Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg

Çetinkaya, Arda; Karaman, Ali̇; Mutlu, Mehmet Burak; Yavuz, Taner

doi:10.1111/cga.12220

Cited by 2 publications

(3 citation statements)

References 6 publications

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“…By comparing FBN1 protein sequences between human and zebrafish , we found that human FBN1 protein is highly conserved in zebrafish, consistent with previous reports (Cetinkaya et al, 2018 ; Gao et al, 2019 ). FBN1 performs similar functions among different species.…”

Section: Discussionsupporting

confidence: 91%

CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans

Yin

Hao

Yao

2021

Molec Gen & Gen Med

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Human FBN1 (https://www.ncbi.nlm.nih.gov/gene/2200, updated on June 11, 2021) encodes a ~320 kDa extracellular matrix (ECM) protein fibrillin-1 that is widely expressed throughout the body and constitutes the backbone of microfibrils in the ECM (Jensen & Handford, 2016;Schrenk et al., 2018;Zigrino & Sengle, 2019). It contains three cysteine-rich repeating motifs (Jensen & Handford, 2016;Schrenk et al., 2018), which are epidermal growth factor (EGF) motifs and latent transformation growth factor-β1 binding protein (LTBP or TB) motifs and Fib motifs. The Fib motif is a unique hybrid motif of FBN1, which is formed by the fusion of EGF and LTBP

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Section: Discussionsupporting

confidence: 91%

CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans

Yin

Hao

Yao

2021

Molec Gen & Gen Med

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“…This gene is responsible for the production of fibrillin-1 glycoprotein in the human body. [1][2][3][4][5] Incidence of MFS is approximately 1 in 5000 births, without differences among gender, ethnic, and geographic groups of affected individuals. In 75% of cases, this syndrome has a hereditary cause (25% results of new mutation).…”

Section: Introductionmentioning

confidence: 99%

“…The inheritance pattern in this syndrome is autosomal dominant (AD), and mutations in the gene for fibrillin‐1 (FBN1) cause most cases of MFS. This gene is responsible for the production of fibrillin‐1 glycoprotein in the human body 1‐5 …”

Section: Introductionmentioning

confidence: 99%