①
Evidence that all Sorsby's fundus dystrophy mutations cause TIMP3 dimerization resulting in impaired inhibition of VEGFR2
Sorsby眼底营养不良突变导致TIMP3二聚化，从而损害VEGFR2的抑制作用
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原文链接：
https://www.sciencedirect.com/science/article/pii/S2352304222000812
引用这篇文章：
Alsaffar FA, Mujamammi AH, Aldughaim MSK, Nicklin MJH, Barker MD. Evidence that all Sorsby's fundus dystrophy mutations cause TIMP3 dimerization resulting in impaired inhibition of VEGFR2. Genes Dis. 2023;10(1):45-47.
②
Clinical data and functional research of this study.
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原文链接：
https://www.sciencedirect.com/science/article/pii/S2352304223001083
引用这篇文章：
Cui Y, Xu W, Liu J, et al. A BBS4 mutation causes autosomal dominant polycystic liver disease. Genes Dis. 2024;11(1):72-75.
③
Genomic assays, in silico prediction analysis, and three-dimensional structure of the mutant NR5A1 from the 46,XY DSD patient and WT-NR5A1.
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原文链接：
https://www.sciencedirect.com/science/article/pii/S2352304221000842
引用这篇文章：
Ramos L. A novel heterozygous SF1/NR5A1 gene variant causes 46,XY DSD-gonadal dysgenesis with hypergonadotropic hypogonadism without adrenal insufficiency. Genes Dis. 2024;11(4):101160.
④
Familial pedigree and Western blotting analysis of plasmatic and intracellular FP.
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原文链接：
https://www.sciencedirect.com/science/article/pii/S2352304223004178
引用这篇文章：
González-Sánchez L, Agudo AM, Van Den Rym A, et al. Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant. Genes Dis. 2024;11(6):101134.
⑤
Molecular characterization of the interleukin-11 receptor variants V15M, G231D, R261H and R395W.
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原文链接：
https://www.sciencedirect.com/science/article/pii/S2352304222001350
引用这篇文章：
Kespohl B, Hartig R, Garbers Y, Lokau J, Garbers C. Coding variants of the interleukin-11 receptor with reduced protein maturation show protease-dependent trans-signaling and transduce normal STAT3 signaling. Genes Dis. 2023;10(2):373-376.
⑥
Genetic and clinical characteristics of gene mutation and functional verification.
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原文链接：
https://www.sciencedirect.com/science/article/pii/S2352304222002525
引用这篇文章：
Lv J, Chen X, Xiao Y. An interleukin 10 Receptor alpha (IL-10RA) variant with a compound heterozygote mutation shows normal IL-10 signaling activity. Genes Dis. 2023;10(3):716-718.
编辑：张虹
排版：陈木兰
审核：Genes & Diseases 编辑部
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