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Showing 1 to 20 of 29 for “"loss-of-function mutation"”.

  1. Positionelle Klonierung von Tbc1d1 als Kandidatengen für Adipositas

    … von Genexpressionsanalysen auf Unterschiede in stoffwechselrelevanten Geweben zwischen beiden Mausstämmen untersucht. Sieben Gene zeigten eine differentielle Expression: 2310045A20Rik, Tbc1d1, Ppp1cb, Mll5, Insig1, Abhd1 und Alox5ap. Die codierenden Bereiche dieser Gene wurden anschließend auf …

    potsdam-diss Repository record for Positionelle Klonierung von Tbc1d1 als Kandidatengen für Adipositas (opens in a new tab)

  2. Genetic interactors of the SWI/SNF chromatin remodelling complex in Caenorhabditis elegans

    … machines that can directly alter the structure of chromatin by reshuffling or evicting nucleosomes. Thereby they control the access to DNA elements like promoters and replication origins that need to be exposed to execute essential cellular processes such as transcription and replication. …

    cambridge Repository record for Genetic interactors of the SWI/SNF chromatin remodelling complex in Caenorhabditis elegans (opens in a new tab)

  3. Identification of Cyclophilin gene family in soybean and characterization of GmCYP1

    I identified members of the Cyclophilin (CYP) gene family in soybean (Glycine max) and characterized the GmCYP1, one of the members of soybean CYP. CYPs belong to the immunophilin superfamily with peptidyl-prolyl cis-trans isomerase (PPIase) activity. PPIase catalyzes the interconversion of the …

    uwo Repository record for Identification of Cyclophilin gene family in soybean and characterization of GmCYP1 (opens in a new tab)

  4. Two-photon calcium imaging sequence Analysis Pipeline : a method for analyzing neuronal network activity

    Investigating the development of neuronal networks can help us to identify new therapies and treatments for conditions that affect the brain, such as autism and Alzheimer's disease. Two-photon calcium imaging has been a powerful tool for the investigation of the development of neuronal networks. …

    mit Repository record for Two-photon calcium imaging sequence Analysis Pipeline : a method for analyzing neuronal network activity (opens in a new tab)

  5. A Novel Role for Odorant Binding Proteins in Deactivation of Drosophila Olfactory Neurons

    … binding proteins are a large and diverse group of low molecular weight proteins secreted into the fluid bathing olfactory and gustatory dendrites. The best-characterized OBP, known as LUSH, is required in Drosophila melanogaster for the detection of physiological levels of the male-specific …

    utswmed Repository record for A Novel Role for Odorant Binding Proteins in Deactivation of Drosophila Olfactory Neurons (opens in a new tab)

  6. Understanding Host Tolerance to Transposable Elements

    … Host genomes can avoid these fitness costs of TEs either by regulating TE proliferation, or by altering gametogenesis to tolerate TE-induced DNA damage. Although TE regulation through piRNAs is studied extensively, little is known about mechanisms of gametogenic tolerance to TE activity. To …

    houston Repository record for Understanding Host Tolerance to Transposable Elements (opens in a new tab)

  7. Tbx20 - Ein essentieller Regulator der Entwicklung des atrioventrikulären Kanals im Zebrafisch

    … transkriptorischen Aktivatorfunktion führt. Die loss of function- Mutation in tbx20 wurde durch einen genetischen rescue von whz durch WT-tbx20 bestätigt. Die durchgeführten Analysen kamen zu dem Schluss, dass im Zebrafisch die Entwicklung des AVC durch die synergistische transkriptorische …

    heid-diss Repository record for Tbx20 - Ein essentieller Regulator der Entwicklung des atrioventrikulären Kanals im Zebrafisch (opens in a new tab)

  8. Dissecting Earliness per se and Photoperiod heading date effects in bread wheat (Triticum aestivum)

    … two F5 (BC2F5) populations with 70 lines each of a cross between Spark and Rialto derived from BC2F2 by single seed decent (SSD), and four independent pairs of near isogenic lines (NILs) in the background Rialto were used for 1DL. Genomics and bioinformatics approach was used to design genome …

    east-anglia Repository record for Dissecting Earliness per se and Photoperiod heading date effects in bread wheat (Triticum aestivum) (opens in a new tab)

  9. The Role of UNC-45 in Heart Development and Human Breast Cancer

    … has been demonstrated as a molecular chaperone of body-wall muscle myosins. In human and other vertebrates, two UNC-45 genes code two UNC-45 protein isoforms: UNC-45A/a and UNC-45B/b. UNC-45A/a is expressed in all cell types, whereas UNC-45B/b only exists in heart and skeletal muscles. This …

    utmb Repository record for The Role of UNC-45 in Heart Development and Human Breast Cancer (opens in a new tab)

