yunxiang Y; Kallenbach, Klaus K; Kararigas, Georgios G; Robinson, Peter N PN
Publication Date: 2019-04

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PubMed Link: 30677223
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Therapies for Thoracic Aortic Aneurysms and Acute Aortic Dissections.

Arteriosclerosis, Thrombosis, And Vascular Biology
Milewicz, Dianna M DM; Ramirez, Francesco F
Publication Date: 2019-02

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PubMed Link: 30651002
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MicroCT imaging reveals differential 3D micro-scale remodelling of the murine aorta in ageing and Marfan syndrome.

Theranostics
López-Guimet, Júlia J; Peña-Pérez, Lucía L; Bradley, Robert S RS; García-Canadilla, Patricia P; Disney, Catherine C; Geng, Hua H; Bodey, Andrew J AJ; Withers, Philip J PJ; Bijnens, Bart B; Sherratt, Michael J MJ; Egea, Gustavo G
Publication Date: 2018

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PubMed Link: 30613281
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Statins Reduce Thoracic Aortic Aneurysm Growth in Marfan Syndrome Mice via Inhibition of the Ras-Induced ERK (Extracellular Signal-Regulated Kinase) Signaling Pathway.

Journal Of The American Heart Association
Sato, Tetsuya T; Arakawa, Mamoru M; Tashima, Yasushi Y; Tsuboi, Eitoshi E; Burdon, Grayson G; Trojan, Jeffrey J; Koyano, Tiffany T; Youn, Young-Nam YN; Penov, Kiril K; Pedroza, Albert J AJ; Shabazzi, Mohammad M; Palmon, Itai I; Nguyen, Marie Noel MN; Connolly, Andrew J AJ; Yamaguchi, Atsushi A; Fischbein, Michael P MP
Publication Date: 2018-11-06

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PubMed Link: 30571378
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Central artery stiffness and thoracic aortopathy.

American Journal Of Physiology. Heart And Circulatory Physiology
Humphrey, J D JD; Tellides, G G
Publication Date: 2019-01-01

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PubMed Link: 30412443
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Epigenetic influences on genetically triggered thoracic aortic aneurysm.

Biophysical Reviews
Portelli, Stefanie S SS; Robertson, Elizabeth N EN; Malecki, Cassandra C; Liddy, Kiersten A KA; Hambly, Brett D BD; Jeremy, Richmond W RW
Publication Date: 2018-10

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PubMed Link: 30267337
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Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression.

Genes
Benarroch, Louise L; Aubart, Mélodie M; Gross, Marie-Sylvie MS; Jacob, Marie-Paule MP; Arnaud, Pauline P; Hanna, Nadine N; Jondeau, Guillaume G; Boileau, Catherine C
Publication Date: 2018-08-21

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PubMed Link: 30134586
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Epigenetics in Ascending Thoracic Aortic Aneurysm and Dissection.

Aorta (Stamford, Conn.)
Boileau, Adeline A; Lindsay, Mark E ME; Michel, Jean-Baptiste JB; Devaux, Yvan Y
Publication Date: 2018-02

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PubMed Link: 30079931
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TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections.

International Journal Of Molecular Sciences
Takeda, Norifumi N; Hara, Hironori H; Fujiwara, Takayuki T; Kanaya, Tsubasa T; Maemura, Sonoko S; Komuro, Issei I
Publication Date: 2018-07-21

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PubMed Link: 30037098
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Angiotensin, transforming growth factor β and aortic dilatation in Marfan syndrome: Of mice and humans.

International Journal Of Cardiology. Heart & Vasculature
Yu, Christopher C; Jeremy, Richmond W RW
Publication Date: 2018-03

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PubMed Link: 29876507
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An HDAC9-MALAT1-BRG1 complex mediates smooth muscle dysfunction in thoracic aortic aneurysm.

Nature Communications
Lino Cardenas, Christian L CL; Kessinger, Chase W CW; Cheng, Yisha Y; MacDonald, Carolyn C; MacGillivray, Thomas T; Ghoshhajra, Brian B; Huleihel, Luai L; Nuri, Saifar S; Yeri, Ashish S AS; Jaffer, Farouc A FA; Kaminski, Naftali N; Ellinor, Patrick P; Weintraub, Neal L NL; Malhotra, Rajeev R; Isselbacher, Eric M EM; Lindsay, Mark E ME
Publication Date: 2018-03-08

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PubMed Link: 29520069
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Participation of Arachidonic Acid Metabolism in the Aortic Aneurysm Formation in Patients with Marfan Syndrome.

Frontiers In Physiology
Soto, María E ME; Guarner-Lans, Verónica V; Herrera-Morales, Karla Y KY; Pérez-Torres, Israel I
Publication Date: 2018

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PubMed Link: 29483877
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A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Human Mutation
Schepers, Dorien D; Tortora, Giada G; Morisaki, Hiroko H; MacCarrick, Gretchen G; Lindsay, Mark M; Liang, David D; Mehta, Sarju G SG; Hague, Jennifer J; Verhagen, Judith J; van de Laar, Ingrid I; Wessels, Marja M; Detisch, Yvonne Y; van Haelst, Mieke M; Baas, Annette A; Lichtenbelt, Klaske K; Braun, Kees K; van der Linde, Denise D; Roos-Hesselink, Jolien J; McGillivray, George G; Meester, Josephina J; Maystadt, Isabelle I; Coucke, Paul P; El-Khoury, Elie E; Parkash, Sandhya S; Diness, Birgitte B; Risom, Lotte L; Scurr, Ingrid I; Hilhorst-Hofstee, Yvonne Y; Morisaki, Takayuki T; Richer, Julie J; Désir, Julie J; Kempers, Marlies M; Rideout, Andrea L AL; Horne, Gabrielle G; Bennett, Chris C; Rahikkala, Elisa E; Vandeweyer, Geert G; Alaerts, Maaike M; Verstraeten, Aline A; Dietz, Hal H; Van Laer, Lut L; Loeys, Bart B
Publication Date: 2018-05

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PubMed Link: 29392890
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