Keratin gene mutations in human skin disease.
作者信息
Stevens H P, Rustin M H
机构信息
Department of Dermatology, Royal Free Hospital and School of Medicine, London, UK.
出版信息
Postgrad Med J. 1994 Nov;70(829):775-9. doi: 10.1136/pgmj.70.829.775.
Abstract
摘要
相似文献
1
Keratin gene mutations in human skin disease.人类皮肤疾病中的角蛋白基因突变。
Postgrad Med J. 1994 Nov;70(829):775-9. doi: 10.1136/pgmj.70.829.775.
2
Epidermal disease: faulty keratin filaments take their toll.表皮疾病：有缺陷的角蛋白丝造成损害。
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3
How do keratinizing disorders and blistering disorders overlap?角化障碍和水疱性疾病如何重叠？
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4
Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis.大疱性表皮松解症和表皮松解性角化过度症中表皮角蛋白基因的突变。
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5
Keratins and skin disorders.角蛋白与皮肤疾病。
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6
Genetic approaches to understanding the keratinopathies.用于理解角蛋白病的遗传学方法。
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7
Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis.单纯性大疱性表皮松解症和表皮松解性角化过度症的遗传基础。
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8
Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis.角蛋白10基因1A杆状结构域起始处的精氨酸是表皮松解性角化过度症突变的热点。
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Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.角蛋白（KRT1和KRT10）基因的剪接位点和缺失突变：斯堪的纳维亚表皮松解性角化过度患者的异常表型改变
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The cellular and molecular biology of keratins: beginning a new era.角蛋白的细胞与分子生物学：开启新纪元。
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本文引用的文献
1
Epidermolysis bullosa resembling juvenile dermatitis herpetiformis.类青少年疱疹样皮炎的大疱性表皮松解症
Br J Dermatol. 1954 Apr;66(4):139-43. doi: 10.1111/j.1365-2133.1954.tb12605.x.
2
A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa.Hallopeau-Siemens型营养不良性大疱性表皮松解症中VII型胶原蛋白基因（COL7A1）的纯合插入缺失。
Nat Genet. 1993 Nov;5(3):287-93. doi: 10.1038/ng1193-287.
3
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).赫利茨交界型大疱性表皮松解症与巢蛋白/卡利宁（层粘连蛋白-5）γ2亚基的基因（LAMC2）突变有关。
Nat Genet. 1994 Mar;6(3):299-304. doi: 10.1038/ng0394-299.
4
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.交界型大疱性表皮松解症中kalinin/层粘连蛋白5的γ2链基因（LAMC2）突变。
Nat Genet. 1994 Mar;6(3):293-7. doi: 10.1038/ng0394-293.
5
A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis.单纯性大疱性表皮松解症（Dowling-Meara型）的角蛋白14突变热点：对诊断的意义
J Invest Dermatol. 1993 Aug;101(2):240-3. doi: 10.1111/1523-1747.ep12365079.
6
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.在一个患有泛发型单纯性大疱性表皮松解症Köbner型的家族中，对角蛋白5基因中亮氨酸至脯氨酸突变的鉴定。
Hum Mutat. 1993;2(2):94-102. doi: 10.1002/humu.1380020206.
7
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.一种位于I型角蛋白（K14）基因中的突变（甲硫氨酸→精氨酸），该基因与常染色体显性单纯性大疱性表皮松解症相关。
Hum Mutat. 1993;2(1):37-42. doi: 10.1002/humu.1380020107.
8
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.与隐性单纯性大疱性表皮松解症相关的角蛋白14杆状结构域中的错义突变。
Nat Genet. 1993 Apr;3(4):327-32. doi: 10.1038/ng0493-327.
9
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).表皮松解性掌跖角化病（EPPK）中的角蛋白9基因突变。
Nat Genet. 1994 Feb;6(2):174-9. doi: 10.1038/ng0294-174.
10
Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer.在一个患有乳腺癌和卵巢癌的家系中，表皮松解性掌跖角化病与角蛋白9突变共分离。
Nat Genet. 1994 Jan;6(1):106-10. doi: 10.1038/ng0194-106.
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