  10. The Role of Neuronal Leak Channels in Anesthesia

    <p>Volatile anesthetics (VAs) cause profound effects, including reversible lossof consciousness and immobility. The mechanism of action of VAs remains oneof the great, unsolved puzzles of neuroscience and medicine. Recent geneticstudies revealed that mutations that change anesthetic sensitivity in …

    ohiolink Repository record for The Role of Neuronal Leak Channels in Anesthesia (opens in a new tab)

  11. Mutation of SLC7A14 Causes Syndromic Hearing Loss

    Hearing loss is the most common sensory deficit worldwide. Various pathogenic variants have been linked to sensorineural hearing loss, and transcriptomic analysis has also implicated novel mutations in hair cell genes. This study investigated Slc7a14, which is upregulated in adult mouse inner hair …

    creighton Repository record for Mutation of SLC7A14 Causes Syndromic Hearing Loss (opens in a new tab)

  12. The Intersection of Neurodegeneration and Mitochondrial Stress in Caenorhabditis Elegans Models of Parkinson's Disease

    … disease (PD) is characterized by the progressive loss of dopaminergic neurons, particularly in the substantia nigra region of the brain. One of the key pathological hallmarks of PD is the accumulation of the misfolded protein, α-synuclein (α-syn). Emerging evidence suggests an interplay between …

    alabama Repository record for The Intersection of Neurodegeneration and Mitochondrial Stress in Caenorhabditis Elegans Models of Parkinson's Disease (opens in a new tab)

  13. Mechanisms of Copper Deficiency in the Zebrafish Embryo

    … organism we do not fully understand the genetics of predisposition to abnormal developmental phenotypes when faced with suboptimal nutrient levels. Copper is an essential nutrient required for critical biochemical processes. Severe defects in copper homeostasis lead to significant disease typified …

    wustl Repository record for Mechanisms of Copper Deficiency in the Zebrafish Embryo (opens in a new tab)

  14. Poly(A) Polymerase 1 (PAPS1) influences organ size and pathogen response in Arabidopsis thaliana

    Polyadenylation of pre-mRNAs is critical for efficient nuclear export, stability, and translation of the mature mRNAs, and thus for gene expression. The bulk of pre-mRNAs are processed by canonical nuclear poly(A) polymerase (PAPS). Both vertebrate and higher-plant genomes encode more than one …

    potsdam-diss Repository record for Poly(A) Polymerase 1 (PAPS1) influences organ size and pathogen response in Arabidopsis thaliana (opens in a new tab)

  15. The role of Men1 in pituitary gland tumourigenesis

    Summary The pituitary gland is a key regulator of growth, metabolism and sexual development. The pituitary gland integrates signals from the hypothalamus and from peripheral endocrine glands and responds to changing physiological needs by secreting a series of hormones that regulate the activity of

    heid-diss Repository record for The role of Men1 in pituitary gland tumourigenesis (opens in a new tab)

  16. Experimental Modelling and Molecular Mechanisms of Wallerian Degeneration in Traumatic Axonal Injury

    … (TBI) is a common event that can lead to profound consequences for the individual involved, and a considerable socio-economic cost. The initial injury event triggers a series of secondary brain injury mechanisms that lead to further mortality and contribute to morbidity. One classical injury …

    cambridge Repository record for Experimental Modelling and Molecular Mechanisms of Wallerian Degeneration in Traumatic Axonal Injury (opens in a new tab)

  17. Physiological and Molecular Dissection of Salinity Tolerance in Arabidopsis and Maize and Nitrogen Uptake in Wheat

    The PROTEOLYSIS 6 (PRT6) branch of the N-end rule pathway is a well-characterized negative regulator of flooding and low oxygen tolerance in plants. This study investigated the role of this pathway in adaptation to salinity stress in Arabidopsis and maize via physiological and molecular …

    vt Repository record for Physiological and Molecular Dissection of Salinity Tolerance in Arabidopsis and Maize and Nitrogen Uptake in Wheat (opens in a new tab)

  18. Understanding the Impact of BCRP and PGP Efflux Transporters on the Disposition of Their Endogenous, Xenobiotic and Dietary Substrates

    … that transport multiple chemical classes of compounds and act as barriers to tissue permeability, thereby regulating tissue exposure of their substrates. The role of these transporters in therapeutic resistance of their xenobiotic substrates due to their expression and efflux function at …

    tenn-hsc Repository record for Understanding the Impact of BCRP and PGP Efflux Transporters on the Disposition of Their Endogenous, Xenobiotic and Dietary Substrates (opens in a new tab)

  19. The Pro-Apoptotic Function of CED-9 Requires a CED-9-CED-4 Interaction

    Apoptosis is a fundamental, conserved process of cell death required for animal development and tissue homeostasis. In Caenorhabditis elegans apoptosis is inhibited by the BCL-2 homolog CED-9. In addition to its canonical anti-apoptotic role, CED-9 possesses an apparent proapoptotic function, …

    mit Repository record for The Pro-Apoptotic Function of CED-9 Requires a CED-9-CED-4 Interaction (opens in a new tab)

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