Molecular pathology of filamin A: diverse phenotypes, many functions.

Robertson SP

首页> 外文期刊>Clinical dysmorphology >Molecular pathology of filamin A: diverse phenotypes, many functions.

【24h】

Molecular pathology of filamin A: diverse phenotypes, many functions.

机译：Flamin A的分子病理学：不同的表型，许多功能。

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Defective cell signalling during embryonic development is a well-recognized modus operandi of mutations in genes that lead to congenital malformations. This signalling occurs within and around a dynamic cellular cytoskeleton that is continuously under modulating influences during morphogenesis. Evidence is accumulating to suggest that filamin A, an actin-binding protein and the product of one of three paralogous filamin genes in humans, represents a key molecule that connects such signalling events to modulation of the cellular cytoskeletal architecture. This review summarizes the clinical consequences of mutations in the gene encoding filamin A, FLNA. The molecular pathology of this gene suggests remarkable functional pleiotropy, indicative of diverse roles in embryonic, fetal and postnatal development.

机译：胚胎发育过程中的缺陷细胞信号传导是导致先天性畸形的基因突变的公认方法。该信号传导发生在动态细胞骨架内部和周围，该动态骨架在形态发生过程中持续受到调节影响。越来越多的证据表明，纤维蛋白A（一种肌动蛋白结合蛋白，是人类三个旁系同源纤维蛋白基因之一的产物）代表了一种关键分子，其将此类信号事件与细胞骨架结构的调节联系起来。这篇综述总结了编码纤维蛋白A，FLNA的基因突变的临床后果。该基因的分子病理学表明，功能性多效性非常显着，表明在胚胎，胎儿和出生后发育中的各种作用。

著录项

来源
《Clinical dysmorphology》 |2004年第3期|共9页
作者
Robertson SP;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类神经病学与精神病学;
关键词
gyronemin; Pathology processes; Cellular biology; Phenotype; 表型;

机译：绞股蓝;病理过程;细胞生物学;表型;表型;

相似文献

外文文献
中文文献
专利

1. Molecular pathology of filamin A: diverse phenotypes, many functions. [J] . Robertson SP Clinical dysmorphology . 2004,第3期

机译：Flamin A的分子病理学：不同的表型，许多功能。
2. The prion protein unstructured N-terminal region is a broad-spectrum molecular sensor with diverse and contrasting potential functions. [J] . Maxime Béland, Xavier Roucou Journal of Neurochemistry: Offical Journal of the International Society for Neurochemistry . 2012,第5a6期

机译：ion病毒蛋白的非结构化N末端区域是一种具有多种潜在功能的广谱分子传感器。
3. The prion protein unstructured N-terminal region is a broad-spectrum molecular sensor with diverse and contrasting potential functions. [J] . Maxime Béland, Xavier Roucou Journal of Neurochemistry: Offical Journal of the International Society for Neurochemistry . 2012,第5a6期

机译：朊病毒蛋白非结构化N末端区域是具有多样化和对比势函数的广谱分子传感器。
4. Mechanical Response of Single Filamin A (ABP-280) Molecules and Its Role in the Actin/Filamin A Gel [C] . Ryoko Sano, Shou Furuike, Tadanao Ito, International Symposium on Slow Dynamics in Complex Systems . 2004

机译：单丝丝素A（ABP-280）分子的机械响应及其在肌动蛋白/菲素的作用凝胶
5. Identification and Clinical Validation of Novel Prostate Cancer Biomarkers Filamin A (FLNA), Filamin B (FLNB), and Keratin 19 (KRT19) Using Patient-Derived Omics and Bayesian Artificial Intelligence [D] . Narain, Niven Rajin. 2018

机译：使用患者衍生的OMIC和贝叶斯人工智能，新型前列腺癌生物标志物菲莫林A（FLNA），丝素B（FLNB）和角蛋白19（KRT19）的鉴定及临床验证
6. Antibiotic resistance and molecular characterization of the hydrogen sulfide-negative phenotype among diverse Salmonella serovars in China [O] . Jing Xie, Fuli Wu, Xuebin Xu, 2018

机译：中国不同沙门氏菌血清中的硫化氢阴性表型的耐药性和分子表征
7. PhenoMIP: High-Throughput Phenotyping of Diverse Caenorhabditis elegans Populations via Molecular Inversion Probes [O] . Calvin Mok, Gabriella Belmarez, Mark L Edgley, 2020

机译：Phenomip：通过分子反转探测的多种Caenorhabdise胶带杆菌的高通量表型

Molecular pathology of filamin A: diverse phenotypes, many functions.

摘要

著录项

相似文献

相关主题

期刊订阅