Essays about: "Genetic Disease"

Showing result 1 - 5 of 229 essays containing the words Genetic Disease.

  1. 1. Estimating Variant Intolerance for Genes of Cattle

    University essay from SLU/Dept. of Animal Breeding and Genetics

    Author : Simon Lanigan; [2024]
    Keywords : Genes; Cattle;

    Abstract : Cattle play a crucial role in providing nutrition and economic stability worldwide. Threats to their health, particularly infectious diseases, and genetic mutations, can have profound implications for both animal and human livelihoods. READ MORE

  3. 2. Effects of phosphorylation on the ADP-ribosylation activity of PARP16

    University essay from Lunds universitet/Kemiska institutionen

    Author : Virginia Martín Cristóbal; [2023]
    Keywords : ADP-ribosylation; Kinases; PARP16; Phosphorylation; UPR biochemistry; Biochemistry; Chemistry;

    Abstract : PARP16/ARTD15 is an intracellular mono-ADP-ribosyltransferase that catalyzes auto- and heteromodification by transfer of a single ADP-ribose moiety. It belongs to the ADP-ribosyltransferase (ART) superfamily. READ MORE

  4. 3. Exploring the genetic cause of myotonic dystrophy in horses

    University essay from SLU/Dept. of Animal Breeding and Genetics

    Author : Thomas Simon; [2023]
    Keywords : genetics; bioinformatics; myotonic dystrophy; horses; variant analysis;

    Abstract : Myotonic Dystrophy (MD) is an inherited neuromuscular disorder that leads to a wide range of clinical signs including stiffness, abnormal muscle relaxation, and muscle atrophy or hypertrophy. Affected muscles develop a prolonged contracture in response to percussion of the muscle and show waxing and waning complex repetitive discharges in electromyography (EMG). READ MORE

  5. 4. Care and the Potential of Genetic Counseling: A Clinical Fieldwork

    University essay from Lunds universitet/Sociologiska institutionen; Lunds universitet/Socialantropologi

    Author : Frederik Jacques Paulsen; [2023]
    Keywords : Medical anthropology; genetics; care; telecare; Social Sciences;

    Abstract : Recent decades have witnessed an innovation in genetics and biomedical practices, shifting the practice from treatment to prevention. Testing healthy individuals for genetic inherited diseases has now become increasingly common, preventing potential disease by offering early screenings, medication, or potentially surgery, reducing the genetic risk from developing into disease. READ MORE

  6. 5. Exploring the genetic cause of myotonic dystrophy in horses

    University essay from SLU/Dept. of Animal Breeding and Genetics

    Author : Thomas Simon; [2023]
    Keywords : genetics; bioinformatics; myotonic dystrophy; horses; variant analysis;

    Abstract : Myotonic Dystrophy (MD) is an inherited neuromuscular disorder that leads to a wide range of clinical signs including stiffness, abnormal muscle relaxation, and muscle atrophy or hypertrophy. Affected muscles develop a prolonged contracture in response to percussion of the muscle and show waxing and waning complex repetitive discharges in electromyography (EMG). READ MORE