Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath.
Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath.
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DOI：
10.1038/jid.2011.450
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发表时间：
2012-03
影响因子：
6.5
通讯作者：
Lee, Chang-Hun
中科院分区：
文献类型：
--
作者：
Coulombe, Pierre A.;Lee, Chang-Hun
单纯性大疱性表皮病是一种罕见的遗传性疾病，其典型表现为皮肤摩擦创伤后的浅表大疱性病变。大多数EBS病例是由于角蛋白14（K14）或K5中的显性作用突变，角蛋白14或K5是I型和II型中间丝（IF）蛋白，其在表皮和相关上皮的基底角质形成细胞中共结合以形成10 nm细丝的泛细胞质网络。K5-K14细丝网络结构的缺陷导致基底角质形成细胞变得脆弱，并导致它们在暴露于机械创伤时破裂。EBS的病因学和病理生理学的发现与对皮肤上皮细胞中角蛋白丝的性质和功能的理解密切相关。从那时起，基础科学工作和临床工作之间的持续交叉受精强调了皮肤中角蛋白的几个额外功能作用，提出了有效治疗角蛋白疾病的新途径，并扩大了我们对皮肤作为器官系统的显着特性的理解。
Epidermolysis bullosa simplex (EBS) is a rare genetic condition typified by superficial bullous lesions following incident frictional trauma to the skin. Most cases of EBS are due to dominantly-acting mutations in keratin 14 (K14) or K5, the type I and II intermediate filament (IF) proteins that co-polymerize to form a pan-cytoplasmic network of 10nm filaments in basal keratinocytes of epidermis and related epithelia. Defects in K5–K14 filament network architecture cause basal keratinocytes to become fragile, and account for their rupture upon exposure to mechanical trauma. The discovery of the etiology and pathophysiology of EBS was intimately linked to the quest for an understanding of the properties and function of keratin filaments in skin epithelia. Since then, continued cross-fertilization between basic science efforts and clinical endeavors has highlighted several additional functional roles for keratin proteins in the skin, suggested new avenues for effective therapies for keratin-based diseases, and expanded our understanding of the remarkable properties of skin as an organ system.
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影响因子：
6.5
作者：
ANTONLAMPRECHT, I
通讯作者：
ANTONLAMPRECHT, I
DOI：
10.1111/j.1365-2133.1938.tb10576.x
发表时间：
1938-01-01
影响因子：
--
作者：
Cockayne, EA
通讯作者：
Cockayne, EA
影响因子：
7.8
作者：
ALBERS, K;FUCHS, E
通讯作者：
FUCHS, E
影响因子：
10.3
作者：
Chamcheu, J. C.;Virtanen, M.;Torma, H.
通讯作者：
Torma, H.
DOI：
10.1073/pnas.90.15.7414
发表时间：
1993-08-01
影响因子：
11.1
作者：
CHAN, YM;YU, QC;FUCHS, E
通讯作者：
FUCHS, E