Cold Spring Harbor perspectives in medicine This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

[PERSPECTIVES] Dormancy in Breast Cancer
The pattern of delayed recurrence in a subset of breast cancer patients has long been explained by a model that incorporates a variable period of cellular or tumor mass dormancy prior to disease relapse. In this review, we critically evaluate existing data to develop a framework for inferring the existence of dormancy in clinical contexts of breast cancer. We integrate these clinical data with rapidly evolving mechanistic insights into breast cancer dormancy derived from a broad array of genetically engineered mouse models as well as experimental models of metastasis. Finally, we propose actionable interventions and discus...
Source: Cold Spring Harbor perspectives in medicine - November 1, 2023 Category: Research Authors: Dalla, E., Sreekumar, A., Aguirre-Ghiso, J. A., Chodosh, L. A. Tags: Breast Cancer: From Fundamental Biology to Therapeutic Strategies PERSPECTIVES Source Type: research

[PERSPECTIVES] Mechanisms of Organ-Specific Metastasis of Breast Cancer
Cancer metastasis, or the development of secondary tumors in distant tissues, accounts for the vast majority of fatalities in patients with breast cancer. Breast cancer cells show a striking proclivity to metastasize to distinct organs, specifically the lung, liver, bone, and brain, where they face unique environmental pressures and a wide variety of tissue-resident cells that together create a strong barrier for tumor survival and growth. As a consequence, successful metastatic colonization is critically dependent on reciprocal cross talk between cancer cells and host cells within the target organ, a relationship that sha...
Source: Cold Spring Harbor perspectives in medicine - November 1, 2023 Category: Research Authors: Nolan, E., Kang, Y., Malanchi, I. Tags: Breast Cancer: From Fundamental Biology to Therapeutic Strategies PERSPECTIVES Source Type: research

[PERSPECTIVES] Cell-Based Therapies: Strategies for Regeneration
The neural retina of mammals, like most of the rest of the central nervous system, does not regenerate new neurons after they are lost through damage or disease. The ability of nonmammalian vertebrates, like fish and amphibians, is remarkable, and lessons learned over the last 20 years have revealed some of the mechanisms underlying this potential. This knowledge has recently been applied to mammals to develop methods that can stimulate regeneration in mice. In this review, we highlight the progress in this area, and propose a "wish list" of how the clinical implementation of regenerative strategies could be applicable to ...
Source: Cold Spring Harbor perspectives in medicine - November 1, 2023 Category: Research Authors: Pavlou, M., Reh, T. A. Tags: Retinal Disorders: Genetic Approaches to Diagnosis and Treatment PERSPECTIVES Source Type: research

[PERSPECTIVES] RPGR-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy
Retinitis pigmentosa GTPase regulator (RPGR) gene variants are the predominant cause of X-linked retinitis pigmentosa (XLRP) and a common cause of cone-rod dystrophy (CORD). XLRP presents as early as the first decade of life, with impaired night vision and constriction of peripheral visual field and rapid progression, eventually leading to blindness. In this review, we present RPGR gene structure and function, molecular genetics, animal models, RPGR-associated phenotypes and highlight emerging potential treatments such as gene-replacement therapy. (Source: Cold Spring Harbor perspectives in medicine)
Source: Cold Spring Harbor perspectives in medicine - November 1, 2023 Category: Research Authors: Awadh Hashem, S., Georgiou, M., Ali, R. R., Michaelides, M. Tags: Retinal Disorders: Genetic Approaches to Diagnosis and Treatment PERSPECTIVES Source Type: research

[PERSPECTIVES] The Breast Cancer Proteome and Precision Oncology
The goal of precision oncology is to translate the molecular features of cancer into predictive and prognostic tests that can be used to individualize treatment leading to improved outcomes and decreased toxicity. Success for this strategy in breast cancer is exemplified by efficacy of trastuzumab in tumors overexpressing ERBB2 and endocrine therapy for tumors that are estrogen receptor positive. However, other effective treatments, including chemotherapy, immune checkpoint inhibitors, and CDK4/6 inhibitors are not associated with strong predictive biomarkers. Proteomics promises another tier of information that, when adde...
Source: Cold Spring Harbor perspectives in medicine - October 3, 2023 Category: Research Authors: Lei, J. T., Jaehnig, E. J., Smith, H., Holt, M. V., Li, X., Anurag, M., Ellis, M. J., Mills, G. B., Zhang, B., Labrie, M. Tags: Breast Cancer: From Fundamental Biology to Therapeutic Strategies PERSPECTIVES Source Type: research

