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Menkes disease: recent advances and new aspects.

作者信息

Tümer Z, Horn N

机构信息

John F Kennedy Institute, Glostrup, Denmark.

出版信息

J Med Genet. 1997 Apr;34(4):265-74. doi: 10.1136/jmg.34.4.265.

DOI:10.1136/jmg.34.4.265
PMID:9138147
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050910/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd0b/1050910/1c63524a9310/jmedgene00246-0005-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd0b/1050910/8b1d16fa6ac0/jmedgene00246-0002-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd0b/1050910/52a028ae2c50/jmedgene00246-0003-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd0b/1050910/068c5e34e1f6/jmedgene00246-0004-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd0b/1050910/2c00be0a2b68/jmedgene00246-0005-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd0b/1050910/1c63524a9310/jmedgene00246-0005-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd0b/1050910/8b1d16fa6ac0/jmedgene00246-0002-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd0b/1050910/52a028ae2c50/jmedgene00246-0003-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd0b/1050910/068c5e34e1f6/jmedgene00246-0004-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd0b/1050910/2c00be0a2b68/jmedgene00246-0005-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd0b/1050910/1c63524a9310/jmedgene00246-0005-b.jpg

相似文献

1
Menkes disease: recent advances and new aspects.门克斯病：最新进展与新视角
J Med Genet. 1997 Apr;34(4):265-74. doi: 10.1136/jmg.34.4.265.
2
[Menkes' disease and brain dysfunction].[门克斯病与脑功能障碍]
No To Shinkei. 2001 May;53(5):427-35.
3
Menkes and Wilson diseases.门克斯病和威尔逊病。
Adv Genet. 1995;33:233-53. doi: 10.1016/s0065-2660(08)60335-1.
4
Copper transport and its alterations in Menkes and Wilson diseases.铜转运及其在门克斯病和威尔逊病中的改变。
Biochim Biophys Acta. 1997 Feb 27;1360(1):3-16. doi: 10.1016/s0925-4439(96)00064-6.
5
A green light glows on copper disorders research.铜紊乱研究领域前景光明。
Trends Biochem Sci. 2001 Feb;26(2):92.
6
Molecular mechanisms of copper homeostasis.铜稳态的分子机制。
Biochem Biophys Res Commun. 1999 Aug 2;261(2):225-32. doi: 10.1006/bbrc.1999.1073.
7
Prenatal diagnosis of Menkes disease.
Prenat Diagn. 1998 Mar;18(3):287-9.
8
Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters.小鼠斑驳基因和毒性乳基因的发育表达表明门克斯病和威尔逊病铜转运蛋白具有不同功能。
Hum Mol Genet. 1997 Jul;6(7):1043-9. doi: 10.1093/hmg/6.7.1043.
9
Clinical expression of Menkes disease in a girl with X;13 translocation.一名患有X;13易位的女孩的门克斯病临床表型。
Am J Med Genet. 1999 Dec 3;87(4):354-9.
10
Structure-function analysis of purified Enterococcus hirae CopB copper ATPase: effect of Menkes/Wilson disease mutation homologues.嗜热栖热放线菌CopB铜ATP酶的结构-功能分析：门克斯病/威尔逊病突变同源物的影响
Biochem J. 2001 Jul 1;357(Pt 1):217-23. doi: 10.1042/0264-6021:3570217.

引用本文的文献

1
Copper-histidine therapy in an infant with novel splice-site variant in the gene of Menkes disease: the first experience in South East Asia and literature review.铜-组氨酸治疗 Menkes 病基因新型剪接位点变异婴儿：东南亚的首次经验和文献复习。
BMJ Case Rep. 2022 Apr 7;15(4):e247937. doi: 10.1136/bcr-2021-247937.
2
Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease.毛发镜检查相对于毛发光学显微镜检查在门克斯病中的效用
Skin Appendage Disord. 2022 Jan;8(1):57-60. doi: 10.1159/000518368. Epub 2021 Sep 2.
3
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.

