Cold Spring Harbor perspectives in medicine最新文献_第7页

Functional Neuroanatomy of the Normal and Pathological Basal Ganglia. 正常与病理基底神经节的功能神经解剖学。

IF 4.9 2区医学

Cold Spring Harbor perspectives in medicine Pub Date : 2026-01-05 DOI: 10.1101/cshperspect.a041617

José L Lanciego, José A Obeso

{"title":"Functional Neuroanatomy of the Normal and Pathological Basal Ganglia.","authors":"José L Lanciego, José A Obeso","doi":"10.1101/cshperspect.a041617","DOIUrl":"10.1101/cshperspect.a041617","url":null,"abstract":"The term \"basal ganglia\" refers to a group of interconnected subcortical nuclei engaged in motor planning and movement initiation, executive functions, behaviors, and emotions. Dopamine released from the substantia nigra is the underlying driving force keeping the basal ganglia network under proper equilibrium and, indeed, reduction of dopamine levels triggers basal ganglia dysfunction, setting the groundwork for several movement disorders. The canonical basal ganglia model has been instrumental for most of our current understanding of the normal and pathological functioning of this subcortical network. This model explains how cortical information flows through the basal ganglia nuclei back to the cortex by going through two pathways with opposing effects that together lead to the proper execution of a given movement. The basal ganglia model has paved the way for the standard clinical management of Parkinson's disease, where pharmacological and neurosurgical treatments in place collectively afford an impressive symptomatic alleviation. Although much of the model has remained, the canonical model has been enriched with new arrivals gathered from evidence provided in the last three decades. Here, we sought to provide a comprehensive review of the basal ganglia network, with emphasis on structure, connectivity patterns, and basic operational principles, both in normal and pathological conditions.","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":" ","pages":""},"PeriodicalIF":4.9,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12758149/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Understanding the Warburg Effect in Cancer. 了解癌症中的沃伯格效应

IF 4.9 2区医学

Cold Spring Harbor perspectives in medicine Pub Date : 2025-12-01 DOI: 10.1101/cshperspect.a041532

Zhaoqi Li, Muhammad Bin Munim, Daniel A Sharygin, Brooke J Bevis, Matthew G Vander Heiden

引用次数: 0

A History of Biosafety: U.S. Perspective. 生物安全的历史：美国视角。

IF 4.9 2区医学

Cold Spring Harbor perspectives in medicine Pub Date : 2025-12-01 DOI: 10.1101/cshperspect.a041625

Robert J Hawley, Joseph P Kozlovac

{"title":"A History of Biosafety: U.S. Perspective.","authors":"Robert J Hawley, Joseph P Kozlovac","doi":"10.1101/cshperspect.a041625","DOIUrl":"10.1101/cshperspect.a041625","url":null,"abstract":"Over the past thousand years, one can observe a preponderance of evidence demonstrating the emergence and application of safety principles progressing from a crude beginning to the modern era in all human accomplishments. For more than a thousand years, we have seen evidence of the application of safety principles, albeit primitive compared to those of today, for a reasonable approach to accomplish a task. The limited knowledge available in the past, along with a comparative lack of resources, did not deter these early investigators from adapting their thought processes to create solutions to the problems of their day. Notwithstanding their limited knowledge and lack of resources, these early investigators were able to apply their thought processes to reach a goal. Collectively, their practices, experimental results, and findings provided the foundation for the evolution of the disciplines of microbiology, epidemiology, public health, and safety, and eventually biosafety. Many contributions were made in decontamination methodologies and technologies and the use of protective clothing, engineering controls, vaccine development, food preservation, infection control, aseptic practices, and containment. It is wonderful to learn what germs have taught us! This paper provides an overview of historical safety and biosafety events and how they have both influenced and contributed to the development of modern principles and practices.","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":" ","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12667394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143986891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Animal Models of Parkinson's Disease. 帕金森病的动物模型。

IF 4.9 2区医学

Cold Spring Harbor perspectives in medicine Pub Date : 2025-12-01 DOI: 10.1101/cshperspect.a041644

Valina L Dawson, Ted M Dawson

{"title":"Animal Models of Parkinson's Disease.","authors":"Valina L Dawson, Ted M Dawson","doi":"10.1101/cshperspect.a041644","DOIUrl":"10.1101/cshperspect.a041644","url":null,"abstract":"Parkinson's disease (PD) is a complex genetic disorder that is associated with environmental risk factors and aging. Vertebrate genetic models, especially in mice, has aided the study of autosomal-dominant and autosomal-recessive PD. Mice are capable of exhibiting a broad range of phenotypes and coupled with their conserved genetic and anatomical structures provides unparalleled molecular and pathological tool to model human disease. These models used in combination with aging and PD-associated toxins have expanded our understanding of PD pathogenesis. Attempts to refine PD animal models using conditional approaches have yielded in vivo nigrostriatal degeneration that is instructive in ordering pathogenic signaling and in developing therapeutic strategies to cure or halt the disease. α-Synuclein preformed fibril (PFF) injections, which induce the aggregation of endogenous α-synuclein, remarkably recapitulate pathological processes observed in human PD. Here, we provide an overview of the generation and characterization of transgenic and knockout mice and the α-synuclein PFF models used to study PD followed by molecular insights that have been gleamed these PD mouse models.","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":" ","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12667399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145124474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cancer Metabolism: Historical Landmarks, New Concepts, and Opportunities. 癌症代谢：历史里程碑、新概念和新机遇》（Cancer Metabolism: Historical Landmarks, New Concepts, and Opportunities）。