[PERSPECTIVES] Human Ductal Carcinoma In Situ: Advances and Future Perspectives
Due to widespread adoption of screening mammography, there has been a significant increase in new diagnoses of ductal carcinoma in situ (DCIS). However, DCIS outcomes remain unclear. A large fraction of human DCIS (>50%) may not need the multimodality treatment options currently offered to all DCIS patients. More importantly, while we may be overtreating many, we cannot identify those most at risk of invasion or metastasis following a DCIS diagnosis. This review summarizes the studies that have furthered our understanding of DCIS pathology and mechanisms of invasive progression by using advanced technologies including s...
Source: Cold Spring Harbor perspectives in medicine - October 3, 2023 Category: Research Authors: Behbod, F., Chen, J. H., Thompson, A. Tags: Breast Cancer: From Fundamental Biology to Therapeutic Strategies PERSPECTIVES Source Type: research

[PERSPECTIVES] The Emerging Role of the Single-Cell and Spatial Tumor Microenvironment in High-Grade Serous Ovarian Cancer
The development of single-cell and spatial technologies has enabled a more detailed understanding of the tumor microenvironment and its role in therapy response and clinical outcome of high-grade serous ovarian cancer (HGSC). Interestingly, emerging evidence suggests that HGSCs with different genetic drivers harbor distinct tumor-immune microenvironments. Further, spatial cell–cell interactions have been shown to shape the CD8+ T-cell phenotypes and responses to immune checkpoint blockade therapies. The heterogeneous stroma consisting of cancer-associated fibroblast (CAF) subtypes, endothelia, and site-specific strom...
Source: Cold Spring Harbor perspectives in medicine - October 3, 2023 Category: Research Authors: Launonen, I.-M., Vähärautio, A., Färkkilä, A. Tags: Ovarian Cancer PERSPECTIVES Source Type: research

[PERSPECTIVES] Alternative RNA Splicing in the Retina: Insights and Perspectives
Alternative splicing is a fundamental and highly regulated post-transcriptional process that enhances transcriptome and proteome diversity. This process is particularly important in neuronal tissues, such as the retina, which exhibit some of the highest levels of differentially spliced genes in the body. Alternative splicing is regulated both temporally and spatially during neuronal development, can be cell-type-specific, and when altered can cause a number of pathologies, including retinal degeneration. Advancements in high-throughput sequencing technologies have facilitated investigations of the alternative splicing land...
Source: Cold Spring Harbor perspectives in medicine - October 3, 2023 Category: Research Authors: Keuthan, C. J., Karma, S., Zack, D. J. Tags: Retinal Disorders: Genetic Approaches to Diagnosis and Treatment PERSPECTIVES Source Type: research

[PERSPECTIVES] The Role of the National Institute on Aging in the Development of the Field of Geroscience
The conceptualization of the field of geroscience, which began about 10 years ago, marks, together with the publication of "The hallmarks of aging" (see López-Otín C, Blasco MA, Partridge L, Serrano M, Kroemer G. Cell 153: 1194–1217, 2013), a significant watershed in the development of aging research. Based on a very simple and commonly accepted premise, namely, that aging biology is at the core the most significant risk factor for all chronic diseases affecting the elderly, geroscience became possible because of earlier significant developments in the field of aging biology. Here we describe the origin...
Source: Cold Spring Harbor perspectives in medicine - October 3, 2023 Category: Research Authors: Sierra, F., Kohanski, R. A. Tags: Aging PERSPECTIVES Source Type: research

[PERSPECTIVES] Epidemiology and Risk Factors for Breast Cancer: 21st Century Advances, Gaps to Address through Interdisciplinary Science
Research methods to study risk factors and prevention of breast cancer have evolved rapidly. We focus on advances from epidemiologic studies reported over the past two decades addressing scientific discoveries, as well as their clinical and public health translation for breast cancer risk reduction. In addition to reviewing methodology advances such as widespread assessment of mammographic density and Mendelian randomization, we summarize the recent evidence with a focus on the timing of exposure and windows of susceptibility. We summarize the implications of the new evidence for application in risk stratification models a...
Source: Cold Spring Harbor perspectives in medicine - September 1, 2023 Category: Research Authors: Terry, M. B., Colditz, G. A. Tags: Breast Cancer: From Fundamental Biology to Therapeutic Strategies PERSPECTIVES Source Type: research

