Defects in epidermal morphogenesis in mammalian Grainyhead-like gene deficient mice

皮肤细胞在哺乳动物胚胎的发育中起着至关重要的作用。它们对于脑和脊髓的闭合、形成抵抗感染和有害刺激的保护屏障、防止过量体液流失、修复缺陷和伤口以及产生毛发至关重要。我们的实验室已经确定了对所有这些过程都至关重要的基因家族。家庭个别成员的丧失会产生不同的后果，本研究的目的是确定基因之间的关系，以进一步了解皮肤及其功能。这些研究与人类疾病有直接和重要的关系，如先天性出生缺陷脊柱裂和无脑畸形，以及皮肤发育不全和缺乏屏障功能的早产儿。它们还与伤口愈合和影响毛发生长的病症如脱发有关。我们相信，治疗干预和产前诊断测试可以从这些研究中发展出来。

The cells of the skin play an essential role in development of the mammalian embryo. They are critical for closure of the brain and spinal cord, for forming a protective barrier against infection and noxious stimuli, for preventing excess fluid loss, for repair of defects and wounds, and for the generation of hair. Our laboratory has identified a family of genes that are critical for all these processes. Loss of individual members of the family has different consequences and the aim of this study is to determine the relationship between the genes to further our understanding of the skin and its functions. These studies have direct and important relevance to human conditions such as the congenital birth defects spina bifida and anencephaly, and infant prematurity where the skin is underdeveloped and lacks barrier function. They also have relevance to wound healing and to conditions in which hair growth is affected, such as alopecia. We believe that therapeutic interventions and prenatal diagnostic tests could evolve from these studies.