IF 4.9 2区医学

Cold Spring Harbor perspectives in medicine Pub Date : 2025-12-01 DOI: 10.1101/cshperspect.a041814

Navdeep S Chandel, Karen H Vousden, Ralph J DeBerardinis

引用次数: 0

Threats from the Fungal Kingdom. 来自真菌王国的威胁。

IF 4.9 2区医学

Cold Spring Harbor perspectives in medicine Pub Date : 2025-11-03 DOI: 10.1101/cshperspect.a041630

Arturo Casadevall

引用次数: 0

Pathophysiology of Motor Control Abnormalities in Parkinson's Disease. 帕金森病运动控制异常的病理生理学研究。

IF 4.9 2区医学

Cold Spring Harbor perspectives in medicine Pub Date : 2025-11-03 DOI: 10.1101/cshperspect.a041616

Thomas Wichmann

引用次数: 0

Addendum to Dopamine Cell-Based Replacement Therapies. 多巴胺细胞替代疗法附录。

IF 4.9 2区医学

Cold Spring Harbor perspectives in medicine Pub Date : 2025-11-03 DOI: 10.1101/cshperspect.a041945

Saeed Kayhanian, Roger A Barker

引用次数: 0

Epitope Hierarchy in Type 1 Diabetes Pathogenesis. 1 型糖尿病发病机制中的表位层次。

IF 4.9 2区医学

Cold Spring Harbor perspectives in medicine Pub Date : 2025-11-03 DOI: 10.1101/cshperspect.a041594

Thomas Delong, Maki Nakayama

{"title":"Epitope Hierarchy in Type 1 Diabetes Pathogenesis.","authors":"Thomas Delong, Maki Nakayama","doi":"10.1101/cshperspect.a041594","DOIUrl":"10.1101/cshperspect.a041594","url":null,"abstract":"Type 1 diabetes (T1D) is an autoimmune disease mediated by T cells destroying insulin-producing β cells. Identifying the antigenic epitopes targeted by autoreactive T cells is crucial for understanding pathogenesis, detecting biomarkers, and developing immunotherapies. This paper covers T-cell epitopes in T1D, focusing on pre-proinsulin and hybrid insulin peptides (HIPs) as major autoantigens. Substantial evidence highlights epitopes in the insulin B-chain and C-peptide as dominant targets for pathogenic CD4 and CD8 T cells infiltrating the islets. HIPs, formed by proinsulin fragments ligated to other peptides, constitute a novel class of epitopes detected in human and mouse islets. In addition, the paper also examines neoepitopes arising from posttranslational modifications, splice variants, and defective ribosomal products. A key challenge is differentiating genuinely pathogenic epitopes driving disease from nonpathogenic mimotopes. Identifying any essential, indispensable epitopes among this array could enable the development of antigen-specific immunotherapies targeting the root causative factors underlying T1D.","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":" ","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12588087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic Predisposition to Hematologic Malignancies. 血液恶性肿瘤的遗传易感性。

IF 4.9 2区医学

Cold Spring Harbor perspectives in medicine Pub Date : 2025-10-01 DOI: 10.1101/cshperspect.a041585

Kayla V Hamilton, Akiko Shimamura, Jessica A Pollard

{"title":"Genetic Predisposition to Hematologic Malignancies.","authors":"Kayla V Hamilton, Akiko Shimamura, Jessica A Pollard","doi":"10.1101/cshperspect.a041585","DOIUrl":"10.1101/cshperspect.a041585","url":null,"abstract":"Hematologic malignancies (HMs) have been increasingly recognized in association with an underlying genetic predisposition syndrome (GPS) in individuals of all ages. It is critical for hematology and oncology providers to be aware of the diagnostic findings, physical examination findings, and aspects of family history that raise suspicion for an underlying GPS. Moreover, recognition of how somatic gene panel testing, frequently done at the time of HM diagnosis, may raise suspicion for an underlying germline condition based on the mutation profile reported, is prudent. With knowledge of an underlying germline condition, the chemotherapy used for a given HM may be impacted and the role of hematopoietic stem cell transplant more critically considered. Off-therapy monitoring after HM treatment is completed will also likely be impacted. In this work, we review key features of several GPSs associated with increased risks for HM while also outlining the diagnostic workup to identify GPSs and treatment considerations for affected patients. Armed with this knowledge, treating providers may evaluate the possibility of a GPS in patients with leukemia/lymphoma and modify their treatment plan accordingly.","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":" ","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12335613/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0