[夏尔综合征基因研究进展]。

Meifang Zhao, Liangliang Fan, Rong Xiang
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引用次数: 0

摘要

夏尔综合征是一种罕见的常染色体显性遗传疾病,以动脉导管未闭、面部畸形和手指/脚趾发育不良为特征。它还可能与多乳头、牙齿发育不良和睡眠障碍有关。TFAP2B 已被证明是神经嵴衍生和发育的致病基因,该基因的多个变体已被确认。骨形态发生蛋白信号在胚胎发育中发挥着重要作用,它参与肢体的生长和模式化,并调控神经嵴细胞的发育。TFAP2B 是骨形态发生蛋白 2 和 4 的上游调控基因。TFAP2B 基因变异可能会影响骨形态发生蛋白的表达,导致神经嵴细胞异常增殖,从而引发多器官发育不良综合征。此外,TFAP2B 基因变异可能只导致动脉导管未闭,而不是典型的夏尔综合征。
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[Research progress of genetic research on Char syndrome].

Char syndrome is a rare autosomal dominant genetic disorder characterized by patent ductus arteriosus, facial dysmorphism, and dysplasia of fingers/toes. It may also be associated with multiple papillae, dental dysplasia, and sleep disorders. TFAP2B has proven to be a pathogenic gene for neural crest derivation and development, and several variants of this gene have been identified. Bone morphogenetic protein signaling plays an important role in embryonic development by participating in limb growth and patterning, and regulation of neural crest cell development. TFAP2B is an upstream regulatory gene for bone morphogenetic proteins 2 and 4. Variants of the TFAP2B gene may lead to abnormal proliferation of neural crest cells by affecting the expression of bone morphogenetic proteins, resulting in multiple organ dysplasia syndrome. In addition, TFAP2B variants may only lead to patent ductus arteriosus instead of typical Char syndrome.

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来源期刊
中华医学遗传学杂志
中华医学遗传学杂志 Medicine-Medicine (all)
CiteScore
0.50
自引率
0.00%
发文量
9521
期刊介绍: Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.
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