Essays about: "exon"

Showing result 1 - 5 of 34 essays containing the word exon.

  1. 1. 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

  3. 2. The Synthesis and Development of Potential Small Molecule Splice Modifiers toward a central nervous system (CNS) target for the treatment of a genetic disease

    University essay from KTH/Kemiteknik

    Author : Flore Miomandre; [2023]
    Keywords : organic synthesis; medicinal chemistry; pharmaceutical candidate; small molecule; genetic disease; organisk syntes; läkemedelskemi; läkemedelskandidat; småmolekylär; genetisk sjukdom;

    Abstract : Behandling av sällsynta sjukdomar är en stående utmaning inom läkemedelskemi då mer än 400 miljoner människor lider av 7000 olika sällsynta sjukdomar där få godkända läkemedel finns tillgängliga. Fokus för detta arbete är att syntetisera läkemedelskandidater för en sällsynt och livslång form av epilepsi med frekventa och långvariga anfall. READ MORE

  4. 3. Studier av genetisk bakgrund till nedsatt spermiekvalitet hos berner sennenhundar

    University essay from SLU/Dept. of Clinical Sciences

    Author : Martin Kläschen; [2022]
    Keywords : Berner sennen; fertilitet; spermiekvalitet; spermiemorfologi; kandidatgener; DNAH1; ARCM2; RNA;

    Abstract : Syftet med denna studie var att undersöka möjliga ärftliga faktorer till nedsatt spermiekvalitet hos berner sennenhundar i Sverige. I tidigare morfologiska studier av sperma från berner sennenhundar konstaterades att de har ett förhöjt antal svansdefekter jämfört med normalvariation för hundar. READ MORE

  5. 4. Understanding the pathophysiology ofrecurrent UBTF mutations associated withpediatric AML

    University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

    Author : Annie Paulsson; [2022]
    Keywords : Hematologi; Cancer; AML; UBTF; leukemi;

    Abstract : Acute myeloid leukaemia (AML) is highly heterogeneous haematological malignancy, which represents a challenge in the understanding of the disease. Relapse in AML is common, andmany relapsed patients respond poorly to conventional treatment, leading to a low survivalrate. READ MORE

  6. 5. Sex and tissue specific DNA methylation patterns in the house sparrow (Passer domesticus)

    University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

    Author : Yuming Shi; [2021]
    Keywords : DNA methylation; tissue-specific pattern; sex-specific pattern; house sparrow;

    Abstract : DNA methylation patterns are sex and tissue specific in many species, yet many studies useblood samples, due to its accessibility, to establish links between the DNA methylation anddifferent phenotypes. This raises the question of whether DNA methylation in blood samplesreflect the DNA methylation pattern in other tissues that are more relevant to the phenotypebeing studied. READ MORE