[PERSPECTIVES] X-Linked Retinoschisis
X-linked retinoschisis (XLRS) is an inherited vitreoretinal dystrophy causing visual impairment in males starting at a young age with an estimated prevalence of 1:5000 to 1:25,000. The condition was first observed in two affected brothers by Josef Haas in 1898 and is clinically diagnosed by characteristic intraretinal cysts arranged in a petaloid "spoke-wheel" pattern centered in the macula. When clinical electroretinogram (ERG) testing began in the 1960s, XLRS was noted to have a characteristic reduction of the dark-adapted b-wave amplitude despite normal or usually nearly normal a-wave amplitudes, which became known as t...
Source: Cold Spring Harbor perspectives in medicine - September 1, 2023 Category: Research Authors: Ku, C. A., Wei, L. W., Sieving, P. A. Tags: Retinal Disorders: Genetic Approaches to Diagnosis and Treatment PERSPECTIVES Source Type: research

[PERSPECTIVES] Discovering Biological Mechanisms of Exceptional Human Health Span and Life Span
Humans age at different rates and families with exceptional longevity provide an opportunity to understand why some people age slower than others. Unique features exhibited by centenarians include a family history of extended life span, compression of morbidity with resultant extension of health span, and longevity-associated biomarker profiles. These biomarkers, including low-circulating insulin-like growth factor 1 (IGF-1) and elevated high-density lipoprotein (HDL) cholesterol levels, are associated with functional genotypes that are enriched in centenarians, suggesting that they may be causative for longevity. While no...
Source: Cold Spring Harbor perspectives in medicine - September 1, 2023 Category: Research Authors: Milman, S., Barzilai, N. Tags: Aging PERSPECTIVES Source Type: research

[PERSPECTIVES] Modeling Brain Vasculature Immune Interactions In Vitro
The endothelial blood–brain barrier (BBB) protects central nervous system (CNS) neurons from the changeable milieu of the bloodstream by strictly controlling the movement of molecules and immune cells between the blood and the CNS. Immune cell migration across the vascular wall is a multistep process regulated by the sequential interaction of different signaling and adhesion molecules on the endothelium and the immune cells. Accounting for its unique barrier properties and trafficking molecule expression profile, particular adaptions in immune cell migration across the BBB have been observed. Thus, in vitro models of...
Source: Cold Spring Harbor perspectives in medicine - September 1, 2023 Category: Research Authors: Lyck, R., Nishihara, H., Aydin, S., Soldati, S., Engelhardt, B. Tags: Angiogenesis PERSPECTIVES Source Type: research

[PERSPECTIVES] Rare Epithelial Ovarian Cancers: Low Grade Serous and Mucinous Carcinomas
The ovarian epithelial cancer histotypes can be divided into common and rare types. Common types include high-grade serous ovarian carcinomas and the endometriosis-associated cancers, endometrioid and clear-cell carcinomas. The less common histotypes are mucinous and low-grade serous, each comprising less than 10% of all epithelial carcinomas. Although histologically and epidemiologically distinct from each other, these histotypes share some genetic and natural history features that distinguish them from the more common types. In this review, we will consider the similarities and differences of these rare histological type...
Source: Cold Spring Harbor perspectives in medicine - September 1, 2023 Category: Research Authors: Craig, O., Nigam, A., Dall, G. V., Gorringe, K. Tags: Ovarian Cancer PERSPECTIVES Source Type: research

[PERSPECTIVES] Electronic Retinal Prostheses
Retinal prostheses are a promising means for restoring sight to patients blinded by photoreceptor atrophy. They introduce visual information by electrical stimulation of the surviving inner retinal neurons. Subretinal implants target the graded-response secondary neurons, primarily the bipolar cells, which then transfer the information to the ganglion cells via the retinal neural network. Therefore, many features of natural retinal signal processing can be preserved in this approach if the inner retinal network is retained. Epiretinal implants stimulate primarily the ganglion cells, and hence should encode the visual infor...
Source: Cold Spring Harbor perspectives in medicine - August 1, 2023 Category: Research Authors: Palanker, D. Tags: Retinal Disorders: Genetic Approaches to Diagnosis and Treatment PERSPECTIVES Source Type: research