FBN1 c.6T>C ;(p.R2=)

Variant ID: 15-48936961-A-G

NM_000138.4(FBN1):c.6T>C;(p.R2=)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.

Npj Genomic Medicine
Wang, Zhigang Z; Xu, Hongen H; Xiang, Tianchao T; Liu, Danhua D; Xu, Fei F; Zhao, Lixiang L; Feng, Yonghua Y; Xu, Linan L; Liu, Jialu J; Fang, Ye Y; Liu, Huanfei H; Li, Ruijun R; Hu, Xinxin X; Guan, Jingyuan J; Liu, Longshan L; Feng, Guiwen G; Shen, Qian Q; Xu, Hong H; Frishman, Dmitrij D; Tang, Wenxue W; Guo, Jiancheng J; Rao, Jia J; Shang, Wenjun W
Publication Date: 2021-07-02

Variant appearance in text: FBN1: R2=
PubMed Link: 34215756
Variant Present in the following documents:
  • 41525_2021_219_MOESM1_ESM.pdf
View BVdb publication page



Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: FBN1: r2=
PubMed Link: 33262486
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.

Nature Genetics
Hysi, Pirro G PG; Choquet, Hélène H; Khawaja, Anthony P AP; Wojciechowski, Robert R; Tedja, Milly S MS; Yin, Jie J; Simcoe, Mark J MJ; Patasova, Karina K; Mahroo, Omar A OA; Thai, Khanh K KK; Cumberland, Phillippa M PM; Melles, Ronald B RB; Verhoeven, Virginie J M VJM; Vitart, Veronique V; Segre, Ayellet A; Stone, Richard A RA; Wareham, Nick N; Hewitt, Alex W AW; Mackey, David A DA; Klaver, Caroline C W CCW; MacGregor, Stuart S; , ; Khaw, Peng T PT; Foster, Paul J PJ; , ; Guggenheim, Jeremy A JA; , ; Rahi, Jugnoo S JS; Jorgenson, Eric E; Hammond, Christopher J CJ
Publication Date: 2020-04

Variant appearance in text: FBN1: r2=
PubMed Link: 32231278
Variant Present in the following documents:
  • EMS85881.pdf
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Expression of transforming growth factor β and matrix metalloproteinases in the aqueous humor of patients with congenital ectopia lentis.

Molecular Medicine Reports
Cao, Qianzhong Q; Xiao, Bing B; Jin, Guangming G; Lin, Jianqiang J; Wang, Yiyao Y; Young, Charlotte Aimee CA; Lin, Junxiong J; Zhou, Yijing Y; Zhang, Bo B; Cao, Mingzhe M; Wu, Kaili K; Zheng, Danying D
Publication Date: 2019-07

Variant appearance in text: FBN1: r2=
PubMed Link: 31180551
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unreliable Estimation of Aortic Pulse Wave Velocity Provided by the Mobil-O-Graph Algorithm-Based System in Marfan Syndrome.

Journal Of The American Heart Association
Salvi, Paolo P; Furlanis, Giulia G; Grillo, Andrea A; Pini, Alessandro A; Salvi, Lucia L; Marelli, Susan S; Rovina, Matteo M; Moretti, Francesco F; Gaetano, Raffaella R; Pintassilgo, Inês I; Faini, Andrea A; Fabris, Bruno B; Carretta, Renzo R; Parati, Gianfranco G
Publication Date: 2019-05-07

Variant appearance in text: FBN1: r2=
PubMed Link: 31020905
Variant Present in the following documents:
  • JAH3-8-0e04028.pdf
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Functional Fibronectin Adsorption on Aptamer-Doped Chitosan Modulates Cell Morphology by Integrin-Mediated Pathway.

Materials (Basel, Switzerland)
Parisi, Ludovica L; Toffoli, Andrea A; Bianchi, Massimiliano G MG; Bergonzi, Carlo C; Bianchera, Annalisa A; Bettini, Ruggero R; Elviri, Lisa L; Macaluso, Guido M GM
Publication Date: 2019-03-08

Variant appearance in text: FBN: R2=
PubMed Link: 30857264
Variant Present in the following documents:
  • materials-12-00812.pdf
View BVdb publication page



Genome-wide association analysis identifies SNPs predictive of in vitro leukemic cell sensitivity to cytarabine in pediatric AML.

