A novel FN1 variant associated with familial hematuria: TBMN?
Clin Biochem. 2016.
PMID: 26968105
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A novel FN1 variant associated with familial hematuria: TBMN?
Yuan L, Xu H, Yuan J, Deng X, Xiong W, Yang Z, Huang Y, Deng H.
Yuan L, et al.
Clin Biochem. 2016 Jul;49(10-11):816-20. doi: 10.1016/j.clinbiochem.2016.01.026. Epub 2016 Mar 9.
Clin Biochem. 2016.
PMID: 26968105
RESULTS: A novel missense variant, c.4616C>G (p.S1539C), in the fibronectin 1 gene (FN1), was identified, and it co-segregated with the disease condition in the family. It was not observed in 100 normal controls. CONCLUSIONS: A missense variant in t …
RESULTS: A novel missense variant, c.4616C>G (p.S1539C), in the fibronectin 1 gene (FN1), was identified, and it co- …
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A high-impact FN1 variant correlates with fibronectin-mediated glomerulopathy via decreased binding to collagen type IV.
Qiu J, Chi H, Gan C, Zhou X, Chen D, Yang Q, Chen Y, Wang M, Yang H, Jiang W, Li Q.
Qiu J, et al.
Pathology. 2023 Jun;55(4):498-507. doi: 10.1016/j.pathol.2022.10.016. Epub 2023 Jan 20.
Pathology. 2023.
PMID: 36774238
Free article.
Also, we hypothesised that TBMN arose as the fibronectin variant exhibited a decreased capacity to bind COL4A3/4. Our study is the first to identify and link this novel pathogenic mutation (c.3415G>A) in FN1 to GFND as well as TBMN, which may …
Also, we hypothesised that TBMN arose as the fibronectin variant exhibited a decreased capacity to bind COL4A3/4. Our study is …
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