Advances in experimental medicine and biology最新文献_第4页

A Knockin Model with the Mouse Equivalent to the c.2299delG Mutation in Usherin Exhibits Early-Onset Hearing Loss and Progressive Retinal Degeneration. 诱导因子c.2299delG突变小鼠敲入模型显示早发性听力损失和进行性视网膜变性。

4区医学

Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-76550-6_42

Lars Tebbe, Muayyad R Al-Ubaidi, Muna I Naash

{"title":"A Knockin Model with the Mouse Equivalent to the c.2299delG Mutation in Usherin Exhibits Early-Onset Hearing Loss and Progressive Retinal Degeneration.","authors":"Lars Tebbe, Muayyad R Al-Ubaidi, Muna I Naash","doi":"10.1007/978-3-031-76550-6_42","DOIUrl":"10.1007/978-3-031-76550-6_42","url":null,"abstract":"Usher syndrome (USH) is the predominant cause of inherited deaf-blindness, largely attributed to type 2A (USH2A) mutations, and particularly the prevalent c.2299delG mutation. While knockout models successfully replicated the cochlear phenotype of USH, recapitulating the retinal phenotype proved challenging. Given that patient mutations often lead to mutant protein expression rather than its absence, we developed a knockin model expressing the mouse equivalent of the c.2299delG mutation in USH2A. This model exhibited a functional decline in the retina, characterized by retinal degeneration, structural anomalies in the connecting cilium and outer segment, and mislocalization of mutant USH2A and its interacting partners ADGRV1 and whirlin. Remarkably, retinal symptoms manifested earlier than in the Ush2a-/- mice. In the cochlea, the expression of truncated USH2A resulted in congenital hearing loss and disorganized stereocilia bundles. Thus, this knockin model underscores the necessity of expressing the mutant protein to faithfully reproduce the USH phenotype, providing valuable insights into the pathology of USH.","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1468 ","pages":"253-257"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143389487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Interacting Fat1 and Dchs Planar Cell Polarity Proteins Supported by Fjx1 Serve as Heterodimeric Intercellular Bridges Crucial to Support Spermatogenesis. Fjx1支持的Fat1和Dchs平面细胞极性蛋白相互作用是支持精子发生的关键异二聚体细胞间桥梁。

4区医学

Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-82990-1_15

Tiao Bu, Lingling Wang, Xiaolong Wu, Sheng Gao, Damin Yun, Baiping Mao, Linxi Li, Fei Sun, C Yan Cheng

{"title":"Interacting Fat1 and Dchs Planar Cell Polarity Proteins Supported by Fjx1 Serve as Heterodimeric Intercellular Bridges Crucial to Support Spermatogenesis.","authors":"Tiao Bu, Lingling Wang, Xiaolong Wu, Sheng Gao, Damin Yun, Baiping Mao, Linxi Li, Fei Sun, C Yan Cheng","doi":"10.1007/978-3-031-82990-1_15","DOIUrl":"https://doi.org/10.1007/978-3-031-82990-1_15","url":null,"abstract":"Studies of the planar cell polarity (PCP) protein complexes Fat1/Fjx1 and Dchs/Fjx1 that form heterotypic interacting bridges of Fat1-Dchs between adjacent cells to confer PCP, as noted in Drosophila, are also found in mammalian cells and tissues as orthologs, such as in Sertoli cells and condensed spermatids in the seminiferous epithelium of the testis. Recent studies have shown that these two interacting PCP protein complexes are also crucial regulators of microtubule and actin dynamics, modulating the polymerization of both microtubules and actin filaments in the testis. In this review, we provide a brief update and thought-provoking concept on the PCP core proteins and the associated downstream signaling pathways utilized by PCP proteins to confer PCP and regulation of the microtubule and actin cytoskeletons in the testis. However, we focus on recent data in the field on the Fat1/Fjx1 and Dchs/Fjx1 protein complexes, which are also heterotypic interacting protein complexes, and their functional role in modulating the microtubule and actin cytoskeletal organization. Based on these recent findings, we formulate a hypothetic model depicting the role of these two PCP protein complexes in modulating the timely \"opening\" and \"closing\" of the blood-testis barrier (BTB) formed by adjacent Sertoli cells near the base of the seminiferous epithelium. Additionally, these two PCP protein complexes also modulate cytoskeletal dynamics between Sertoli cells and condensed spermatids to support haploid spermatid transport across the seminiferous epithelium during their structural transformation through spermiogenesis, and their eventual release at spermiation during the epithelial cycle of spermatogenesis. This hypothetical model will provide a useful framework for designing functional experiments to understand the role of PCP proteins in supporting spermatogenesis.","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1469 ","pages":"355-374"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143962358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Defects of Cortical Microcircuits Following Early Exposure to Alcohol. 早期接触酒精后的皮质微回路缺陷

