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] Influenza Vaccines Delivered in Early Childhood Could Turn Antigenic Sin into Antigenic Blessings
Substantial evidence has accumulated that "original antigenic sin" is a central factor shaping immune responses against influenza viruses. Here, we argue that this propensity of initial influenza virus exposure to establish a lifelong immunological imprint presents a remarkable opportunity: Immunization of infants prior to their initial, natural viral exposure could circumvent narrow immunological imprinting directed toward a single viral strain. Simultaneous initial exposure to antigens from multiple influenza strains via vaccination holds the promise of extending immunological imprinting across all currently circulating ...
Source: Cold Spring Harbor perspectives in medicine - September 30, 2020 Category: Research Authors: Worobey, M., Plotkin, S., Hensley, S. E. Tags: Influenza: The Cutting Edge PERSPECTIVES Source Type: research

[PERSPECTIVES] The Etiology and Impact of Muscle Wasting in Metastatic Cancer
Metastasis arises when cancer cells disseminate from their site of origin and invade distant organs. While cancer cells rarely colonize muscle, they often induce a debilitating muscle-wasting condition known as cachexia that compromises feeding, breathing, and cardiac function in metastatic cancer patients. In fact, nearly 80% of metastatic cancer patients experience a spectrum of muscle-wasting states, which deteriorates the quality of life and overall survival of cancer patients. Muscle wasting in cancer results from increased muscle catabolism induced by circulating tumor factors and a systemic metabolic dysfunction. In...
Source: Cold Spring Harbor perspectives in medicine - September 30, 2020 Category: Research Authors: Biswas, A. K., Acharyya, S. Tags: Metastasis: Mechanism to Therapy PERSPECTIVES Source Type: research

[PERSPECTIVES] Bone Tropism in Cancer Metastases
Bone is a frequent site of metastases in many cancers. Both bone properties and the tumor-intrinsic traits are associated with the metastatic propensity to bone (i.e., the bone tropism). Whereas an increasing body of mechanistic studies expanded our understanding on bone tropism, they also revealed complexity across the bone lesions originated from different cancer types. In this review, we will discuss the physical, chemical, and biological properties of bone microenvironment, identify potential players in every stage of bone metastases, and introduce some of the known mechanisms regulating the bone colonization. Our obje...
Source: Cold Spring Harbor perspectives in medicine - September 30, 2020 Category: Research Authors: Wang, H., Zhang, W., Bado, I., Zhang, X. H.- F. Tags: Metastasis: Mechanism to Therapy PERSPECTIVES Source Type: research

[PERSPECTIVES] Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders
Screening and diagnostic testing for single-gene disorders and common syndromes in the pediatric setting frequently generate data that are challenging to interpret, and the ability to diagnose genetic conditions has outpaced the development of successful treatments or cures. Genetic testing is now integrated purposefully into a variety of primary and specialty care clinics, creating an increased requirement for genetic literacy among providers and patients, as well as a growing need to incorporate genetic counseling services into mainstream clinical practice. The practice of pediatric genetic counseling encompasses a uniqu...
Source: Cold Spring Harbor perspectives in medicine - September 30, 2020 Category: Research Authors: McGlynn, J. A., Langfelder-Schwind, E. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] Evolving Roles of Genetic Counselors in the Clinical Laboratory
Genetic counselors (GCs) possess several core competencies that provide direct benefit in the clinical laboratory setting. Communication with clients about complex information such as test methodology or results and the skills of facilitation and translation of complex information were recognized as important skills early in the establishment of GCs in laboratories. The clinical expertise of GCs serves as the background and experience from which they facilitate complex laboratory cases. Early roles for GCs in the laboratory also included result reporting, case management, and test development. The scope of roles has broade...
Source: Cold Spring Harbor perspectives in medicine - September 30, 2020 Category: Research Authors: Cho, M. T., Guy, C. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] PTEN in Regulating Hematopoiesis and Leukemogenesis
PTEN is one of the most frequently mutated tumor suppressor genes in human cancers. By counteracting the PI3K/AKT/mTOR pathway, PTEN plays an essential role in regulating hematopoietic stem cells (HSCs) self-renewal, migration, lineage commitment, and differentiation. PTEN also plays important roles in suppressing leukemogenesis, especially T-cell acute lymphoblastic leukemia (T-ALL). Herein, we will review the function of PTEN in regulating hematopoiesis and leukemogenesis and discuss potential therapeutic approaches against leukemia with PTEN mutations. (Source: Cold Spring Harbor perspectives in medicine)
Source: Cold Spring Harbor perspectives in medicine - September 30, 2020 Category: Research Authors: Wu, Y., Zhu, H., Wu, H. Tags: The PTEN Family PERSPECTIVES Source Type: research

