HNRNPs与神经发育障碍

IF 3.7 2区生物学 Q2 CELL BIOLOGY

Current Opinion in Genetics & Development Pub Date : 2025-06-30 DOI:10.1016/j.gde.2025.102371

Madelyn A Gillentine

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引用次数: 0

摘要

HNRNP基因家族在神经退行性疾病和癌症中的研究由来已久。在过去的几年里，该基因家族的多个成员与神经发育障碍有关。迄今为止，已有9种hnrnp相关的神经发育障碍（hnrnp - rndd），至少有3种正在被积极地表征，以及少数患者的几个候选基因。在这里，我们回顾了文献和患者数据库中的1000多个个体，并描述了hnrnp - rndd的总体表型谱。此外，我们讨论了了解hnrnp - rndd的病理机制的最新进展，以及这将如何影响未来的治疗发展。

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The HNRNPs and neurodevelopmental disorders

The HNRNP gene family has long been investigated in neurodegenerative disorders and cancer. Over the last several years, multiple members of the gene family have been associated with neurodevelopmental disorders. To date, there are nine well-established HNRNP-related neurodevelopmental disorders (HNRNP-RNDDs), at least three that are actively being characterized, and several candidate genes with a small number of patients. Here, we review the over 1000 individuals in the literature and patient databases and describe the overall phenotypic spectra of the HNRNP-RNDDs. Furthermore, we discuss recent advances in understanding the pathomechanisms of the HNRNP-RNDDs and how that will impact future therapeutic development.

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来源期刊

Current Opinion in Genetics & Development 生物-细胞生物学

CiteScore

7.90

自引率

0.00%

发文量

102

审稿时长

1 months

期刊介绍： Current Opinion in Genetics and Development aims to stimulate scientifically grounded, interdisciplinary, multi-scale debate and exchange of ideas. It contains polished, concise and timely reviews and opinions, with particular emphasis on those articles published in the past two years. In addition to describing recent trends, the authors are encouraged to give their subjective opinion of the topics discussed. In Current Opinion in Genetics and Development we help the reader by providing in a systematic manner: 1. The views of experts on current advances in their field in a clear and readable form. 2. Evaluations of the most interesting papers, annotated by experts, from the great wealth of original publications.[...] The subject of Genetics and Development is divided into six themed sections, each of which is reviewed once a year: • Cancer Genomics • Genome Architecture and Expression • Molecular and genetic basis of disease • Developmental mechanisms, patterning and evolution • Cell reprogramming, regeneration and repair • Genetics of Human Origin / Evolutionary genetics (alternate years)