Publications:

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Elastic Fibre Proteins in Elastogenesis and Wound Healing.

International Journal Of Molecular Sciences

Zhang, Xinyang X; Alanazi, Yasmene F YF; Jowitt, Thomas A TA; Roseman, Alan M AM; Baldock, Clair C

Publication Date: 2022-04-07

Variant appearance in text: FBN1: N164S

PubMed Link: 35456902

Variant Present in the following documents:

• Main text
• ijms-23-04087.pdf

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: FBN1: 491A>G; Asn164Ser

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s003.xlsx, sheet 3

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The N-Terminal Region of Fibrillin-1 Mediates a Bipartite Interaction with LTBP1.

Structure (London, England : 1993)

Robertson, Ian B IB; Dias, Hans F HF; Osuch, Isabelle H IH; Lowe, Edward D ED; Jensen, Sacha A SA; Redfield, Christina C; Handford, Penny A PA

Publication Date: 2017-08-01

Variant appearance in text: FBN1: N164S

PubMed Link: 28669633

Variant Present in the following documents:

• Main text
• mmc1.pdf
• mmc3.pdf

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Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly.

Structure (London, England : 1993)

Yadin, David A DA; Robertson, Ian B IB; McNaught-Davis, Joanne J; Evans, Paul P; Stoddart, David D; Handford, Penny A PA; Jensen, Sacha A SA; Redfield, Christina C

Publication Date: 2013-10-08

Variant appearance in text: FBN1: N164S

PubMed Link: 24035709

Variant Present in the following documents:

• Main text
• main.pdf

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Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.

The Journal Of Biological Chemistry

Ono, Robert N RN; Sengle, Gerhard G; Charbonneau, Noe L NL; Carlberg, Valerie V; Bächinger, Hans Peter HP; Sasaki, Takako T; Lee-Arteaga, Sui S; Zilberberg, Lior L; Rifkin, Daniel B DB; Ramirez, Francesco F; Chu, Mon-Li ML; Sakai, Lynn Y LY

Publication Date: 2009-06-19

Variant appearance in text: FBN1: N164S

PubMed Link: 19349279

Variant Present in the following documents:

• Main text

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Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.

The British Journal Of Ophthalmology

Comeglio, P P; Evans, A L AL; Brice, G G; Cooling, R J RJ; Child, A H AH

Publication Date: 2002-12

Variant appearance in text: FBN1: N164S

PubMed Link: 12446365

Variant Present in the following documents:

• Main text

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