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1 Role of Hoxb13 in caudal axis patterning and prostate developmentVertebrate Hox genes encode a family of homeobox transcription factors that regulate developmental programs and determine the embryonic body plan. These functions have largely been determined by the generation of loss-of-function mutations in vertebrate Hox genes through gene targeting technology in...Physiopathology; Vertebrate Hox Genes2002-12
2 Molecular genetic analysis of bithorax complex functions in Drosophila melanogasterIn Drosophlla melanogaster, the homeotic genes clustered in the bithorax complex (BX-C) are responsible for specifying individual metameric identities of the posterior thorax and abdomen. The BX-C genes, Ultrabithorax (Ubx), abdominal-A (abd-A) and Abdominal-B (Abd-B), encode a conserved family of h...Genetics; Ultrabithorax1994-03
3 Genetic analysis of quantitative traits in the Utah CEPH pedigreesThe CEPH (Centre d'Etude du Polymorphisme Humain) project began in 1984 as a collaborative effort to map genetic markers using a set of randomly ascertained families. Since 1997, members of the subset of CEPH families that reside in Utah have been measured for a large number of quantitative traits, ...Utah; Medical Genetics; Utah Genetic Reference Project2003-12
4 Function of the Wnt3 gene is required for mouse gastrulationGastrulation is the complex series of cell movements from which the axes and germ layers of the embryo emerge. Mutations in a number of genes perturb gastrulation with respect to cell movements and gene expression. Which genes are responsible for the initiation of gastrulation has been heretofore un...Embryology; Gastrulation; Wnt3; Embryonic Lethality; Molecular Biology2002-05
5 Genotype-Phenotype Association Using High Throughput Sequencing DataGenotype Phenotype Association (GPA) is a means to identify candidate genes and genetic variants that may contribute to phenotypic variation. Technological advances in DNA sequencing continue to improve the efficiency and accuracy of GPA. Currently, High Throughput Sequencing (HTS) is the preferred ...2015-08
6 Combining Phenotype and Genotype for Discovery and Diagnosis of Genetic DiseaseSuccessful molecular diagnosis using an exome sequence hinges on accurate association of damaging variants to the patient's phenotype. Unfortunately, many clinical scenarios (e.g., single affected or small nuclear families) have little power to confidently identify damaging alleles using sequence da...2015-08
7 Roles of Glycosyltransferases in Drosophila DevelopmentIt is surprising that there are only about 80 described congenital diseases that result from mutations in any of the 1% of genes in the human genome (~200-250 genes) dedicated to protein glycosylation. It is these glycosylation events that provide tremendous protein diversity and contribute to prope...2017-08
8 HOXB8 Microglia: Origin, Development and FunctionsMicroglia are the immune system of the brain. They are critical players in the proper functioning of the neural tissues and therefore, essential for normal animal behavior. Immunological dysfunction has been heavily implicated in majority of the neurological disorders, either as a direct cause or as...Neurosciences; Immunology; Genetics2018
9 Functional Aspects of Adenomatous Polyposis Coli Protein Dimerization and Posttranslational RegulationThe Adenomatous Polyposis Coli (APC) tumor suppressor gene is responsible for an inherited predisposition to colon cancer through the development of multiple colorectal adenomas. Mutations in APC are also found in the majority of sporadic colorectal cancers, indicating that APC function is critical ...1999-05
10 Genetic Basis of Distal ArthrogryposesEvery year millions of children are born with a birth defect. Birth defects, which can be described as abnormalities of structure or function that is present from birth, are the leading cause of infant death in developed countries and a significant cause of morbidity and economic burden in low- or m...2006-12
11 Jun Signaling During Drosophila DevelopmentJun N-terminal kinase (JNK) signaling is a key modulator of development and disease in all multicellular organisms. One process in which the consequences of both gain and loss of JNK signaling can be monitored is embryonic dorsal closure (DC) in the fruit fly, Drosophila melanogaster. DC occurs midw...2016-05
12 Functional Analysis of the Mitochondrial Proteome in DrosophilaMitochondria are complex organelles that have important roles in energy production, intermediary metabolism, signal transduction, and apoptosis. Given these critical cellular functions, major efforts have been made to determine the identity of the mitochondrial proteome. Remarkably, about one fifth ...2014-05
13 Improved Methods for Next Generation Sequencing-Based Conotoxin DiscoveryCone snails (genus Conus) have attracted scientific interest for the great neuropharmacological potential of their venoms to treat chronic pain, which consist of a complex mixture of peptides known as conotoxins. For discovery purposes, we have carried out a survey of the venom-ducts of 22 Conus spe...Bioinformatics2017
