FBN1 c.3116G>A ;(p.C1039Y)

Variant ID: 15-48780657-C-T

NM_000138.4(FBN1):c.3116G>A;(p.C1039Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetically engineered animal models for Marfan syndrome: challenges associated with the generation of pig models for diseases caused by haploinsufficiency.

The Journal Of Reproduction And Development
Jack, Naomi N; Muto, Tomoyuki T; Iemitsu, Keigo K; Watanabe, Tamaki T; Umeyama, Kazuhiro K; Ohgane, Jun J; Nagashima, Hiroshi H
Publication Date: 2022-08-01

Variant appearance in text: FBN1: C1039Y
PubMed Link: 35598970
Variant Present in the following documents:
  • Main text
  • jrd-68-233.pdf
View BVdb publication page



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: Cys1039Tyr
PubMed Link: 34912367
Variant Present in the following documents:
  • Main text
  • fgene-12-734718.pdf
View BVdb publication page



Transforming Growth Factor-β and the Renin-Angiotensin System in Syndromic Thoracic Aortic Aneurysms: Implications for Treatment.

Cardiovascular Drugs And Therapy
van Dorst, Daan C H DCH; de Wagenaar, Nathalie P NP; van der Pluijm, Ingrid I; Roos-Hesselink, Jolien W JW; Essers, Jeroen J; Danser, A H Jan AHJ
Publication Date: 2021-12

Variant appearance in text: FBN1: C1039Y
PubMed Link: 33283255
Variant Present in the following documents:
  • Main text
  • 10557_2020_Article_7116.pdf
View BVdb publication page



Early Impairment of Lung Mechanics in a Murine Model of Marfan Syndrome.

Plos One
Uriarte, Juan J JJ; Meirelles, Thayna T; Gorbenko Del Blanco, Darya D; Nonaka, Paula N PN; Campillo, Noelia N; Sarri, Elisabet E; Navajas, Daniel D; Egea, Gustavo G; Farré, Ramon R
Publication Date: 2016

Variant appearance in text: FBN1: C1039Y
PubMed Link: 27003297
Variant Present in the following documents:
  • Main text
  • pone.0152124.pdf
View BVdb publication page