Publications:

Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Plos One

Jensen, Sacha A SA; Atwa, Ondine O; Handford, Penny A PA

Publication Date: 2021

Variant appearance in text: FBN1: C1111R

PubMed Link: 33735269

Variant Present in the following documents:

• Main text
• pone.0248532.pdf

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Steered molecular dynamic simulations reveal Marfan syndrome mutations disrupt fibrillin-1 cbEGF domain mechanosensitive calcium binding.

Scientific Reports

Haller, Stephen J SJ; Roitberg, Adrian E AE; Dudley, Andrew T AT

Publication Date: 2020-10-08

Variant appearance in text: FBN1: C1111R

PubMed Link: 33033378

Variant Present in the following documents:

• Main text
• 41598_2020_Article_73969.pdf

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A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.

Bmc Pediatrics

Peng, Qian Q; Deng, Yan Y; Yang, Yuan Y; Liu, Hanmin H

Publication Date: 2016-04-30

Variant appearance in text: FBN1: Cys1111Arg

PubMed Link: 27138491

Variant Present in the following documents:

• Main text
• 12887_2016_Article_598.pdf

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