骨骼变异的分子基础：来自小鼠发育遗传学研究的见解
Molecular basis for skeletal variation: insights from developmental genetic studies in mice.
作者信息
Kappen C, Neubüser A, Balling R, Finnell R
机构信息
Center for Human Molecular Genetics, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.
出版信息
Birth Defects Res B Dev Reprod Toxicol. 2007 Dec;80(6):425-50. doi: 10.1002/bdrb.20136.
Abstract
Skeletal variations are common in humans, and potentially are caused by genetic as well as environmental factors. We here review molecular principles in skeletal development to develop a knowledge base of possible alterations that could explain variations in skeletal element number, shape or size. Environmental agents that induce variations, such as teratogens, likely interact with the molecular pathways that regulate skeletal development.
摘要
骨骼变异在人类中很常见，可能由遗传和环境因素引起。我们在此回顾骨骼发育的分子原理，以建立一个知识库，其中包含可能的改变，这些改变可以解释骨骼元素数量、形状或大小的变异。诱导变异的环境因素，如致畸剂，可能与调节骨骼发育的分子途径相互作用。
相似文献
1
Molecular basis for skeletal variation: insights from developmental genetic studies in mice.骨骼变异的分子基础：来自小鼠发育遗传学研究的见解
Birth Defects Res B Dev Reprod Toxicol. 2007 Dec;80(6):425-50. doi: 10.1002/bdrb.20136.
2
Skeletal malformations and variations in developmental toxicity studies: interpretation issues for human risk assessment.发育毒性研究中的骨骼畸形与变异：人类风险评估的解读问题
Birth Defects Res B Dev Reprod Toxicol. 2007 Dec;80(6):421-4. doi: 10.1002/bdrb.20135.
3
Alternative experimental approaches for interpreting skeletal findings in safety studies.在安全性研究中解释骨骼发现的替代实验方法。
Birth Defects Res B Dev Reprod Toxicol. 2007 Dec;80(6):497-504. doi: 10.1002/bdrb.20132.
4
Gene expression in teratogenic exposures: a new approach to understanding individual risk.致畸物暴露中的基因表达：一种理解个体风险的新方法。
Reprod Toxicol. 2014 Jun;45:94-104. doi: 10.1016/j.reprotox.2013.12.008. Epub 2014 Jan 31.
5
Assessment of Gross Fetal Malformations: The Modernized Wilson Technique and Skeletal Staining.胎儿大体畸形评估：现代化的威尔逊技术与骨骼染色
Methods Mol Biol. 2019;1965:421-434. doi: 10.1007/978-1-4939-9182-2_27.
6
Thoracic skeletal defects and cardiac malformations: a common epigenetic link?
Birth Defects Res C Embryo Today. 2006 Dec;78(4):354-70. doi: 10.1002/bdrc.20084.
7
Valproic acid-induced somite teratogenesis in the chick embryo: relationship with Pax-1 gene expression.丙戊酸诱导鸡胚体节致畸作用：与Pax-1基因表达的关系。
Teratology. 1996 Aug;54(2):93-102. doi: 10.1002/(SICI)1096-9926(199606)54:2<93::AID-TERA5>3.0.CO;2-5.
8
Axial skeletal and Hox expression domain alterations induced by retinoic acid, valproic acid, and bromoxynil during murine development.维甲酸、丙戊酸和溴苯腈在小鼠发育过程中诱导的轴向骨骼和Hox表达域改变。
J Biochem Mol Toxicol. 2003;17(6):346-56. doi: 10.1002/jbt.10098.
9
Effects of drugs on the skeletal development of the chick embryo.
Clin Orthop Relat Res. 1964 Mar-Apr;33:59-70.
10
Valproic acid-induced skeletal malformations: associated gene expression cascades.
Pharmacogenet Genomics. 2005 Nov;15(11):787-800. doi: 10.1097/01.fpc.0000170914.11898.3a.
引用本文的文献
1
Impact of the Endocannabinoid System on Bone Formation and Remodeling in p62 KO Mice.内源性大麻素系统对p62基因敲除小鼠骨形成和重塑的影响。
Front Pharmacol. 2022 Mar 22;13:858215. doi: 10.3389/fphar.2022.858215. eCollection 2022.
2
Morpholino-mediated knockdown in primary chondrocytes implicates Hoxc8 in regulation of cell cycle progression.在原代软骨细胞中，吗啉代介导的敲低表明Hoxc8参与细胞周期进程的调控。
Bone. 2009 Apr;44(4):708-16. doi: 10.1016/j.bone.2008.10.057. Epub 2008 Nov 21.
3
Folate modulates Hox gene-controlled skeletal phenotypes.叶酸调节由Hox基因控制的骨骼表型。
Genesis. 2004 Jul;39(3):155-66. doi: 10.1002/gene.20036.
本文引用的文献
1
A complex oscillating network of signaling genes underlies the mouse segmentation clock.一个由信号基因组成的复杂振荡网络是小鼠体节时钟的基础。
Science. 2006 Dec 8;314(5805):1595-8. doi: 10.1126/science.1133141. Epub 2006 Nov 9.
2
The Development of Normal and Homozygous Brachy (T/T) Mouse Embryos in the Extraembryonic Coelom of the Chick.正常和纯合短肢（T/T）小鼠胚胎在鸡胚外体腔中的发育
Proc Natl Acad Sci U S A. 1944 Jun 15;30(6):134-40. doi: 10.1073/pnas.30.6.134.
3
Gli3 acts as a repressor downstream of Ihh in regulating two distinct steps of chondrocyte differentiation.Gli3在调节软骨细胞分化的两个不同步骤中作为Ihh下游的阻遏物发挥作用。
Development. 2005 Dec;132(23):5249-60. doi: 10.1242/dev.02097.
4
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.纯合子HOXA1突变会破坏人类脑干、内耳、心血管和认知发育。
Nat Genet. 2005 Oct;37(10):1035-7. doi: 10.1038/ng1636. Epub 2005 Sep 11.
5
Off limits--integrins holding boundaries in somitogenesis.禁区——整合素在体节发生中维持边界
Trends Cell Biol. 2005 Sep;15(9):453-7. doi: 10.1016/j.tcb.2005.07.008.
6
Somite formation: where left meets right.体节形成：左右交会之处。
Curr Biol. 2005 Jun 21;15(12):R468-70. doi: 10.1016/j.cub.2005.06.013.
7
Synchronised cycling gene oscillations in presomitic mesoderm cells require cell-cell contact.体节中胚层细胞中的同步循环基因振荡需要细胞间接触。
Int J Dev Biol. 2005;49(2-3):309-15. doi: 10.1387/ijdb.041958mm.
8
FGF signaling in the developing endochondral skeleton.发育中的软骨内骨骼中的成纤维细胞生长因子信号传导。
Cytokine Growth Factor Rev. 2005 Apr;16(2):205-13. doi: 10.1016/j.cytogfr.2005.02.003. Epub 2005 Apr 1.
9
Integrinalpha5-dependent fibronectin accumulation for maintenance of somite boundaries in zebrafish embryos.整合素α5依赖性纤连蛋白积累对斑马鱼胚胎体节边界的维持作用
Dev Cell. 2005 Apr;8(4):587-98. doi: 10.1016/j.devcel.2005.03.006.
10
Coupling segmentation to axis formation.将分割与轴形成相耦合。
Development. 2004 Dec;131(23):5783-93. doi: 10.1242/dev.01519.
Zotero 插件