Genetic testing showed homozygous frameshift insertion in COL4A4 gene that consisted of 1 base pair duplication of cytosine nucleotide resulting in splice-site changes. Genetic testing of both parents ...

COL4A4 emerged as a key gene in this pathway, with a 6.9-fold increase in expression, demonstrating consistent biological reproducibility across 3 replicates (Figure S20). The Western blot analysis ...

√ COL4A3/COL4A4 纯合突变或复合杂合突变引起的常染色体隐性 AS（autosomal recessive Alport syndrome, ARAS），约占 15%； √ COL4A3/COL4A4 杂合突变引起的常染色体显性 AS（autosomal dominant Alport syndrome, ADAS），少见； √ 以及近几年提出的双基因 AS，少见。

COL4A3、COL4A4和COL4A5基因突变检测可以帮助医生明确诊断，确定遗传方式，为患者制定个性化的治疗方案。 基因检测不仅有助于诊断遗传性肾脏病，还能对一级亲属进行变异位点的验证，帮助了解疾病风险，制定科学的生育计划。

华人的患病率是马来人的 2.7 倍，且多数致病性变异仅在特定种族中出现。 高致病性评分的意义未明变异：研究还发现了 5 个 COL4A3 基因和 1 个 COL4A4 基因的变异，其致病性评分较高但意义未明，后续可能需要更多证据来重新分类。

Our transcriptomics data showed that Col1a1 and the basement membrane collagen Col4a4, are significantly reduced in E18.5 Svep1-/- lungs, disruption of which may contribute to the proliferation and ...

Hereditary nephritis in dogs is a genetically inherited disorder that affects the kidneys. This condition is analogous to Alport syndrome in humans. It is primarily characterized by structural ...

Association of Genetically Predicted Skipping of COL4A4 Exon 27 with Hematuria and Albuminuria Journal: Journal of the American Society of Nephrology Published: 2024-08-28 DOI: 10.1681/asn ...

最终，小刘基因检测结果显示：常染色体隐性Alport综合征2型相关的COL4A4基因上检出与受检者表型相关的2个致病变异，结合临床该患儿明确是Alport ...

Zheng, T., Zheng, Z., Zhou, H., et al. (2023) The Multifaceted Roles of COL4A4 in Lung Adenocarcinoma An Integrated Bioinformatics and Experimental Study. Computers ...