4区医学

Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-81908-7_1

Alberto Granato

引用次数: 0

Innate Antiviral Defense of the Male Reproductive System. 男性生殖系统的先天抗病毒防御。

4区医学

Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-82990-1_3

Jing Zhang, Yixuan Yang, Daishu Han, Fei Wang

{"title":"Innate Antiviral Defense of the Male Reproductive System.","authors":"Jing Zhang, Yixuan Yang, Daishu Han, Fei Wang","doi":"10.1007/978-3-031-82990-1_3","DOIUrl":"https://doi.org/10.1007/978-3-031-82990-1_3","url":null,"abstract":"The male reproductive system (MRS) is a complex system, considering its isolated anatomical locations and special microenvironments. The major organs of the MRS, including the testis, epididymis, seminal vesicle, and prostate, are relatively separated and have distinct immune status for protecting male germ cells from adverse immune responses and counteracting microbial infection for conducting their functions. A large spectrum of viruses has tropism for the MRS and may impair male fertility. To defend against invading viruses, the MRS has developed a local innate antiviral environment to reduce virus-impaired male fertility. All major tissue cells are well equipped with innate antiviral machinery. Both tissue-specific cells and immune cells are involved in the antiviral defense against viral infection of the MRS. Understanding the mechanisms underlying local innate antiviral responses in the MRS can aid in the development of preventive and therapeutic strategies for viral diseases. This chapter focuses on pattern recognition receptor-mediated innate antiviral responses in the major cells of the testis, epididymis, seminal vesicle, and prostate.","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1469 ","pages":"49-65"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143952558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Graft Source Choice. 嫁接源选择。

4区医学

Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-84988-6_4

Sanghee Hong, Mitchell E Horwitz

{"title":"Graft Source Choice.","authors":"Sanghee Hong, Mitchell E Horwitz","doi":"10.1007/978-3-031-84988-6_4","DOIUrl":"https://doi.org/10.1007/978-3-031-84988-6_4","url":null,"abstract":"Bone marrow grafts offer a lower risk of graft-versus-host disease (GVHD) but require a surgical procedure and are associated with slower engraftment rates. Peripheral blood stem cells (PBSCs) enable faster engraftment and easier collection but have historically been associated with a higher risk of GVHD. Umbilical cord blood (UCB) grafts are readily available and carry no donor risk, with a higher tolerance for human leukocyte antigen mismatches and a lower risk of GVHD, but they are constrained by limited cell doses and slower engraftment. Recent advancements in transplant techniques-such as post-transplant cyclophosphamide to reduce GVHD rates in PBSC grafts, and cord blood expansion methods to increase the effectiveness of UCB grafts-have significantly improved transplant outcomes.Each graft source offers unique benefits and drawbacks that impact the selection process, factoring in patient age, disease type, donor availability, engraftment speed, immune recovery, GVHD risk, and logistical and financial considerations. These complexities highlight the need for a comprehensive and tailored approach to graft source selection, alongside adherence to guidelines and best practices, to optimize outcomes in allogeneic hematopoietic cell transplantation.","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1475 ","pages":"57-75"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144245645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Best Vitelliform Macular Dystrophy. 最佳黄斑营养不良。

4区医学

Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-72230-1_16

Laura A Jenny, Stephen H Tsang, Tarun Sharma

引用次数: 0

Blue Cone Monochromatism. 蓝锥单色。

4区医学

Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-72230-1_14

Kristina J Hartung, Stephen H Tsang, Tarun Sharma, Vlad Diaconita

引用次数: 0

Optical Coherence Tomography. 光学相干断层成像。

4区医学

Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-72230-1_3

Stephen H Tsang, Tarun Sharma

引用次数: 0

Circular RNAs Binding to RNA-Binding Proteins. 环状rna与rna结合蛋白结合。

4区医学

Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-981-96-9428-0_10

Mandakini Singh, Kirthik Roshan, Srinivasan Muthuswamy, Ajay Kumar, Santosh Kumar

{"title":"Circular RNAs Binding to RNA-Binding Proteins.","authors":"Mandakini Singh, Kirthik Roshan, Srinivasan Muthuswamy, Ajay Kumar, Santosh Kumar","doi":"10.1007/978-981-96-9428-0_10","DOIUrl":"https://doi.org/10.1007/978-981-96-9428-0_10","url":null,"abstract":"High-throughput RNA sequencing yields novel noncoding RNAs called circular RNAs (circRNAs). They are extensively distributed across the transcriptomes of humans and other metazoans. Research has demonstrated their critical functions in multiple cellular developmental processes and diseases, including cancer, cognitive disorders, and neurodegenerative disorders (NDDs). Aside from this, circRNAs carry out cellular functions by associating with RNA-binding proteins (RBPs) that are unique for each cell type. Given that they are a vast family of proteins, RBPs regulate gene expression through various processes like stabilization, localization, splicing, nuclear export, and RNA translation. The impact of circRNAs and the RBP complex on circRNA synthesis has become more apparent in recent years. As per new findings, circRNAs interact with RBPs and modify the way in which other RNAs and proteins operate. Numerous diseases are also linked to these relationships. Because of this, research regarding the circRNA and RBP relationship is crucial to comprehend the origins of a number of disorders. This chapter describes the newly discovered mechanisms underlying the interactions between circRNAs and RBPs as well as their functional significance in both illnesses and biological processes.","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1485 ","pages":"151-167"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Muscular Dystrophies. 肌肉营养不良。

4区医学

Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-88361-3_11

Yi-Wen Chen, Adam J Bittel, Daniel C Bittel, Young Jae Moon, Nikki M McCormack, Jyoti K Jaiswal

引用次数: 0