14 Mutational analyses of members of the fibroblast growth factor family and Hoxa-9 during mouse developmentThe complex pattern of events that govern embryogenesis and subsequent development is regulated by an intricate interplay of polypeptide growth factors and transcription factors. The work presented in this dissertation has focused on the role of one family of polypeptide growth factors-the fibroblas...Mice - Development; Mice - Genetics - Fibroblast growth factors; Transcription factors1997-06
15 Molecular studies of familial adult myoclonic epilepsy and Andersen's syndromeWe investigated two electrical episodic disorder, familial adult myoclonic epilepsy (FAME) and Andersen's syndrome (AS), to identify molecular components involved in cell excitability in humans. FAME is characterized by autosomal dominant inheritance, adult onset, myoclonus of the limbs, generalized...Epilepsy - Genetic aspects; Genetic disorders2001-12
16 Defining the cell of origin and mechanism of pancreatic tumorigenesisPancreatic ductal adenocarcinoma (PDAC) is a devastating disease that is almost uniformly lethal within the first year of diagnosis and is the fourth leading cause of cancer deaths in the United States. Activating mutations in the KRAS protooncogene are found in nearly all human PDAC cases as well a...Genetics; Cellular biology; Developmental biology2011
17 Targeted Mutagenesis of the Hox D Locus: A Genetic Analysis of Limb Development in the MouseThe Hox Complex is a matrix of 38 transcription factor genes that play a role in the proper development of the vertebrate body plan by specifying regional information along the embryonic axes. The 5' Hox D genes are a subset of this complex that are strongly expressed in the limb buds during embryog...Mice - Genetics1995-12
18 Molecular and genetic analysis of the Drosophila segmentation gene odd-paired a target of homeotic gene regulation in the embryonic midgutDuring the process of animal development, initially uniform fields of cells acquire distinct identities. One manifestation of this process is the generation of unique morphology within a metameric series, such as the segments of the Drosophila larva or the vertebrae of the mammalian skeleton. The Dr...Genetics; Genes, Homeobox1996-06
19 Spinocerebellar ataxia with retinal degeneration: from phenotype to gene to protein.This dissertation describes a hereditary neurological disorder, autosomal dominant cerebellar ataxia with retinal degeneration, from initial clinical findings through analysis and isolation of the responsible gene, to study of the affected protein. The work described herein follows a research arc be...DNA; Neuropathology2001-12
20 Isolation and characterization of Drosophila nuclear receptor superfamily members.Pulses of the steroid hormone ecdysone induce changes in gene expression that lead to the onset of metamorphosis in Drosophila melanogaster. The large number of nuclear receptor superfamily members that are regulated by ecdysone, as well as the functional interactions among vertebrate members of thi...Genetics; Development1998-03
21 Homeotic genes and regional specification in Drosophila: characterization of the abdominalA gene and mechanisms of transcriptional control by homeotic proteinsDuring animal development, different regions of an embryo acquire distinct identities. In Drosophila melanogaster, morphological distinctions along the anterior-posterior axis require the function of homeotic genes. Homeotic genes are expressed in complex, overlapping patterns along the anterior-po...Mutation; Proteins; Transcription, Genetic1993-06
22 Isolation and characterization of early B lymphoid progenitor cell populationsThe isolation and functional characterization of phenotypically defined populations of hematopoietic stem and progenitor cells have enabled the study of the early stages in blood cell development. Using a combination of cell surface markers and fluoresence-activated cell sorting, we isolated a cell ...B Lymphoid; Progenitor Cell; Lympyhoid Progenitors; Immunology; Cellular Biology2000-08
23 "Of mice and men": connective tissue regulation of muscle developmentDevelopment of the limb musculoskeleton requires the coordinated morphogenesis of muscle with connective tissue, tendon, and bone. The close developmental association of muscle with muscle connective tissue suggests that interactions between these tissues may be critical for development. T-box trans...Genetics2017
24 Overexpression of Angiotensinogen in Proximal Tubule Leads to Sodium-Sensitivity of Blood PressureCommon genetic variation in angiotensinogen (AGT) predispose to essential hypertension EH in humans. Understanding the mechanism at play will require demonstration in experimental animals with phenotypic expression closely replicating the human condition. AGT is differentially regulated at variou...Hypertension; Angiotensins; Mice2010-04-19
25 Homeotic gene silencing in Drosophila.Homeotic genes specify segment identity in Drosophila. Their pattern of expression is set early in the embryo by the transient expression of the segmentation genes. Later in development, when the products of the segmentation genes are no longer present, the Polycomb Group of genes (PcG) silences the...Genetics; Polycomb Group2007-12
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