Oncotarget
Bargal, Salma A SA; Rafiee, Roya R; Crews, Kristine R KR; Wu, Huiyun H; Cao, Xueyuan X; Rubnitz, Jeffrey E JE; Ribeiro, Raul C RC; Downing, James R JR; Pounds, Stanley B SB; Lamba, Jatinder K JK
Publication Date: 2018-10-09

Variant appearance in text: FBN1: r2=
PubMed Link: 30405880
Variant Present in the following documents:
  • Main text
  • oncotarget-09-34859.pdf
View BVdb publication page



Co-expression network analysis identified CDH11 in association with progression and prognosis in gastric cancer.

Oncotargets And Therapy
Chen, Peng-Fei PF; Wang, Fan F; Nie, Jia-Yan JY; Feng, Jue-Rong JR; Liu, Jing J; Zhou, Rui R; Wang, Hong-Ling HL; Zhao, Qiu Q
Publication Date: 2018

Variant appearance in text: FBN1: R2=
PubMed Link: 30323620
Variant Present in the following documents:
  • ott-11-6425.pdf
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Ventricular-Vascular Coupling in Marfan and Non-Marfan Aortopathies.

Journal Of The American Heart Association
Loeper, Farina F; Oosterhof, Jantine J; van den Dorpel, Mark M; van der Linde, Denise D; Lu, Yaxin Y; Robertson, Elizabeth E; Hambly, Brett B; Jeremy, Richmond R
Publication Date: 2016-11-16

Variant appearance in text: FBN1: R2=
PubMed Link: 27852591
Variant Present in the following documents:
  • JAH3-5-e003705.pdf
View BVdb publication page



Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

Journal Of The American Heart Association
van 't Hof, Femke N G FN; Ruigrok, Ynte M YM; Lee, Cue Hyunkyu CH; Ripke, Stephan S; Anderson, Graig G; de Andrade, Mariza M; Baas, Annette F AF; Blankensteijn, Jan D JD; Böttinger, Erwin P EP; Bown, Matthew J MJ; Broderick, Joseph J; Bijlenga, Philippe P; Carrell, David S DS; Crawford, Dana C DC; Crosslin, David R DR; Ebeling, Christian C; Eriksson, Johan G JG; Fornage, Myriam M; Foroud, Tatiana T; von Und Zu Fraunberg, Mikael M; Friedrich, Christoph M CM; Gaál, Emília I EI; Gottesman, Omri O; Guo, Dong-Chuan DC; Harrison, Seamus C SC; Hernesniemi, Juha J; Hofman, Albert A; Inoue, Ituro I; Jääskeläinen, Juha E JE; Jones, Gregory T GT; Kiemeney, Lambertus A L M LA; Kivisaari, Riku R; Ko, Nerissa N; Koskinen, Seppo S; Kubo, Michiaki M; Kullo, Iftikhar J IJ; Kuivaniemi, Helena H; Kurki, Mitja I MI; Laakso, Aki A; Lai, Dongbing D; Leal, Suzanne M SM; Lehto, Hanna H; LeMaire, Scott A SA; Low, Siew-Kee SK; Malinowski, Jennifer J; McCarty, Catherine A CA; Milewicz, Dianna M DM; Mosley, Thomas H TH; Nakamura, Yusuke Y; Nakaoka, Hirofumi H; Niemelä, Mika M; Pacheco, Jennifer J; Peissig, Peggy L PL; Pera, Joanna J; Rasmussen-Torvik, Laura L; Ritchie, Marylyn D MD; Rivadeneira, Fernando F; van Rij, Andre M AM; Santos-Cortez, Regie Lyn P RL; Saratzis, Athanasios A; Slowik, Agnieszka A; Takahashi, Atsushi A; Tromp, Gerard G; Uitterlinden, André G AG; Verma, Shefali S SS; Vermeulen, Sita H SH; Wang, Gao T GT; , ; Han, Buhm B; Rinkel, Gabriël J E GJ; de Bakker, Paul I W PI
Publication Date: 2016-07-14

Variant appearance in text: FBN1: r2=
PubMed Link: 27418160
Variant Present in the following documents:
  • JAH3-5-e002603.pdf
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Muscle mass, structural and functional investigations of senescence-accelerated mouse P8 (SAMP8).

Experimental Animals
Guo, An Yun AY; Leung, Kwok Sui KS; Siu, Parco Ming Fai PM; Qin, Jiang Hui JH; Chow, Simon Kwoon Ho SK; Qin, Ling L; Li, Chi Yu CY; Cheung, Wing Hoi WH
Publication Date: 2015

Variant appearance in text: FBN: R2=
PubMed Link: 26193895
Variant Present in the following documents:
  • expanim-64-425.pdf
View BVdb publication page