通过外显子测序技术，在五名表现为骨畸形、牙科异常但无骨折或EDS特征的患者中，鉴定出1例新型COL1A1纯合错义变异（c.4340T>G; p.Val1447Gly）及3例杂合变异（包括COL1A2的c.1171G>A和c.1253G>C，以及COL1A1的c.1678G>A）。

GSEA分析进一步证实其angiogenesis和ECM调控通路激活（图3B,C）。Western blot和3D球体培养显示，该亚群分泌FN、LAMA4和COL1A2的能力是普通DPSCs的2-3倍（图4），这种ECM富集特性使其成为构建血管化微环境的理想种子细胞。 动物模型验证 ...

Chromosome 7 COL1A2 Most cases occur with no family history (spontaneous mutations) Genetic instructions to make collagen: Electrophoresis and mutation analysis • Congenital bilateral hip ...

华盈生物提供的定量蛋白组学技术鉴定了1409种hucmsc-evs蛋白，这些蛋白富集到很多组织重建的通路上。特别是含量高的很多蛋白参与超高分子纤维组成（col1a2, vim, anxa2, tf, col1a1, fn1），及细胞骨架组成（krt1, col6a3, col1a1, krt86, krt10)，这些都与纤维化直接相关。

Meanwhile, cells in cluster 1 and 6 were considered as intermediate cells (ICs) during 2C-induced reprogramming of CMs to RCCs, because of expression of ACTA2, a marker gene reported to express in CM ...

Aligning AMELX and AMELY sequences from Bison bison, Bos taurus and Homo sapiens (Figure S1); sequence alignment of B. taurus and Bison bison for COL1A2, COL1A2, ameloblastin, enamelin, ...

RESUMO. Os autores apresentam um caso clínico de Osteogenesis Imperfecta, dando ênfase às características clínicas, epidemiológicas, formas de classificação e tratamento da doença.Trata-se de um caso ...