Sökning: "Medical and Health Sciences Basic Medicine Medical Genetics"

Visar resultat 21 - 25 av 371 avhandlingar innehållade orden Medical and Health Sciences Basic Medicine Medical Genetics.

  1. 21. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

    Författare :Doroteya Raykova; Niklas Dahl; Ann Nordgren; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. LÄS MER

  3. 22. Genetic Predisposition to Sporadic and Familial Multiple Myeloma

    Författare :Britt-Marie Halvarsson; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; multiple myeloma; genetics; inherited predisposition; familial multiple myeloma; GWAS; polygenic risk score;

    Sammanfattning : Multiple Myeloma (MM) is the second most common hematological malignancy. It is defined by an uncontrolled growth of plasma cells, usually in the bone marrow. Clinically it is complicated by hypercalcemia, renal failure, anaemia, and bone pain. LÄS MER

  4. 23. Epigenetic changes and immunological features of chronic obstructive pulmonary disease

    Författare :Jonas Eriksson Ström; Annelie F. Behndig; Anders Bucht; Anne Lindberg; Erik Melén; Fabbri Leonardo M.; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; COPD; immunology; epigenetics; KOLIN; lungmedicin; Lung Medicine; immunologi; Immunology; medicinsk genetik; Medical Genetics;

    Sammanfattning : Background: Chronic obstructive pulmonary disease (COPD) is a heterogenous and chronic inflammatory syndrome with the lungs as its main target organ. Clinically, COPD is characterized by airflow limitation, chronic respiratory symptoms, and many extrapulmonary comorbidities. LÄS MER

  5. 24. On Transcriptome Sequencing

    Författare :Daniel Klevebring; Joakim Lundeberg; Ulf Gyllensten; KTH; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Transcriptome; RNA-seq; DNA sequencing; gene expression profiling; non-coding RNA; small RNA; Functional genomics; Funktionsgenomik; Bioinformatics; Bioinformatik; Genetics; Genetik; Molecular biology; Molekylärbiologi; Cell biology; Cellbiologi;

    Sammanfattning : This thesis is about the use of massive DNA sequencing to investigate the transcriptome. During recent decades, several studies have made it clear that the transcriptome comprises a more complex set of biochemical machinery than was previously believed. LÄS MER

  7. 25. Psychological and Behavioral Aspects of Receiving Genetic Counseling for Hereditary Cancer

    Författare :Afsaneh Hayat Roshanai; Karin Nordin; Richard Rosenquist; Yvonne Brandberg; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary cancer; genetic counseling; psychological distress; adherence; genetic knowledge; risk perception; sharing genetic information; at-risk relatives’ experiences; informational needs; Clinical genetics; Klinisk genetik; Public health science; Folkhälsovetenskap; Psychology; Psykologi; Genetics; Genetik;

    Sammanfattning : The overall aims of this thesis were to investigate psychological and behavioral effects of receiving cancer genetic counseling for breast, ovarian and colorectal cancer and/or with a family history of these cancer types and to determine whether counselees’ informational needs were met. Study I was performed 3-7 years post-counseling. LÄS MER