FBN1 c.4082G>A ;(p.C1361Y)

Variant ID: 15-48766730-C-T

NM_000138.4(FBN1):c.4082G>A;(p.C1361Y)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: FBN1: 4082G>A; Cys1361Tyr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: FBN1: 4082G>A; Cys1361Tyr
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
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Human Induced Pluripotent Stem Cell as a Disease Modeling and Drug Development Platform-A Cardiac Perspective.

Cells
Bekhite, Mohamed M MM; Schulze, P Christian PC
Publication Date: 2021-12-09

Variant appearance in text: FBN1: 4082G>A
PubMed Link: 34943991
Variant Present in the following documents:
  • cells-10-03483.pdf
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Modeling aortic diseases using induced pluripotent stem cells.

Stem Cells Translational Medicine
Zhu, Kai K; Ma, Wenrui W; Li, Jun J; Zhang, Yu Shrike YS; Zhang, Weijia W; Lai, Hao H; Wang, Chunsheng C
Publication Date: 2021-02

Variant appearance in text: FBN1: 4082G>A
PubMed Link: 33179450
Variant Present in the following documents:
  • SCT3-10-190.pdf
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Versatility of Induced Pluripotent Stem Cells (iPSCs) for Improving the Knowledge on Musculoskeletal Diseases.

International Journal Of Molecular Sciences
Sanjurjo-Rodríguez, Clara C; Castro-Viñuelas, Rocío R; Piñeiro-Ramil, María M; Rodríguez-Fernández, Silvia S; Fuentes-Boquete, Isaac I; Blanco, Francisco J FJ; Díaz-Prado, Silvia S
Publication Date: 2020-08-25

Variant appearance in text: FBN1: 4082G>A
PubMed Link: 32854405
Variant Present in the following documents:
  • Main text
  • ijms-21-06124.pdf
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Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

International Journal Of Molecular Sciences
Brodehl, Andreas A; Ebbinghaus, Hans H; Deutsch, Marcus-André MA; Gummert, Jan J; Gärtner, Anna A; Ratnavadivel, Sandra S; Milting, Hendrik H
Publication Date: 2019-09-06

Variant appearance in text: FBN1: 4082G>A
PubMed Link: 31489928
Variant Present in the following documents:
  • Main text
  • ijms-20-04381.pdf
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The Application of Induced Pluripotent Stem Cells in Pathogenesis Study and Gene Therapy for Vascular Disorders: Current Progress and Future Challenges.

Stem Cells International
Peng, Guang-Yin GY; Lin, Yang Y; Li, Jing-Jing JJ; Wang, Ying Y; Huang, Hao-Yue HY; Shen, Zhen-Ya ZY
Publication Date: 2019

Variant appearance in text: FBN1: 4082G>A
PubMed Link: 31281393
Variant Present in the following documents:
  • SCI2019-9613258.pdf
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α2δ1 may be a potential marker for cancer stem cell in laryngeal squamous cell carcinoma.

Cancer Biomarkers : Section A Of Disease Markers
Huang, Chaoping C; Li, Yan Y; Zhao, Wei W; Zhang, Aobo A; Lu, Cheng C; Wang, Zhenxiao Z; Liu, Liangfa L
Publication Date: 2019

Variant appearance in text: FBN1: 4082G>A
PubMed Link: 30475757
Variant Present in the following documents:
  • cbm-24-cbm181947.pdf
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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: FBN1: C1361Y
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
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A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

Bmc Genomics
Yao, Zizhen Z; Jaeger, Jochen C JC; Ruzzo, Walter L WL; Morale, Cecile Z CZ; Emond, Mary M; Francke, Uta U; Milewicz, Dianna M DM; Schwartz, Stephen M SM; Mulvihill, Eileen R ER
Publication Date: 2007-09-12

Variant appearance in text: FBN1: C1361Y
PubMed Link: 17850668
Variant Present in the following documents:
  • Main text
View BVdb publication page