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Osteogenesis imperfecta: translation of mutation to phenotype.

作者信息

Byers P H, Wallis G A, Willing M C

机构信息

Department of Pathology, University of Washington, Seattle 98195.

出版信息

J Med Genet. 1991 Jul;28(7):433-42. doi: 10.1136/jmg.28.7.433.

DOI:10.1136/jmg.28.7.433
PMID:1895312
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016951/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca62/1016951/f460714e7a60/jmedgene00033-0005-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca62/1016951/f460714e7a60/jmedgene00033-0005-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca62/1016951/f460714e7a60/jmedgene00033-0005-a.jpg

相似文献

1
Osteogenesis imperfecta: translation of mutation to phenotype.成骨不全症：从突变到表型的转化
J Med Genet. 1991 Jul;28(7):433-42. doi: 10.1136/jmg.28.7.433.
2
Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta.先证者兄妹二人存在一种中等程度的成骨不全症，携带 SERPINH1 基因框移突变和上游缺失的复合杂合突变，导致该基因表达降低。
Am J Med Genet A. 2019 Aug;179(8):1466-1475. doi: 10.1002/ajmg.a.61170. Epub 2019 Jun 9.
3
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.由一个人类原α1（I）胶原等位基因中的单核苷酸变化导致的致死性成骨不全症。
Proc Natl Acad Sci U S A. 1986 Aug;83(16):6045-7. doi: 10.1073/pnas.83.16.6045.
4
Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II.I型前胶原链的细微结构改变会导致II型成骨不全症。
Nature. 1985;316(6026):363-6. doi: 10.1038/316363a0.
5
Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.COL1A2基因剪接位点突变的纯合性会产生无功能的前α2（I）链和埃勒斯-当洛综合征/成骨不全临床表型。
J Med Genet. 2001 Feb;38(2):132-6. doi: 10.1136/jmg.38.2.132.
6
ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta.内质网应激介导的成骨不全新小鼠模型中的细胞凋亡
PLoS Genet. 2008 Feb;4(2):e7. doi: 10.1371/journal.pgen.0040007.
7
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.成骨不全症：克隆出带有移码突变的前α2（I）型胶原蛋白基因。
J Biol Chem. 1984 Nov 10;259(21):12941-4.
8
Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV.来自一名IV型成骨不全先证者的成骨细胞和成纤维细胞培养物中突变α（I）-前胶原的表达
J Bone Miner Res. 1992 Jul;7(7):793-805. doi: 10.1002/jbmr.5650070709.
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Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.成骨不全症：表型异质性、蛋白质自杀、短链和长链胶原蛋白。
Am J Hum Genet. 1984 May;36(3):499-505.
10
Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.在一名患有致死性成骨不全症的先证者中，I型前胶原α1(I)链中甘氨酸-α1-691被半胱氨酸替代，使得三股螺旋在替代位点的C端不稳定。
Biochem J. 1991 Nov 1;279 ( Pt 3)(Pt 3):747-52. doi: 10.1042/bj2790747.

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Oral Dis. 2025 Mar;31(3):983-992. doi: 10.1111/odi.15163. Epub 2024 Oct 22.
2
Ocular manifestations suggest osteogenesis imperfecta in a previously undiagnosed adult following polytrauma.眼表现提示一名既往未诊断的成年多发伤患者患有成骨不全症。
BMJ Case Rep. 2024 Apr 9;17(4):e258217. doi: 10.1136/bcr-2023-258217.
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In Vitro Modelling of Osteogenesis Imperfecta with Patient-Derived Induced Mesenchymal Stem Cells.

本文引用的文献

1
Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.I型成骨不全症：I型前胶原α1（I）链的无功能等位基因。
Proc Natl Acad Sci U S A. 1982 Jun;79(12):3838-42. doi: 10.1073/pnas.79.12.3838.
2
Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta.一名成骨不全症先证者中缩短的前α2（I）链的合成及前α2（I）链合成减少。
J Biol Chem. 1983 Jun 25;258(12):7721-8.
3
Collagen genes and brittle bones.
利用患者来源的诱导间充质干细胞体外构建成骨不全症模型。
Int J Mol Sci. 2024 Mar 18;25(6):3417. doi: 10.3390/ijms25063417.
4
Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.外显子组测序在成骨不全症病例中发现了 WNT1 和 COL1A2 基因的突变。
Mol Biol Rep. 2024 Mar 27;51(1):449. doi: 10.1007/s11033-024-09326-7.
5
Elucidating the role of water in collagen self-assembly by isotopically modulating collagen hydration.通过同位素调节胶原蛋白水合作用来阐明水在胶原蛋白自组装中的作用。
Proc Natl Acad Sci U S A. 2024 Mar 12;121(11):e2313162121. doi: 10.1073/pnas.2313162121. Epub 2024 Mar 7.
6
NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.波兰成骨不全症患者 I 型胶原基因的 NGS 分析：一项全国多中心研究。
Front Endocrinol (Lausanne). 2023 Sep 22;14:1149982. doi: 10.3389/fendo.2023.1149982. eCollection 2023.
7
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in -further expansion of the phenotypic spectrum.由于预测的功能丧失变异和新的错义变异的复合杂合性，导致 VIII 型成骨不全症的表现较为温和-表型谱的进一步扩展。
Cold Spring Harb Mol Case Stud. 2023 Mar 24;9(1). doi: 10.1101/mcs.a006260. Print 2023 Feb.
8
From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.从遗传学角度到临床意义：对 675 例荷兰成骨不全症患者的研究。
Biomolecules. 2023 Feb 2;13(2):281. doi: 10.3390/biom13020281.
9
Disrupting Effects of Osteogenesis Imperfecta Mutations Could Be Predicted by Local Hydrogen Bonding Energy.成骨不全症突变的干扰效应可以通过局部氢键能来预测。
Biomolecules. 2022 Aug 11;12(8):1104. doi: 10.3390/biom12081104.
10
Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive Pathogenic Variant.越南成骨不全症患者携带隐性致病变异的表型变异。
Genes (Basel). 2022 Feb 24;13(3):407. doi: 10.3390/genes13030407.
Ann Intern Med. 1983 Nov;99(5):700-4. doi: 10.7326/0003-4819-99-5-700.
4
The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.纯合子α2（I）胶原缺乏型成骨不全症的临床特征。
J Med Genet. 1984 Aug;21(4):257-62. doi: 10.1136/jmg.21.4.257.
5
Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.与人类I型前胶原的原α2（I）基因相关的限制性片段长度多态性。应用于一个常染色体显性形式的成骨不全症家族。
J Clin Invest. 1983 Oct;72(4):1262-7. doi: 10.1172/JCI111082.
6
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.成骨不全症：克隆出带有移码突变的前α2（I）型胶原蛋白基因。
J Biol Chem. 1984 Nov 10;259(21):12941-4.
7
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity.III型成骨不全症。参照基因异质性对表型进行描述。
Am J Med Genet. 1986 Mar;23(3):821-32. doi: 10.1002/ajmg.1320230309.
8
A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta.I型前胶原基因中的一个点突变将α1链的甘氨酸748转换为半胱氨酸，并使成骨不全致死变体中的三螺旋结构不稳定。
J Biol Chem. 1987 Oct 25;262(30):14737-44.
9
Osteogenesis imperfecta type IIA: evidence for dominant inheritance.IIA型成骨不全症：显性遗传的证据。
J Med Genet. 1987 Jul;24(7):386-9. doi: 10.1136/jmg.24.7.386.
10
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.