Consequences of Cysteine Mutations in Calcium-binding Epidermal Growth Factor Modules of Fibrillin-1-Reference-Cited by-同舟云学术

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Consequences of Cysteine Mutations in Calcium-binding Epidermal Growth Factor Modules of Fibrillin-1

Published:2004-07 Issue:31 Volume:279 Page:32924-32931
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Vollbrandt Tillman,Tiedemann Kerstin,El-Hallous Ehab,Lin Guoqing,Brinckmann Jürgen,John Harald,Bätge Boris,Notbohm Holger,Reinhardt Dieter P.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference41 articles.

1. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

2. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices

3. Partial sequence of a candidate gene for the Marfan syndrome

4. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

5. Fibrillin Binds Calcium and Is Coded by cDNAs That Reveal a Multidomain Structure and Alternatively Spliced Exons at the 5′ End

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1. Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease;American Journal of Medical Genetics Part A;2024-06-21

2. Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome;Orphanet Journal of Rare Diseases;2024-05-21

3. Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines;Annals of Laboratory Medicine;2023-10-16

4. Clinical and genetic findings in Chinese families with congenital ectopia lentis;Molecular Genetics & Genomic Medicine;2023-01-20

5. Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1;Frontiers in Genetics;2022-08-11

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