Recent years have witnessed an explosion of research on the role of epigenetic modifications, such as DNA methylation and histone protein acetylation and phosphorylation, in neuroscience. These changes exert control over gene expression and have been shown to play important roles in a v ...
High levels of Aβ impair neuronal function at least in part by disrupting normal synaptic transmission and causing dysfunction of neural networks. This network dysfunction includes abnormal synchronization of neuronal activity resulting in epileptiform activity. Over time, t ...
The normal function of neurons depends on the integrity of microtubule-dependent transport of cellular materials and organelles to/from their cell bodies or axon terminus. In this chapter, we describe the design and implementation of a fluorescence imaging method to visualize axonal ...
RNA in situ hybridization is a powerful technique for examining gene expression in specific cell populations. This method is particularly useful in the central nervous system with its high cellular diversity and dynamic gene expression regulation associated with development, pla ...
Mouse models of Alzheimer’s Disease are essential for understanding how pathological cascades alter neural circuitry and eventually disrupt cognitive function. A key prerequisite for the use of such models, therefore, is the ability to accurately and reliably measure cognitive fu ...
Alzheimer’s disease (AD) is the most common neurodegenerative disease and cause of dementia. Significant strides toward understanding and developing therapies for AD have been supported by the use of transgenic mouse models of AD. Over the last two decades, a number of mouse models have been c ...
A primary pathological hallmark of Alzheimer disease brain is the presence of neurofibrillary tangles, which are highly aggregated and insoluble accumulations of the microtubule-associated protein tau. Although it is becoming increasingly apparent that the mature neurofi ...
Allogeneic hematopoietic stem cell transplantation (HSCT) is an effective therapeutic approach for several hematological diseases. Chimerism studies can be helpful to assess donor engraftment, detect early signs of graft rejection, and monitor minimal residual disease. Cu ...
Multiparameter flow cytometry offers the unique ability to simultaneously assess and correlate multiple cellular properties at the single cell level in a timely and efficient manner. Application of this technique to the detection of residual acute leukemia after therapy has been sh ...
Patients with acute myeloid leukemia (AML) and a normal karyotype constitute the single largest cytogenetic group of AML. It is important to identify prognostic markers that predict patients’ outcome more precisely. The presence of mutations in FLT3 (FMS-like tyrosine kinase 3), NPM1 (N ...
Hematologic malignancies often have specific chromosomal translocations that promote cancer initiation and progression. Translocation identification is often vital in the diagnosis, prognosis, and treatment of malignancies. A variety of methods including metaphase c ...
Cytogenetic identification of clonal abnormalities present in leukemia is critical for accurate diagnosis of the disease and determination of specific therapeutic interventions for the patient. Fluorescence in situ hybridization (FISH) studies complement the diagnost ...
The current WHO classification of mastocytosis defines one major and four minor diagnostic criteria for systemic mastocytosis (SM). One of the minor criteria is the detection of the “gain-of-function” mutation D816V of the c-kit proto-oncogene in extracutaneous organs. The receptor m ...
Recently, a point mutation in the JAK2 gene, JAK2 V617F , was discovered in several myeloid proliferative neoplasms including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Demonstration of the mutation and other similar mutations has now b ...
The reciprocal translocation between chromosomes 9 and 22 creates a BCR-ABL1 fusion protein that occurs in approximately 95% of cases of chronic myelogenous leukemia (CML), 15% of cases of adult acute lymphoblastic leukemia, and 5% of adult cases of acute myeloid leukemia. The BCR-ABL1 prote ...
MicroRNAs are small noncoding RNAs which are able to regulate gene expression at both the transcriptional and translational levels. There is a growing recognition of the role of microRNAs in nearly every tissue type and cellular process. Thus there is an increasing need for accurate quantit ...
Pharmacogenetics is the growing field of study of genetic variations underlying interindividual differences in drug response. Inherited polymorphisms in genes coding for drug-metabolizing enzymes, transporters, and targets influence toxicity as well as efficacy associ ...
The reciprocal Philadelphia translocation between chromosomes 9 and 22 creates a BCR-ABL1 fusion protein that occurs in approximately 95% of cases of chronic myelogenous leukemia (CML), 15% of cases of adult acute lymphoblastic leukemia, and 5% of adult cases of acute myeloid leukemia. The B ...
Human cytomegalovirus (CMV), also known as human herpes virus-5 (HHV-5), is a common human pathogen acquired early in life in the majority of immunocompetent individuals. Primary infection establishes a state of latency and the virus can be reactivated during immunosuppression. CMV is a si ...
Kaposi sarcoma herpesvirus/human herpesvirus-8 (KSHV/HHV-8) is etiologically related to the development of several human diseases, including Kaposi sarcoma, primary effusion lymphoma (PEL)/extra-cavitary (EC) PEL, multicentric Castleman disease (MCD), and large B-cell ...