Mucin 1 (MUC1) is a plasma membrane-bound glycoprotein that plays a protective role in corneal epithelial cells. Two full-length splice variants of MUCl: MUCl/B and MUCl/A, that differ by the inclusion of 27 bp from intron 1 and a SNP in MUCl/A,...
Night vision--Genetic aspects; Vision disorders--Genetic aspects
Mutations in the NYX gene, encoding the novel protein nyctalopin, cause human congenital stationary night blindness type 1 (CSNB1). CSNB1 is an X-linked recessive condition and is identified by a loss of the electroretinogram (ERG) b-wave while the...
Embryonic development requires the orchestration of temporally precise genetic events that culminate in the formation of a complete organism. The molecular mechanisms responsible for ontogenesis are regulated by environmental and somatic factors in...
For more than a hundred million years, male plethodontid salamanders have
utilized non-volatile, proteinaceous courtship pheromones to regulate female mating
receptivity and promote mating success. These pheromones - which are delivered...
High-throughput sequencing has provided a myriad of genetic data for thousands of organisms. Computational analysis of one data type, expressed sequence tags (ESTs) yields insight into gene expression, alternative splicing, tissue specificity gene...
Congenital stationary night blindness 1 (CSNBl) is a genetic disorder characterized in humans by night blindness, low visual acuity and myopia. CSNB 1 is caused by defects in genes that are involved in signaling between photoreceptors and...
N-acetyltransferase 1 (NAT1) is a phase II metabolic enzyme responsible for the biotransformation of aromatic and heterocyclic amine carcinogens such as 4-aminobiphenyl (ASP). NAT1 catalyzes N-acetylation of arylamines as well as the 0-acetylation...
T lymphopoiesis has been an intense focus of immunological research since the discovery of the major histocompatibility complex (MHC) and T cell mediated transplant rejection. Additionally, researchers have long appreciated the role of T cells, and...
Recent advances in understanding the molecular mechanisms of mutagenesis indicate that most mutations are dependent on the activity of translesion synthesis DNA polymerases. The impact of reducing the level of these polymerases on mutagenesis and...
The inherited bone marrow failure syndromes (IBMFS) encompass a heterogeneous collection of rare disorders characterized by hematological abnormalities, generalized growth delays, and an increased incidence of malignant transformation. These...
Current high-throughput gene expression experiments have a straightforward design of examining
the gene expression of one group or condition relative to that of another. The data is typically
analyzed as if they represent strictly intracellular...
The mechanisms by which estrogens regulate mitochondrial activity are not completely understood. Chronic treatment of ovariectomized rats with estradiol (E 2 ) increased the amount of Nuclear Respiratory Factor-1 (NRF-1) protein in cerebral blood...
Planar fiber-optic chips (FOC) take advantage of the evanescent field effects of side-polished fibers, exhibiting usefulness in fluorescence, absorbance, electrochemical investigations, and as presented here Raman spectroscopy. The fabrication of...
Arylamine N-acetyltransferase 1 (NAT1) and 2 (NAT2) catalyze the detoxification and/or activation of aromatic and heterocyclic amine carcinogens by two pathways. This metabolism reaction can lead to the detoxification by Nacetylation, or...
Prostate cancer (PCA) development may be influenced by genetic variations within oxidative stress response (OSR) related mechanisms, such as antioxidation (e.g.,
carcinogen metabolism/detoxification), DNA repair, and apoptotic regulation. Excessive...
In the age of high-throughput molecular biology techniques, scientists have incorporated the methodology of in-situ hybridization to map spatial patterns of gene expression. In order to compare expression patterns within a common tissue structure,...
Unrepaired DNA damage poses a serious threat to the genetic stability of a replicating cell. One mechanism of tolerating this damage is translesion DNA synthesis (TLS), in which an accessory polymerase synthesizes DNA directly across from a damaged...
A k-term quasi-progression of diameter d is a sequence {Xl,... ,xk} for which there exists a positive integer l such that l < Xi-Xi-1 < l+d, for all i = 2, ... ,k. Quasi-progressions may be thought of as arithmetic progressions with a certain...
Introduction: Hyperhomocysteinemia (HHcy) is a pathological condition characterized by excessive levels of plasma homocysteine (Hcy). Patients with HHcy are reported to be at risk for arrhythmias like atrial fibrillation and sudden cardiac death...
Bcl-2 proteins are major regulators of cellular responses to various apoptotic stimuli. Among them, overexpression of the anti-apoptotic BcI-2 protein BcI-xL modulates organelle-specific apoptotic pathways. To understand the mechanisms by which...