[PERSPECTIVES] PTEN: Bridging Endocytosis and Signaling
The transduction of signals in the PTEN/PI3-kinase (PI3K) pathway is built around a phosphoinositide (PIP) lipid messenger, phosphatidylinositol trisphosphate, PI(3,4,5)P3 or PIP3. Another, more ancient role of this family of messengers is the control of endocytosis, where a handful of separate PIPs act like postal codes. Prominent among them is PI(3)P, which helps to ensure that endocytic vesicles, their cargo, and membranes themselves reach their correct destinations. Traditionally, the cancer and the endocytic functions of the PI3K signaling pathway have been studied by cancer and membrane biologists, respectively, with...
Source: Cold Spring Harbor perspectives in medicine - September 30, 2020 Category: Research Authors: Lee, M. F., Trotman, L. C. Tags: The PTEN Family PERSPECTIVES Source Type: research

[PERSPECTIVES] Structure and Function of the Influenza Virus Transcription and Replication Machinery
Transcription and replication of the influenza virus RNA genome is catalyzed by the viral heterotrimeric RNA-dependent RNA polymerase in the context of viral ribonucleoprotein (vRNP) complexes. Atomic resolution structures of the viral RNA synthesis machinery have offered insights into the initiation mechanisms of viral transcription and genome replication, and the interaction of the viral RNA polymerase with host RNA polymerase II, which is required for the initiation of viral transcription. Replication of the viral RNA genome by the viral RNA polymerase depends on host ANP32A, and host-specific sequence differences in AN...
Source: Cold Spring Harbor perspectives in medicine - August 31, 2020 Category: Research Authors: Fodor, E., te Velthuis, A. J. W. Tags: Influenza: The Cutting Edge PERSPECTIVES Source Type: research

[PERSPECTIVES] Normal Aging and Its Role in Cancer Metastasis
Metastasis is the most common cause of death, with treatments failing to provide a durable response. Aging is a key prognostic factor in many cancers. Emerging data suggest that normal age-related changes in the tumor microenvironment can contribute to metastatic progression. These changes encompass secreted factors, biophysical changes, and changes in both stromal and immune cell populations. These data also highlight the importance of conducting studies in preclinical models of appropriate age. Ultimately, therapies may also need to be tailored to reflect patient age, as markers of metastatic disease differ in young and ...
Source: Cold Spring Harbor perspectives in medicine - August 31, 2020 Category: Research Authors: Fane, M., Weeraratna, A. T. Tags: Metastasis: Mechanism to Therapy PERSPECTIVES Source Type: research

[PERSPECTIVES] Control of HCV Infection by Natural Killer Cells and Macrophages
Host defense against invading pathogens within the liver is dominated by innate immunity. Natural killer (NK) cells have been implicated at all stages of hepatitis C virus (HCV) infection, from providing innate protection to contributing to treatment-induced clearance. Decreased NK cell levels, altered NK cell subset distribution, activation marker expression, and functional polarization toward a cytolytic phenotype are hallmarks of chronic HCV infection. Interferon α (IFN-α) is a potent activator of NK cells; therefore, it is not surprising that NK cell activation has been identified as a key factor associated...
Source: Cold Spring Harbor perspectives in medicine - August 31, 2020 Category: Research Authors: Rosen, H. R., Golden-Mason, L. Tags: Hepatitis C Virus: The Story of a Scientific and Therapeutic Revolution PERSPECTIVES Source Type: research

