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51 Molecular genetics of the long QT syndromeTo identify genes involved in cardiac arrhythmia, families with autosomal dominant long QT syndrome (LQT) were investigated. LQT is a disorder that predisposes otherwise healthy individuals to syncope, seizures and sudden death from a ventricular tachyarrhythmia, torsade de pointes. In 1991, our lab...Long QT Syndrome; Cardia Myocytes; Mutations1995-12
52 Presynaptic neurons control postsynaptic GABAa receptor trafficking in Caenorhabditis elegansInhibitory neurotransmission is critical for regulating neuronal excitability. The main inhibitory neurotransmitter is gamma-aminobutyric acid (GABA). It acts predominantly at postsynaptic GABA(A) receptors. GABAA receptors are heteropentameric chloride ion channels. Receptor activation results in c...Metabolism; Physiology2005-12
53 Genetic variations in apolipoprotein B and apolipoprotein A-I associated with risk of coronary artery diseaseIncreased plasma concentrations of apolipoprotein B (apoB) and low density lipoproteins (LDL) are directly associated with increased total cholesterol concentrations and increased risk of coronary artery disease (CAD). An inverse association exists between apolipoprotein A-I (apoA-I) and high densit...Genetics; Apolipoproteins1997-12
54 Molecular and cellular mechanisms of zebrafish fin regenerationAccording to the National Center for Medical Rehabilitation Research, each year in the United States more than 100,000 individuals lose a limb due to traumatic injury or disease; 7,800 are paralyzed due to spinal cord injury. It is conceivable that these conditions could be treated by activating the...Cloning; Mid-blastemal2002-08
55 One protein from two open reading frames: mechanism of a 50-nucleotide translational bypassTranslational bypassing joins the information found within two disparate open reading frames into a single polypeptide chain. The mechanism involves three stages: take-off, scanning, and landing. In takeoff, the peptidyl-tRNA-mRNA complex in the P-site of the ribosome dissociates. In scanning, the p...RNA; Proteins2000-05
56 Molecular genetics of the Long QT syndromeLong QT syndrome (LQT) is a cardiovascular disorder that causes syncope, seizures and sudden death. Two forms of inherited LQT have been identified, autosomal dominant and autosomal recessive. The autosomal dominant form is the most common form and is not associated with other known phenotypic abnor...1999-05
57 Genetic mapping and molecular characterization of genes involved in birth defects of the limbsTo improve the understanding of limb development and congenital limb defects, I have studied five disorders: ulnar-mammary syndrome (UMS), camptodactyly with hearing loss (CAHL), distal arthrogryposis type 1 (DA1), distal arthrogryposis type 2 (DA2) and distal arthrogryposis type 2B (DAM). The purpo...Abnormalities; Genetics; Gene Mapping1999
58 Genetic and biochemical basis of familial advanced sleep phase syndrome in a Utah kindreFamilial advanced sleep phase syndrome (FASPS) is an autosomal dominant short-period circadian rhythm variant. The sleep-wake cycles of affected individuals are advanced by 4 hours, a reflection of a reduction in the period (?) of their circadian clocks by approximately 1 hour. This dissertation de...Utah2002-05
59 Diversification of Hox gene function as a consequence of evolution in cis-regulator sequences.Hox genes are recognized for their universal role in patterning the antero-posterior (A-P) axis of metazoan embryos. Hox gene expression along the A-P axis occurs in a colinear fashion that reflects the chromosomal position of each gene, suggesting an evolutionary conservation for the function of Ho...Gene Evolution; Mutation2001-05
60 Determinants of cell fate during zebrafish embryogenesisThe mechanisms underlying how the cells within a vertebrate embryo acquire specific fates are not well understood. From previous studies on zebrafish, two models emerged that describe the cell fate potentials of early cells (blastomeres). In one model, the tissues that will be populated by the desce...Embryology; Genetics1995-03
61 Role of multidrug resistance P-glycoproteins in cholesterol metabolismCellular cholesterol homeostasis is maintained by regulated uptake of LDL-derived cholesterol, biosynthesis of cholesterol, and conversion of cholesterol to cholesteryl esters. Intracellular sterol transport between the plasma membrane and the endoplasmic reticulum (ER) is an important aspect of cho...Metabolsim; Biochemical; Genetic Mapping1999-05
62 Investigating the Cellular Basis of Excessive Grooming Behavior in HoxB8 Mutant MiceExcessive grooming behavior has been reported in Hoxb8 loss-of-function mutants. Since Hoxb8 expresses in various tissues in mice, the cause of the excessive grooming and hair removal phenotype was not clear. In this report we demonstrated that Hoxb8 is expressed in brain microglia hematopoietic ...Grooming Behavior in Animals; Mice; Genetics2010-04-19
63 Kephalaea is a novel modulator of decapentaplegic signaling and defines requirements for signaling during head involution in DrosophilaDorsal closure is the morphogenetic process by which the Drosophila melanogaster embryo becomes completely encased in cuticle-secreting epidermis. Epithelial cells on either side of the embryo spread dorsally and replace the amnioserosa, meeting and fusing along the dorsal midline to create a contin...Cell Junctions; Homologs2001-12
