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A single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum.

作者信息

Berndt Annerose, Li Qiaoli, Potter Christopher S, Liang Yanhua, Silva Kathleen A, Kennedy Victoria, Uitto Jouni, Sundberg John P

机构信息

Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania, USA.

出版信息

J Invest Dermatol. 2013 Mar;133(3):833-836. doi: 10.1038/jid.2012.340. Epub 2012 Sep 27.

DOI:10.1038/jid.2012.340
PMID:23014343
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4037127/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c7e/4037127/bd8c18e13317/nihms-402151-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c7e/4037127/bd8c18e13317/nihms-402151-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c7e/4037127/bd8c18e13317/nihms-402151-f0001.jpg

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A single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum.Abcc6基因中的单核苷酸多态性与小鼠的结缔组织矿化有关，类似于弹性假黄瘤的靶向模型。
J Invest Dermatol. 2013 Mar;133(3):833-836. doi: 10.1038/jid.2012.340. Epub 2012 Sep 27.
2
Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues.ABCC6基因的靶向消融导致结缔组织的异位矿化。
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3
A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse.一种新的假性弹性黄色瘤动物模型：KK/HlJ 小鼠。
Am J Pathol. 2012 Oct;181(4):1190-6. doi: 10.1016/j.ajpath.2012.06.014. Epub 2012 Jul 28.
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Pseudoxanthoma elasticum is a metabolic disease.弹性假黄瘤是一种代谢性疾病。
J Invest Dermatol. 2009 Feb;129(2):348-54. doi: 10.1038/jid.2008.212. Epub 2008 Aug 14.
5
The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum.Abcc6（-/-）小鼠的矿化表型受 Ggcx 基因缺失和遗传背景的影响——一种假性弹性假黄瘤的模型。
J Mol Med (Berl). 2010 Feb;88(2):173-81. doi: 10.1007/s00109-009-0522-8. Epub 2009 Sep 27.
6
Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) ).限制饮食中的镁会加速弹性假黄瘤（Abcc6(-/-) ）小鼠模型中的异位结缔组织矿化。
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Targeted ablation of Abcc1 or Abcc3 in Abcc6(-/-) mice does not modify the ectopic mineralization process.在Abcc6基因敲除小鼠中对Abcc1或Abcc3进行靶向消融不会改变异位矿化过程。
Exp Dermatol. 2007 Oct;16(10):853-9. doi: 10.1111/j.1600-0625.2007.00621.x.
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Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors.弹性假黄瘤小鼠模型中结缔组织的异常矿化：全身和局部调节因子
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Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes.弹性假黄瘤的小鼠模型：异位矿化表型的遗传和饮食调节
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Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).在弹性假黄瘤小鼠模型（Abcc6(-/-)）中，增加饮食中的镁可预防结缔组织矿化。
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本文引用的文献

