FBN1 c.4710G>T ;(p.W1570C)

Variant ID: 15-48760172-C-A

NM_000138.4(FBN1):c.4710G>T;(p.W1570C)

This variant was identified in 9 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: 4710G>T; Trp1570Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.

Human Mutation
Peeters, Silke S; De Kinderen, Pauline P; Meester, Josephina A N JAN; Verstraeten, Aline A; Loeys, Bart L BL
Publication Date: 2022-07

Variant appearance in text: FBN1: Trp1570Cys
PubMed Link: 35419902
Variant Present in the following documents:
  • Main text
  • HUMU-43-815.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: FBN1: 4710G>T; W1570C
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



A disease-associated mutation in fibrillin-1 differentially regulates integrin-mediated cell adhesion.

The Journal Of Biological Chemistry
Del Cid, Joselyn S JS; Reed, Nilgun Isik NI; Molnar, Kathleen K; Liu, Sean S; Dang, Bobo B; Jensen, Sacha A SA; DeGrado, William W; Handford, Penny A PA; Sheppard, Dean D; Sundaram, Aparna B AB
Publication Date: 2019-11-29

Variant appearance in text: FBN1: W1570C
PubMed Link: 31640988
Variant Present in the following documents:
  • Main text
View BVdb publication page



FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.

Gene
Sakai, Lynn Y LY; Keene, Douglas R DR; Renard, Marjolijn M; De Backer, Julie J
Publication Date: 2016-10-10

Variant appearance in text: FBN1: W1570C
PubMed Link: 27437668
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fibrillin-containing microfibrils are key signal relay stations for cell function.

Journal Of Cell Communication And Signaling
Zeyer, Karina A KA; Reinhardt, Dieter P DP
Publication Date: 2015-12

Variant appearance in text: FBN1: W1570C
PubMed Link: 26449569
Variant Present in the following documents:
  • Main text
View BVdb publication page



A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

Human Molecular Genetics
Jensen, Sacha A SA; Iqbal, Sarah S; Bulsiewicz, Alicja A; Handford, Penny A PA
Publication Date: 2015-08-01

Variant appearance in text: FBN1: W1570C
PubMed Link: 25979247
Variant Present in the following documents:
  • Main text
  • ddv181.pdf
View BVdb publication page



Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma.

Nature
Gerber, Elizabeth E EE; Gallo, Elena M EM; Fontana, Stefani C SC; Davis, Elaine C EC; Wigley, Fredrick M FM; Huso, David L DL; Dietz, Harry C HC
Publication Date: 2013-11-07

Variant appearance in text: FBN1: W1570C
PubMed Link: 24107997
Variant Present in the following documents:
  • Main text
  • nihms519907.pdf
View BVdb publication page



Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

Science Translational Medicine
Loeys, B L BL; Gerber, E E EE; Riegert-Johnson, D D; Iqbal, S S; Whiteman, P P; McConnell, V V; Chillakuri, C R CR; Macaya, D D; Coucke, P J PJ; De Paepe, A A; Judge, D P DP; Wigley, F F; Davis, E C EC; Mardon, H J HJ; Handford, P P; Keene, D R DR; Sakai, L Y LY; Dietz, H C HC
Publication Date: 2010-03-17

Variant appearance in text: FBN1: 4710G>T; Trp1570Cys
PubMed Link: 20375004
Variant Present in the following documents:
  • Main text
View BVdb publication page