Search for dissertations about: "genetics of bone"

Showing result 1 - 5 of 61 swedish dissertations containing the words genetics of bone.

  2. 1. PARN - A Tale of A de-Tailor : Functional importance of poly(A) degradation in developmental and telomere biology disorders

    Author : Sethu Madhava Rao Gunja; Anders Virtanen; Jonas von Hofsten; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; PARN; Telomere biology disorders; snoRNAs; scaRNAs; TR TERC; Zebrafish; Biology with specialization in Molecular Cell Biology; Biologi med inriktning mot molekylär cellbiologi; Molekylär genetik; Molecular Genetics; Molekylär cellbiologi; Molecular Cellbiology;

    Abstract : Poly(A)-specific ribonuclease (PARN) is a eukaryotic 3’-5’exoribonuclease that removes poly(A) tails of many coding and non-coding RNAs. In this thesis, we have studied the physiological role of PARN. READ MORE

  4. 2. Human leukocyte antigen in sickness and in health : Ankylosing spondylitis and HLA in Sweden

    Author : Jessika Nordin; Kerstin Lindblad-Toh; Jennifer Meadows; Matthew Webster; Alison Meynert; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Disease genetics; Ankylosing spondylitis; HLA typing; Imputation; Inference; Sex-stratified; HLA-B*27 independent; Association tests; Functional validation; Bioinformatics; Bioinformatik; Molekylär genetik; Molecular Genetics;

    Abstract : The human leukocyte antigen (HLA) plays a major role in keeping us healthy, but some of the HLA alleles can contribute to disease susceptibility. One example is HLA-B*27, which confers increased susceptibility of ankylosing spondylitis and represents one of the strongest genetic associations found in any common human disease. READ MORE

  5. 3. Studies of the Ribosomal Protein S19 in Erythropoiesis

    Author : Hans Matsson; Niklas Dahl; Leif Carlsson; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; RPS19; Rps19; erythropoiesis; erythroblastopenia; Diamond-Blackfan; anemia; Genetik; Genetics; Genetik;

    Abstract : Ribosomal proteins are components of the ribosome, the protein synthesis machinery. The ribosomal protein S19 gene (RPS19) is mutated in Diamond-Blackfan anemia, DBA, which is a rare congenital anemia with absence or reduction of erythroid precursors in bone marrow. In this thesis, the role of RPS19 in erythropoiesis is investigated. READ MORE

  6. 4. Effects of antiresorptive agents on inflammation and bone regeneration in different osseous sites - experimental and clinical studies

    Author : Carina Cardemil; Peter Thomsen; Cecilia Larsson Wexell; Bente Brokstad Herlofson; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Qntiresorptive agents; ovariectomised rat; osteoporosis; skeletal site; differences osteonecrosis of the jaw; osseointegration; bone substitute; inflammation; bone regeneration; gene expression; histomorphometry; Micro-CT; antiresorptive agents; ovariectomised rat; osteoporosis; skeletal site differences; osteonecrosis of the jaw; osseointegration; bone substitute; inflammation; bone regeneration; gene expression; histomorphometry; Micro-CT;

    Abstract : The biological mechanisms involved in bone regeneration in osteoporotic bone and the effect of antiresorptive drugs in relation to surgically inserted biomaterials are not fully understood. Improved osseointegration of titanium implants but also adverse effects of antiresorptive therapies, such as osteonecrotic jaw have been described in the literature. READ MORE

  7. 5. Diamond-Blackfan anemia : Mapping and identification of the disease gene

    Author : Peter Gustavsson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Diamond-Blackfan anemia; erythropoiesis; positional cloning; chromosome 19q13; ribosomal protein S19 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Abstract : This thesis presents the positional cloning of the gene behind Diamond-Blackfan anemia. Evidence for the involvement of ribosomal protein (RP) S19 gene mutations in Diamond-Blackfan anemia is given. This is the first example of a human disease that is directly related to a ribosomal protein. READ MORE