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Connective tissue mineralization in Abcc6-/- mice, a model for pseudoxanthoma elasticum.Abcc6-/- 小鼠的结缔组织矿化，一种假性弹性假黄瘤的模型。
Matrix Biol. 2012 May;31(4):246-52. doi: 10.1016/j.matbio.2012.02.004. Epub 2012 Mar 6.
2
Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.弹性假黄瘤：分子遗传学和可能的发病机制。
J Invest Dermatol. 2010 Mar;130(3):661-70. doi: 10.1038/jid.2009.411. Epub 2009 Dec 24.
3
The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum.
遗传性多发性异位矿化障碍——弹性假黄瘤的分子遗传学和修饰基因。
J Invest Dermatol. 2021 May;141(5):1148-1156. doi: 10.1016/j.jid.2020.10.013. Epub 2020 Dec 17.
4
Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum.数量性状基因座和综合基因组学揭示了弹性假黄瘤小鼠模型中异位矿化的候选修饰基因。
J Invest Dermatol. 2019 Dec;139(12):2447-2457.e7. doi: 10.1016/j.jid.2019.04.023. Epub 2019 Jun 15.
5
Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.弹性假黄瘤作为遗传性异位矿化疾病的典范：发病机制与治疗进展。
Am J Pathol. 2019 Feb;189(2):216-225. doi: 10.1016/j.ajpath.2018.09.014. Epub 2018 Nov 7.
6
Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase.弹性假黄瘤中的异位钙化对组织非特异性碱性磷酸酶的抑制有反应。
Sci Transl Med. 2017 Jun 7;9(393). doi: 10.1126/scitranslmed.aal1669.
7
Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016.遗传性异位矿化疾病的发病机制与治疗进展：2016年PXE国际双年研究研讨会综述
J Invest Dermatol. 2017 Apr;137(4):790-795. doi: 10.1016/j.jid.2016.12.014.
8
Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.Abcc6基因敲除大鼠模型突显了肝脏在弹性假黄瘤中焦磷酸稳态中的作用。
J Invest Dermatol. 2017 May;137(5):1025-1032. doi: 10.1016/j.jid.2016.11.042. Epub 2017 Jan 19.
9
Mouse genome-wide association study identifies polymorphisms on chromosomes 4, 11, and 15 for age-related cardiac fibrosis.小鼠全基因组关联研究确定了与年龄相关的心脏纤维化在4号、11号和15号染色体上的多态性。
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Approaches to Investigating Complex Genetic Traits in a Large-Scale Inbred Mouse Aging Study.在大规模近交系小鼠衰老研究中探究复杂遗传性状的方法。
Vet Pathol. 2016 Mar;53(2):456-67. doi: 10.1177/0300985815612556.
Abcc6（-/-）小鼠的矿化表型受 Ggcx 基因缺失和遗传背景的影响——一种假性弹性假黄瘤的模型。
J Mol Med (Berl). 2010 Feb;88(2):173-81. doi: 10.1007/s00109-009-0522-8. Epub 2009 Sep 27.
4
Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).在弹性假黄瘤小鼠模型（Abcc6(-/-)）中，增加饮食中的镁可预防结缔组织矿化。
J Invest Dermatol. 2009 Jun;129(6):1388-94. doi: 10.1038/jid.2008.391. Epub 2009 Jan 1.
5
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.一个具有弹性假黄瘤样表型的家族中GGCX和ABCC6基因的突变
J Invest Dermatol. 2009 Mar;129(3):553-63. doi: 10.1038/jid.2008.271. Epub 2008 Sep 18.
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An alternative splice variant in Abcc6, the gene causing dystrophic calcification, leads to protein deficiency in C3H/He mice.导致营养不良性钙化的基因Abcc6中的一种可变剪接变体，会导致C3H/He小鼠出现蛋白质缺乏。
J Biol Chem. 2008 Mar 21;283(12):7608-15. doi: 10.1074/jbc.M708290200. Epub 2008 Jan 16.
7
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.弹性假黄瘤国际大型病例系列中ABCC6基因的突变检测及基因型-表型分析
J Med Genet. 2007 Oct;44(10):621-8. doi: 10.1136/jmg.2007.051094. Epub 2007 Jul 6.
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SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum.SPP1启动子多态性：弹性假黄瘤首个修饰基因的鉴定
Clin Chem. 2007 May;53(5):829-36. doi: 10.1373/clinchem.2006.083675. Epub 2007 Mar 23.
9
Identification of Abcc6 as the major causal gene for dystrophic cardiac calcification in mice through integrative genomics.通过整合基因组学鉴定Abcc6为小鼠营养不良性心脏钙化的主要致病基因。
Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4530-5. doi: 10.1073/pnas.0607620104. Epub 2007 Mar 6.
10
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.伴有皮肤松弛和多种凝血因子缺乏的弹性假黄瘤样表型代表一种独立的遗传实体。
J Invest Dermatol. 2007 Mar;127(3):581-7. doi: 10.1038/sj.jid.5700610. Epub 2006 Nov 16.