[PERSPECTIVES] Impact of Immunometabolism on Cancer Metastasis: A Focus on T Cells and Macrophages
Despite improved treatment options, cancer remains the leading cause of morbidity and mortality worldwide, with 90% of this mortality correlated to the development of metastasis. Since metastasis has such an impact on treatment success, disease outcome, and global health, it is important to understand the different steps and factors playing key roles in this process, how these factors relate to immune cell function and how we can target metabolic processes at different steps of metastasis in order to improve cancer treatment and patient prognosis. Recent insights in immunometabolism direct to promising therapeutic targets ...
Source: Cold Spring Harbor perspectives in medicine - August 31, 2020 Category: Research Authors: Flerin, N. C., Pinioti, S., Menga, A., Castegna, A., Mazzone, M. Tags: Metastasis: Mechanism to Therapy PERSPECTIVES Source Type: research

[TECHNIQUE] Connecting Genotype with Behavioral Phenotype in Mouse Models of Autism Associated with PTEN Mutations
A subset of individuals with autism spectrum disorder (ASD) and macrocephaly carry mutations in the gene PTEN. Animal models, particularly mice, have been helpful in establishing a causal role for Pten mutations in autism-relevant behavioral deficits. These models are a useful tool for investigating neurobiological mechanisms of these behavioral phenotypes and developing potential therapeutic interventions. Here we provide an overview of various genetic mouse models that have been used to characterize behavioral phenotypes caused by perturbation of Pten. We discuss convergent and divergent phenotypes across models with the...
Source: Cold Spring Harbor perspectives in medicine - August 31, 2020 Category: Research Authors: Clipperton-Allen, A. E., Page, D. T. Tags: The PTEN Family TECHNIQUE Source Type: research

[PERSPECTIVES] Genetic Counseling, Personalized Medicine, and Precision Health
Millions of individuals in the United States will have their exomes and genomes sequenced over the next 5 years as the use of genomic sequencing technologies in clinical care grows and as initiatives in personalized medicine and precision health move forward. As a result, we will see a shift away from the patient population of early adopters who pursued direct-to-consumer (DTC) testing and paid thousands of dollars to get their genomes sequenced and toward a different and more diverse set of test takers. Early data suggest that these individuals will have different motivations for pursuing genomic sequencing and will be le...
Source: Cold Spring Harbor perspectives in medicine - August 31, 2020 Category: Research Authors: Ramos, E. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] Psychological Issues in Managing Families with Inherited Cardiovascular Diseases
The field of cardiovascular genetic counseling has evolved dramatically in recent years largely to manage the unique psychological needs of the inherited cardiovascular disease patient population. For many, there can be difficulty in coming to terms with a diagnosis, whether it be adjusting to lifestyle recommendations such as exclusion from competitive sports or living with a small but remarkable risk of sudden cardiac death. For those considered at risk of life-threatening ventricular arrhythmias, the decision to have an implantable cardioverter defibrillator can be difficult. Living with the device, especially for those...
Source: Cold Spring Harbor perspectives in medicine - August 31, 2020 Category: Research Authors: Ingles, J. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] PTEN as a Guardian of the Genome: Pathways and Targets
Faithful transmission of genetic information is only possible with the structural and functional integrity of the genome. PTEN has been recognized as a guardian of the genome since the identification of its noncanonical localization and function in the nucleus. Yet, the role of PTEN in guarding the genome relies on integration of diverse mechanisms elicited by its canonical activity in antagonizing PI3K as well as emerging noncanonical functions. In the nucleus, PTEN maintains the structural integrity of chromosomes and the architecture of heterochromatin by physically interacting with chromosomal and nucleosomal component...
Source: Cold Spring Harbor perspectives in medicine - August 31, 2020 Category: Research Authors: Fan, X., Kraynak, J., Knisely, J. P. S., Formenti, S. C., Shen, W. H. Tags: The PTEN Family PERSPECTIVES Source Type: research