The role of nectins in morphogenesis of the primary palate: implications for non-syndromic cleft lip and palate.

连接蛋白在初级腭形态发生中的作用：对非综合征性唇裂和腭裂的影响。

• 批准号: nhmrc : 349496
• 负责人: Prof Timothy Cox
• 金额: $ 29.31万
• 依托单位: Monash University
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2005
• 资助国家: 澳大利亚
• 起止时间: 2005-01-01 至 2007-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/role-nectins-morphogenesis-lip-palate/100909
• 关键词: role; nectins; morphogenesis; primary; palate

Cleft lip with or without cleft palate may be an isolated feature or part of a wider array of abnormalities, ie. syndrome. Collectively, cleft lip and palate is the fourth most common congenital disorder in humans, occurring with a frequency of between 1 in 600 and 1 in 1000 live births worldwide. This high frequency is reflective of the heightened susceptibility of the developing face to genetic and-or environmental perturbation and likely arises as a direct consequence of the rapid and significant morphological changes that ultimately generate the human face. Yet despite the clinical significance of this abnormality and the psychological and financial burden to the patient and their family, there is relatively little known about the genetic and, in particular, cellular mechanisms responsible. We are seeking to understand the cellular and developmental role(s) of two key proteins in the formation of the upper lip and palate. It is anticipated that these studies will provide valuable new clues as to the molecular events that underlie some forms of cleft lip and palate as well as reveal a likely mechanism to explain some of the marked clinical variability that is seen most prominently in the isolated forms of cleft lip and palate. It is envisaged that these data may ultimately lead to the development of more effective diagnostic and preventative measures.

伴有或不伴有腭裂的唇裂可能是一个孤立的特征，也可能是更广泛的异常的一部分，即。综合症。总的来说，唇裂和腭裂是人类第四常见的先天性疾病，在全世界活产中发生的频率为六百分之一到千分之一。这种高频率反映了发育中的面部对遗传和/或环境扰动的高度敏感性，并且可能是最终产生人类​​面部的快速而显着的形态变化的直接结果。然而，尽管这种异常具有临床意义，并且给患者及其家人带来心理和经济负担，但人们对相关的遗传机制，特别是细胞机制知之甚少。我们正在寻求了解两种关键蛋白质在上唇和上颚形成中的细胞和发育作用。预计这些研究将为某些形式的唇裂和腭裂背后的分子事件提供有价值的新线索，并揭示一种可能的机制来解释一些在孤立形式的唇裂和腭裂中最明显的临床变异。预计这些数据最终可能会导致开发出更有效的诊断和预防措施。