常染色体显性遗传的OI由Ⅰ型胶原编码基因COL1A1基因(NM_000088.3)和COL1A2基因(NM_000089.3)杂合变异导致,主要临床特征包括骨密度降低、骨质脆、轻微碰撞易骨折、听力损失、牙本质发育不全、蓝巩膜等,临床严重程度差异很大,轻者无明显症状,重者围生期死亡[2]...
UVA-1%2fUVA照射对局限性硬皮病患者成纤维细胞中COL1A1和MMP-1表达的影响 热度: 补骨脂炮制前后对皮肤成纤维细胞MMP-1及TIMP-1mRNA表达的影响 热度: 人COL1A1和/或COL1A2基因的扩增、检测突变用引物及其试剂盒 热度: !""@h!@P%Q南方医科大学学报P‘),*.=]/0Z76aQ%* ...
笼统地讲,Ⅰ型Ehlers-Danlos综合征(EDS)是一种结缔组织疾病.主要表现为皮肤柔软,伸展过度及关节移动过度.根据临床,遗传及生化标准已确定了十几种类型的EDS,己识别出数种罕见型EDS的分子基础.然而,引起Ⅰ型EDS的基因缺陷仍未确定.但以前的观察资料提示该综合征可能由Ⅰ型胶原(COL1A1和COL1A2)或Ⅲ型胶原(COL3A1)...
Three polymorphisms in the COL3A1 gene, two in the COL1A1 gene, and one in the COL1A2 gene were tested using the polymerase chain reaction. The data obtained excluded linkage of any of the three genes to EDS type I in the family. This is a preview of subscription content, log in ...
In Kaplan Meier plotter, we found that high expression of COL1A1, COL1A2 and COL3A1 was associated with poorer survival while low expression of DCN was contributed to poorer survival in LAs who smoke. Thus, three up-regulated genes (COL1A1, COL1A2, COL3A1) and one down-regulated gene...
2006. Extracellular matrix contain- ing mutated fibrillin-1 (Fbn1) down regulates Col1a1, Col1a2, Col3a1, Col5a1, and Col5a2 mRNA levels in Tsk/þ and Tsk/Tsk embryonic fibroblasts. Amino Acids 30:445 - 451.Christner PJ, Ayitey S. Extracellular matrix containing mutated fibrillin-1 (...
COL1A2 UP 18 CCL2: C-C motif chemokine ligand 2; MMP2: matrix metallopeptidase 2; COL1A1: collagen type I alpha 1 Chain; SERPINE1: serpin family E member 1; EGR1: early growth response 1; COL3A1: collagen type III alpha 1 chain; THBS1: thrombospondin 1; VWF: von Willebrand fa...
In one family it was shown that the COL1A1, COL1A2, COL3A1, and COL5A2 genes segregated independently of the phenotype; in the other family the results for COL1A1, COL1A2, and COL5A2 were similar but analysis at the COL3A1 locus was not possible. These data indicate that in ...
RNAi对人类皮肤成纤维细胞COL1A1及COL3A1表达的影响 目的:研究RNA干扰(RNAi)技术对人类皮肤成纤维细胞(HSF)COL1A1及COL3A1表达的影响.Ⅰ型胶原和Ⅲ型胶原是构成皮肤结缔组织的主要成份,其异常是造成真皮结缔组织以及纤维... 王琼,彭振辉,王万卷,... - 全国中西医结合皮肤性病学术会议 被引量: 7发表: 0年 赖...
COKS COKT COL COL TRIBAL COL(P) COL11A1 COL18A1 COL1A1 COL1A2 COL2A1 COL3A1 COL4 COL5A1 COLA COLA1D COLAB COLAC COLACIBU COLAF COLAGE COLAN COLAND COLANTA CoLAP COLAPL COLAR COLAS COLATO COLB COLBA COLBC COLBERT CoLC ▼