本文引用的文献

1
Electrophoretic variation for x-chromosome-linked phosphoglycerate kinase (pgk-1) in the mouse.X 染色体连锁磷酸甘油酸激酶（pgk-1）在小鼠中的电泳变异。
Genetics. 1977 Oct;87(2):319-25. doi: 10.1093/genetics/87.2.319.
2
A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.一种伴性隐性疾病，伴有生长发育迟缓、特殊毛发以及局灶性脑和小脑变性。
Pediatrics. 1962 May;29:764-79.
3
Identification of point mutations in 41 unrelated patients affected with Menkes disease.对41名患门克斯病的非亲属患者的点突变进行鉴定。
定义枕角综合征的临床、分子和超微结构特征：两例新病例及文献复习。
Genes (Basel). 2019 Jul 12;10(7):528. doi: 10.3390/genes10070528.
4
Menkes disease: what a multidisciplinary approach can do.门克斯病：多学科方法能发挥的作用。
J Multidiscip Healthc. 2016 Aug 17;9:371-85. doi: 10.2147/JMDH.S93454. eCollection 2016.
5
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.门克斯病来源的诱导多能干细胞中骨生成受损。
Stem Cell Res Ther. 2015 Sep 7;6(1):160. doi: 10.1186/s13287-015-0147-5.
6
Menkes kinky hair disease.门克斯卷发综合征
Indian J Dermatol. 2012 Sep;57(5):407-9. doi: 10.4103/0019-5154.100503.
7
Peptidylgycine α-amidating monooxygenase and copper: a gene-nutrient interaction critical to nervous system function.肽基甘氨酸 α-酰胺化单加氧酶和铜：对神经系统功能至关重要的基因-营养相互作用。
J Neurosci Res. 2010 Sep;88(12):2535-45. doi: 10.1002/jnr.22404.
8
Menkes disease.Menkes 病。
Eur J Hum Genet. 2010 May;18(5):511-8. doi: 10.1038/ejhg.2009.187. Epub 2009 Nov 4.
9
Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction.肽酰胺化与铜的相互作用：神经功能障碍的新型生物标志物和机制。
Neurobiol Dis. 2010 Jan;37(1):130-40. doi: 10.1016/j.nbd.2009.09.016. Epub 2009 Oct 6.
10
Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases.人类铜转运ATP酶突变氨基酸序列与其相关疾病之间的定量关系。
Mol Divers. 2008 May;12(2):119-29. doi: 10.1007/s11030-008-9084-x. Epub 2008 Aug 8.
Am J Hum Genet. 1997 Jan;60(1):63-71.
4
Early copper-histidine treatment for Menkes disease.早期铜-组氨酸治疗门克斯病。
Nat Genet. 1996 Jan;12(1):11-3. doi: 10.1038/ng0196-11.
5
Cellular copper transport.细胞铜转运
Annu Rev Nutr. 1995;15:293-322. doi: 10.1146/annurev.nu.15.070195.001453.
6
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.门克斯病候选基因的分离及其编码铜转运ATP酶的证据。
Nat Genet. 1993 Jan;3(1):7-13. doi: 10.1038/ng0193-7.
7
Are X-linked cutis laxa and Menkes disease allelic?
Nat Genet. 1993 Jan;3(1):6. doi: 10.1038/ng0193-6.
8
Isolation of a partial candidate gene for Menkes disease by positional cloning.通过定位克隆分离门克斯病的部分候选基因。
Nat Genet. 1993 Jan;3(1):20-5. doi: 10.1038/ng0193-20.
9
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.分离出一种门克斯病的候选基因，该基因编码一种潜在的重金属结合蛋白。
Nat Genet. 1993 Jan;3(1):14-9. doi: 10.1038/ng0193-14.
10
A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.门克斯病的细胞遗传学研究：对X连锁疾病中染色体重排检测的启示
J Med Genet. 1993 Apr;30(4):314-5. doi: 10.1136/jmg.30.4.314.