Articles with "fbn1" as a keyword



Succinylation Inhibits the Enzymatic Hydrolysis of the Extracellular Matrix Protein Fibrillin 1 and Promotes Gastric Cancer Progression

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Published in 2022 at "Advanced Science"

DOI: 10.1002/advs.202200546

Abstract: Extracellular matrix (ECM) remodeling is crucial in the regulation of gastric cancer (GC) progression. This work aims to reveal novel posttranslational modifications and their relevant mechanisms in GC. In 3D matrix culture and animal models,… read more here.

Keywords: extracellular matrix; fbn1; succinylation; progression ... See more keywords
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CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans.

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Published in 2021 at "Molecular genetics & genomic medicine"

DOI: 10.1002/mgg3.1775

Abstract: BACKGROUND Mutations in the fibrillin-1 gene (FBN1) are associated with various heritable connective tissue disorders (HCTD). The most studied HCTD is Marfan syndrome. Ninety percent of Marfan syndrome is caused by mutations in the FBN1… read more here.

Keywords: fbn1; crispr cas9; fbn1 zebrafish; model ... See more keywords
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A potential role of fibrillin-1 (FBN1) mRNA and asprosin in follicular development in water buffalo.

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Published in 2021 at "Theriogenology"

DOI: 10.1016/j.theriogenology.2021.11.004

Abstract: Fibrillin-1 (FBN1) functions as a structural protein in the ovary, while the role of its protein product asprosin remains unknown. Both proteins are encoded by the FBN1 gene and when it is cleaved at the… read more here.

Keywords: fbn1; asprosin; water buffalo; asprosin follicular ... See more keywords
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Affected-embryo-based SNP haplotyping with NGS for the preimplantation genetic testing of Marfan syndrome

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Published in 2021 at "Systems Biology in Reproductive Medicine"

DOI: 10.1080/19396368.2021.1926574

Abstract: ABSTRACT Marfan syndrome (MFS), an autosomal dominant heritable disease of the connective tissue, is characterized by broad clinical manifestations in the musculoskeletal, cardiovascular, pulmonary, and ocular systems. In this study, a male patient with MFS… read more here.

Keywords: fbn1; genetic testing; snp haplotyping; marfan syndrome ... See more keywords
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PSIV-5 Developmental and hormonal regulation of gene expression of fibrillin-1 (FBN1) and the asprosin receptor, olfactory receptor family 4 subfamily M member 1 (OR4M1), in bovine ovarian cells

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Published in 2020 at "Journal of Animal Science"

DOI: 10.1093/jas/skaa278.510

Abstract: Asprosin is a novel fasting-induced protein associated with insulin resistance and polycystic ovaries in humans. It is encoded by FBN1 gene and produced when FBN1 is cleaved by the enzyme furin. In cattle, the role… read more here.

Keywords: receptor; fbn1; mrna abundance; fbn1 mrna ... See more keywords
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New Evidence Supporting the Role of FBN1 in the Development of Adolescent Idiopathic Scoliosis

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Published in 2019 at "SPINE"

DOI: 10.1097/brs.0000000000002809

Abstract: Study Design. A genetic association study. Objective. To determine whether common variants of fibrillin-1 (FBN1) and fibrillin-2 (FBN2) are associated with adolescent idiopathic scoliosis (AIS), and to further investigate to further investigate the functional role… read more here.

Keywords: expression; idiopathic scoliosis; role; fbn1 ... See more keywords
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Identification of a novel pathogenic variant in FBN1 associated with Marfan syndrome

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Published in 2022 at "Cold Spring Harbor Molecular Case Studies"

DOI: 10.1101/mcs.a006215

Abstract: Aortic diseases arising in Marfan syndrome (MFS), such as in aneurysms and dissections of the thoracic aorta, are related to genetic alterations in the FBN1 gene. Databases, such as Universal Mutations-FBN1, ClinVar, and The Human… read more here.

Keywords: fbn1; fbn1 gene; marfan syndrome; variant ... See more keywords
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Assembly assay identifies a critical region of human fibrillin-1 required for 10–12 nm diameter microfibril biogenesis

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Published in 2021 at "PLoS ONE"

DOI: 10.1371/journal.pone.0248532

Abstract: The human FBN1 gene encodes fibrillin-1 (FBN1); the main component of the 10–12 nm diameter extracellular matrix microfibrils. Marfan syndrome (MFS) is a common inherited connective tissue disorder, caused by FBN1 mutations. It features a… read more here.

Keywords: microfibril; fbn1; assembly; microfibril biogenesis ... See more keywords