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76 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
77 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
78 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
79 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
80 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
81 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
82 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
83 Dissection of Neurometabolic Disease Using Drosophilia Melanogaster: Bubblegum and Double Bubble Mutants Suggest New Cellular Defects in Adrenoleukodystrophy PathologyAltered lipid metabolism is a recognized contributor to neurodegenerative (ND) conditions, both rare and common, such as Adrenoleukodystrophy (ALD) and Alzheimer's disease that affect millions of individuals worldwide. For most of these diseases, therapeutic options are limited. Significant therapeu...Neurosciences; Genetics; Medicine2016-05
84 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
85 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
86 Interactions of T-box genes in the zebrafish mesoderm: Tbx6 and No TailThe T-box genes encode a family of transcription factors important for tissue differentiation and morphogenesis. Like the Hox genes, T-box genes are often expressed in overlapping patterns within developmental precursor populations. T-box gene mutations often affect only a subset of the cells that n...Genetics; Gene Expression1998-12
87 Genes that overcome drug-induced cholesterol auxotrophyMammalian cells obtain cholesterol via endocytic uptake of cholesterol-rich lipoproteins and de novo synthesis through a multistep pathway. However, excess cholesterol is deleterious and cellular cholesterol levels must be strictly regulated. This regulation involves a complex set of homeostatic pro...Genetics; Physiopathology1999-12
88 Molecular genetics of Williams syndromeWilliams syndrome (WS) is a developmental disorder characterized by cardiovascular disease, connective tissue abnormalities, unique personality, specific cognitive profile, mental retardation, and infantile hypercalcemia. Over the past five years, our laboratory discovered that submicroscopic delet...Mental Disabilities1996-06
89 Contributions of retinoblastoma and p53 to breast carcinogenesisThe lifetime risk for a woman to develop breast cancer is 1 in 9 and yet relatively little is known about the early events and conditions that allows for this disease to develop. Tumor suppressor genes are fundamental to the regulation of cellular proliferation and are frequent targets of mutations...Genetic Predisposition to Disease1999-12
90 Structural and genetic studies of stimulators for recodingRecoding is the programmed alteration of translation, a dynamic process in which specific signals within the mRNA act as stimulators to alter the ribosomes reading of the genetic code. There are three broad classes of recoding including translational frameshifting, redefinition of codons, and transl...2003-12
91 Whole or Hole? Development of the Diaphragm and Congenital Diaphragmatic HerniasThe mammalian diaphragm is the most critical skeletal muscle and defects in the development of the diaphragm give rise to congenital diaphragmatic hernias (CDH), which are common and frequently lethal birth defects. The diaphragm has been proposed to develop from multiple embryonic sources, but how ...2014-08
92 Analysis of the Physiological Roles of the Nonsense Mediated mRNA Decay Pathway in Drosophila MelanogasterThe nonsense mediated mRNA decay (NMD) pathway is a conserved posttranscriptional mRNA decay pathway that functions to destabilize a variety of naturally occurring target mRNAs. The NMD pathway functions in all eukaryotes and regulates a significant portion of the transcriptome. It is thought that t...2014-08
93 Attenuation of Decapentaplegic Signaling Via a Localized Chondroitin-Sulfated Signaling SinkGlycosaminoglycans (GAGs) are long linear polysaccharides made of disaccharide repeats. The GAGs heparan and chondroitin are found ubiquitously on cell surfaces in many organisms and are involved in regulating developmental signaling, immunity, and mediating many cell-cell interactions. In Drosophil...2014-12
94 Modeling Clear Cell SarcomagenesisClear cell sarcoma (CCS) is a rare but devastating malignancy with a proclivity for young adults, disturbingly low survivability, and recalcitrance to therapies. Due to the low incidence, it remains difficult to investigate the mechanism behind CCS. By generating an accurate model system that recapi...2014-12
95 Regulation of C. elegans Sperm Activation by the Protease Inhibitor SWM-1Creation of the next generation by sexual reproduction requires the fusion of male and female gametes. For many species, this entails a sessile oocyte and a highly motile spermatozoon with remarkable ability to sense and migrate through the often structurally and chemically complex reproductive trac...Genetics; Molecular biology; Cellular biology2018
96 Platelets, Cytokines, and Proangiogenic Factors in the Maintenance of Vessel IntegrityAlmost all vascular diseases are linked to an inflammatory milieu that produces a toxic brew of angiogenic and inflammatory cytokines, which distort tissue architecture and function. These cytokines are produced by a cohort of cells, including endothelial cells, which line blood vessels, and immune ...2015-08
97 Polyamine stimulation of antizyme frameshiftingTranslation normally occurs in a linear fashion reading nonoverlapping nucleotide triplets. Alternatively, some genes require translation in two overlapping reading frames. The ability of the ribosome to change to an alternative reading frame is called frameshifting. Frameshifting occurs at a specif...Cell Physiology2006-05
98 Genetic Dissection of Nonsense-Mediated mRNA Decay in DrosophilaThe nonsense-mediated mRNA decay (NMD) pathway functions as a quality control mechanism and a feature of post-transcriptional gene regulation. NMD degrades mRNAs containing premature termination codons (PTCs) to prevent the production of potentially harmful truncated proteins, and it also destroys m...2016-08
99 Maintenance of Acinar Cell Differentiation by PTF1A Inhibits Pancreatic Cancer InitiationPancreatic cancer remains one of the poorest prognoses in medicine, with limited treatment options and 5-year patient survival of only ~7%. Activating mutations in the Kras proto-oncogene (KrasG12D) are nearly ubiquitous in human pancreatic cancer and are sufficient to initiate precancerous pancreat...Molecular biology; Physiology; Public health; Oncology; Epidemiology2017
100 Surveying the Genetic Risk Landscape Of Amyotrophic Lateral Sclerosis in The Era of Next-Generation SequencingAmyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is an adult-onset fatal disease in which the upper and lower motor neurons of the body progressively degenerate. Efforts to understand the pathophysiology of ALS over the past two decades have shown that mutations in genes invo...Neurosciences; Genetics; Medicine; Physiology2017
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