Association Between Genetic Variations of Apo AI-CIII-AIV Cluster Gene and Hypertriglyceridemic Subjects (Molecular Pathology and Genetics)

Association Between Genetic Variations of Apo AI-CIII-AIV Cluster Gene and Hypertriglyceridemic Subjects (Molecular Pathology and Genetics)

Rather than single gene defect, impaired functions in two or more of the many genes that control lipid transport and metabolism have been suspected to cause inherited lipoprotein disorders or atherosclerosis. The apolipoprotein (apo) AI-CIII-AIV cluster gene is one of such groups. (5) The products of apo AI, CIII, and AIV genes, together with apo […]

Gene Expression-Based Prognostic and Predictive Markers for Breast Cancer: A Primer for Practicing Pathologists (Report)

Gene Expression-Based Prognostic and Predictive Markers for Breast Cancer: A Primer for Practicing Pathologists (Report)

CLINICAL BACKGROUND The identification of molecular markers with prognostic significance may help cancer patients avoid treatment that is unlikely to be successful. In breast cancer, for example, clinical studies have shown that adding adjuvant chemotherapy to tamoxifen in the treatment of node-negative, hormone receptor (HR)-positive breast cancer improves disease outcome. (1) However, treatment with tamoxifen […]

Acoustic Analysis of Voice and Speech Characteristics in Presymptomatic Gene Carriers of Huntington's Disease: Biomarkers for Preclinical Sign Onset?(Report)

Acoustic Analysis of Voice and Speech Characteristics in Presymptomatic Gene Carriers of Huntington’s Disease: Biomarkers for Preclinical Sign Onset?(Report)

Purpose: The study compared presymptomatic carriers of expanded CAG repeat in the huntingtin gene with matched control participants to determine whether measures of speech motor variability and timing, already found to be significantly different in manifest Huntington’s disease (HD), are significantly different for individuals at risk for HD. Measures included spectral characteristics of sustained vowel […]

Polymorphic Variants of [[Beta].Sub.1] Adrenergic Receptor Gene (Ser49gly & Arg389gly) in Healthy Tamilian Volunteers (Report)

Polymorphic Variants of [[Beta].Sub.1] Adrenergic Receptor Gene (Ser49gly & Arg389gly) in Healthy Tamilian Volunteers (Report)

The [[beta].sub.1]-adrenergic receptor (ADRB1) belongs to the family of guanine nucleotide binding regulatory protein coupled receptors (GPCRs). ADRB1 is expressed in the heart and mediates the physiological effects of catecholamines like epinephrine and norepinephrine (1). The human [[beta].sub.1]-adrenergic receptor is encoded by an intronless gene with 45 aminoacids located on chromosome10q24-26 (2). Of the 73 […]

Gene Therapy, An Issue of Hematology/Oncology Clinics of North America, E-Book

Gene Therapy, An Issue of Hematology/Oncology Clinics of North America, E-Book

This issue of Hematology/Oncology Clinics will focus on Gene Therapy. Topics include, but are not limited to Historical Perspective and Current Renaissance, Integrating Vectors, Nonintegrating Vectors, Gene Editing, Conditioning Therapies for Autologous HSCT, Approaches to Immunodeficiency, Approaches to Hemoglobinopathy, Approaches to Hemophilia, Hematopoietic Gene Therapies for Neurologic and Metabolic Disease, Gene Therapy Approaches to HIV […]

C677T and AI298C Polymorphisms of the Methylenetetrahydrofolate Reductase Gene: Incidence and Effect of Combined Genotypes on Plasma Fasting and Post-Methionine Load Homocysteine in Vascular Disease (Molecular Diagnostics and Genetics)

C677T and AI298C Polymorphisms of the Methylenetetrahydrofolate Reductase Gene: Incidence and Effect of Combined Genotypes on Plasma Fasting and Post-Methionine Load Homocysteine in Vascular Disease (Molecular Diagnostics and Genetics)

The enzyme methylenetetrahydrofolate reductase (MTHFR;[1] EC 1.5.1.20) plays a critical role in homocysteine metabolism by catalyzing the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the methyl-group donor in the [B.sub.12] dependent remethylation of homocysteine to methionine. Severe deficiency of the MTHFR enzyme leads to homocystinuria, a rare inborn error of metabolism characterized by highly increased blood and […]