[Progress in research on syndromic deafness associated with variants of CREBBP gene].

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2025-03-10 DOI:10.3760/cma.j.cn511374-20241120-00608

Mingjing Liang, Xiuhong Pang

引用次数: 0

Abstract

CREBBP gene encodes the transcriptional co-activator CREB-binding protein. This protein can participate in cell growth, differentiation and development through a variety of signal transduction pathways. Variants in this gene may cause syndromic deafness by affecting signal transduction pathways and development of skeletal and nervous systems. This review has summarized the structure and function of the CREBBP gene and the pathogenetic mechanism of syndromic deafness caused by CREBBP gene variants, with an aim to provide a basis for clinical diagnosis and treatment.

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[CREBBP基因变异与综合征性耳聋的研究进展]。

CREBBP基因编码转录共激活因子creb结合蛋白。该蛋白可通过多种信号转导途径参与细胞的生长、分化和发育。该基因的变异可能通过影响信号转导途径以及骨骼和神经系统的发育而引起综合征性耳聋。本文就CREBBP基因的结构和功能以及CREBBP基因变异引起的综合征性耳聋的发病机制进行综述，以期为临床诊断和治疗提供依据。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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.