Publications:

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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: 7180C>T; Arg2394Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.

Genes

Jimenez, Yanireth Y; Paulsen, Cesar C; Turner, Eduardo E; Iturra, Sebastian S; Cuevas, Oscar O; Lay-Son, Guillermo G; Repetto, Gabriela M GM; Rojas, Marcelo M; Calderon, Juan F JF

Publication Date: 2022-06-08

Variant appearance in text: FBN1: 7180C>T

PubMed Link: 35741789

Variant Present in the following documents:

• Main text
• genes-13-01027.pdf

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Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Journal Of Medical Genetics

Taniguchi, Yuki Y; Takeda, Norifumi N; Inuzuka, Ryo R; Matsubayashi, Yoshitaka Y; Kato, So S; Doi, Toru T; Yagi, Hiroki H; Yamauchi, Haruo H; Ando, Masahiko M; Oshima, Yasushi Y; Tanaka, Sakae S

Publication Date: 2021-12-16

Variant appearance in text: FBN1: 7180C>T; Arg2394*; rs397515848

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.pdf

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Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.

Frontiers In Genetics

Hu, Xuyun X; Guo, Ruolan R; Guo, Jun J; Qi, Zhan Z; Li, Wei W; Hao, Chanjuan C

Publication Date: 2020

Variant appearance in text: FBN1: 7180C>T; Arg2394*

PubMed Link: 32595695

Variant Present in the following documents:

• Main text
• fgene-11-00473.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: FBN1: R2394*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: FBN1: 7180C>T; R2394*; rs397515848

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

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Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.

Molecular Genetics & Genomic Medicine

Xu, Shijun S; Li, Lei L; Fu, Yuwei Y; Wang, Xin X; Sun, Hairui H; Wang, Jianbin J; Han, Lu L; Wu, Zining Z; Liu, Yongmin Y; Zhu, Junming J; Sun, Lizhong L; Lan, Feng F; He, Yihua Y; Zhang, Hongjia H

Publication Date: 2020-01

Variant appearance in text: FBN1: R2394X

PubMed Link: 31830381

Variant Present in the following documents:

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A VEGF-dependent gene signature enriched in mesenchymal ovarian cancer predicts patient prognosis.

Scientific Reports

Yin, Xia X; Wang, Xiaojie X; Shen, Boqiang B; Jing, Ying Y; Li, Qing Q; Cai, Mei-Chun MC; Gu, Zhuowei Z; Yang, Qi Q; Zhang, Zhenfeng Z; Liu, Jin J; Li, Hongxia H; Di, Wen W; Zhuang, Guanglei G

Publication Date: 2016-08-08

Variant appearance in text: FBN1: R2394*

PubMed Link: 27498762

Variant Present in the following documents:

• srep31079-s1.pdf

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