64 Genetics of human methylationA cloned DNA segment 1.25 kilobases upstream from the joining segments of the human heavy chain immunoglobulin gene revealed extensive polymorphic variation at this locus. Sequencing of this segment cloned from twp different individuals showed that the polymorphism is caused by the insertion and del...Genetics; Nucleic Acid; Uterine Neoplasms1989-12
65 Roles of fibroblast growth factors in inner ear developmentUnderstanding the molecular and genetic mechanisms responsible for the development of the vertebrate inner ear, which mediates hearing and equilibrium, is an ongoing quest in developmental biology. Most of the cells found in the sensory tissue of the mature inner ear are derived from an ectodermal p...Inner Ear; Growth and Development2007-08
66 Molecular and genetic characterization of Drosophila nuclear receptorsNuclear receptors (NRs) are a large family of transcription factors that play important roles in development, homeostasis, and disease. NRs can be activated or repressed by hydrophobic ligands and protein cofactors. To determine how, where, and when NRs are likely to function, we used a ligand sen...Insects; Metabolic Pathways; Receptors2007-08
67 Genetic and molecular analysis of gene trap cell lines in the mouseMouse models are extremely useful in studying human deafness syndrome, which is the most common human sensory defect. To identify novel mouse genes that are involved in inner ear development, we sought to use an induction gene trap strategy to enrich for trapping events that lead to inner ear expres...Genetics; Heredity2000-08
68 Cosmid vector design for large scale sequencing: the Pyrococcus furiosus genomeGenomic sequencing can be thought of as a process of disassembling a genome into smaller pieces and subsequent reassembly back into the completed genome. This process involves the representation of the genome in libraries of DNA pieces consisting of fractions of the genome ranging in size from 100s ...Microbial; Pyrococcus furiosus2000-05
69 Genetic Screen and Functional Analysis of Steroid-Triggered Cell Death in DrosophilaThe steroid hormone ecdysone triggers the stage-specific destruction of Drosophila larval tissues through transcriptional cascades that induce two distinct forms of programmed cell death: caspase-dependent apoptosis and lysosome-mediated autophagy. In this thesis, I describe the use of genetic sc...Drosophila; Cell Death; Steroids2010-02-22
70 Functional Analysis of Neural Precursor Cell Expressed Developmentally Down Regulated, Gene 4 Isoforms that Contain or Lack a Conserved Region 2 of Protein Kinase C DomainA defining feature of NEDD4L protein isoforms is the presence or absence of an amino-terminal C2 domain, a class of subcellular, calcium-dependent targeting domains. We previously identified a common variant in human NEDD4L that generates isoforms that contain or lack a C2 domain. To address the ...Protein Kinase C2010-01-17
71 Molecular and Cellular Mechanisms Regulating Exocrine Pancreas Growth and RegenerationThe pancreas is a complex organ consisting of both an endocrine and exocrine function. Cells of the endocrine pancreas control blood sugar, while the exocrine pancreas is responsible for providing enzymes used in digestion of food. These enzymes are synthesized by acinar cells, which comprise the ma...2014-08
72 Functional analysis of Tbx5 amd Tbx4 genesMembers of T-box family of transcription factors play critical roles in multiple aspects of development. Tbx5 and Tbx4 are a cognate gene pair arising from duplication of a common ancestral gene. Despite the high degree of sequence and structure similarity, these two genes show dramatic differences ...Genetics ;Mice2004-08
73 Regulation of Cardiac Metabolism by AutophagyAutophagy is a catabolic pathway thatdegradesdamaged proteins and organelles in lysosome; however, the exact role ofautophagy in cardiac function in physiological and pathological statesis incompletely understood. To investigate the role of autophagy in the heart, we generated a ca...2016-12
74 Role of hoxa1 in mammalian hindbrain, inner ear and neural crest developmentHomeobox transcription factors belong to a family of proteins involved in an array of developmental processes, the most important being specification of the anteriorposterior axis of the embryo. The first and one of the most anteriorly expressed Hox genes during development is Hoxa1. Mouse knockout...Hoxa1; Mammalian; Hindbrain; Inner ear; Neural crest; Development; Rhombencephalon; Homeobox transcription factors; Hox genes2010
75 Isolation and characterization of ecdysone-inducible genes from DrosophilaMetamorphosis in Drosophila melanogaster is initiated by a pulse of the steroid hormone ecdysone. The genetic response to ecdysone can be visualized in the reproducible puffing patterns of the giant salivary gland polytene chromosomes of late third instar larvae. A hierarchical model to account for ...Zinc Fingers; Cytochrome P-450; Molecular Biology1994-06
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