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Analysis of cytoplasmic and nuclear messenger RNA in fibroblasts from patients with type I osteogenesis imperfecta.

作者信息

Genovese C, Rowe D

出版信息

Methods Enzymol. 1987;145:223-35. doi: 10.1016/0076-6879(87)45012-x.

DOI:10.1016/0076-6879(87)45012-x
PMID:3474490
Abstract
摘要

相似文献

1
Analysis of cytoplasmic and nuclear messenger RNA in fibroblasts from patients with type I osteogenesis imperfecta.
Methods Enzymol. 1987;145:223-35. doi: 10.1016/0076-6879(87)45012-x.
2
Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain.追踪成骨不全症中的COL1A1 RNA。剪接缺陷转录本从基因开始转运，但保留在SC35结构域内。
J Cell Biol. 2000 Aug 7;150(3):417-32. doi: 10.1083/jcb.150.3.417.
3
Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.在非进行性（I型）成骨不全症中，I型胶原蛋白一个COL1A1等位基因的mRNA剪接缺陷。
J Clin Invest. 1993 Oct;92(4):1994-2002. doi: 10.1172/JCI116794.
4
Presence of translatable mRNA for pro alpha 2(I) chains in fibroblasts from a patient with osteogenesis imperfecta whose type I collagen does not contain alpha 2(I) chains.来自一名成骨不全患者的成纤维细胞中存在可翻译的Ⅰ型前胶原α2链mRNA，该患者的Ⅰ型胶原不包含α2（Ⅰ）链。
Coll Relat Res. 1984 Oct;4(5):389-94. doi: 10.1016/s0174-173x(84)80006-0.
5
Gene symbol: COL1A1. Disease: Osteogenesis imperfecta type I.
Hum Genet. 2004 Mar;114(4):404.
6
Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.非致死性成骨不全中I型胶原蛋白基因（COL1A2）突变的鉴定
Hum Mol Genet. 1993 Aug;2(8):1319-21. doi: 10.1093/hmg/2.8.1319.
7
Detection of mutations in human type I collagen mRNA in osteogenesis imperfecta by indirect RNase protection.通过间接核糖核酸酶保护法检测成骨不全症患者I型胶原蛋白信使核糖核酸中的突变
J Biol Chem. 1989 Jun 5;264(16):9632-7.
8
Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta.在常染色体显性遗传（I型）成骨不全症患者的培养成纤维细胞中，I型胶原蛋白合成减少，α1（I）胶原蛋白信使核糖核酸水平降低。
J Clin Invest. 1985 Aug;76(2):604-11. doi: 10.1172/JCI112012.
9
Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.COL1A1信使核糖核酸的核滞留鉴定出导致轻度成骨不全的无效等位基因。
J Clin Invest. 1996 Feb 15;97(4):1035-40. doi: 10.1172/JCI118495.
10
A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.一种影响胶原蛋白COL1A1基因中两个上游外显子前体mRNA剪接的5'剪接位点突变。外显子8跳跃和外显子7定义改变产生截短的前α1（I）链，带有使三螺旋不稳定的非胶原插入序列。
Biochem J. 1994 Sep 15;302 ( Pt 3)(Pt 3):729-35. doi: 10.1042/bj3020729.

引用本文的文献

1
Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.扩展成骨不全症的遗传和临床谱：I 型胶原编码基因中新型罕见致病性变异的鉴定。
Front Endocrinol (Lausanne). 2023 Oct 20;14:1254695. doi: 10.3389/fendo.2023.1254695. eCollection 2023.
2
Co-occurrence of heterozygous mutations in and in a high-risk pregnancy complicated by osteogenesis imperfecta.在一例合并成骨不全的高危妊娠中，[基因名称1]和[基因名称2]杂合突变的共现。
J Genet. 2019 Jun;98(2).
3
Temporomandibular disorders and psychosocial status in osteogenesis imperfecta - a cross-sectional study.
成骨不全症患者的颞下颌关节紊乱与心理社会状况——一项横断面研究
BMC Oral Health. 2018 Mar 7;18(1):35. doi: 10.1186/s12903-018-0497-3.
4
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.成骨不全症I型胶原蛋白螺旋结构域突变联盟：富含致死性突变的区域与整合素和蛋白聚糖的胶原蛋白结合位点对齐。
Hum Mutat. 2007 Mar;28(3):209-21. doi: 10.1002/humu.20429.
5
Reduction of target gene expression by a modified U1 snRNA.通过修饰的U1小核RNA降低靶基因表达。
Mol Cell Biol. 2001 Apr;21(8):2815-25. doi: 10.1128/MCB.21.8.2815-2825.2001.
6
Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain.追踪成骨不全症中的COL1A1 RNA。剪接缺陷转录本从基因开始转运，但保留在SC35结构域内。
J Cell Biol. 2000 Aug 7;150(3):417-32. doi: 10.1083/jcb.150.3.417.
7
Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.提前链终止是I型成骨不全细胞株中COL1A1无效等位基因的一种统一机制。
Am J Hum Genet. 1996 Oct;59(4):799-809.
8
Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.COL1A1信使核糖核酸的核滞留鉴定出导致轻度成骨不全的无效等位基因。
J Clin Invest. 1996 Feb 15;97(4):1035-40. doi: 10.1172/JCI118495.
9
Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.Ⅰ型成骨不全患者Ⅰ型胶原蛋白COL1A1基因启动子无突变。
J Med Genet. 1995 Sep;32(9):697-700. doi: 10.1136/jmg.32.9.697.
10
Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.在非进行性（I型）成骨不全症中，I型胶原蛋白一个COL1A1等位基因的mRNA剪接缺陷。
J Clin Invest. 1993 Oct;92(4):1994-2002. doi: 10.1172/JCI116794.