Sökning: "Clinical genetics"

Visar resultat 16 - 20 av 525 avhandlingar innehållade orden Clinical genetics.

1. 16. 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. 17. Studies of the Ribosomal Protein S19 in Erythropoiesis

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

   Sammanfattning : 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. LÄS MER

4. 18. Functional characterization of interactions between the flavivirus NS5 protein and PDZ proteins of the mammalian host

   Författare :Karin Ellencrona; Magnus Johansson; Andrew Davidson; Stockholms universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Tick-borne encephalitis virus TBEV ; West-Nile virus WNV ; Dengue virus DENV ; flavivirus; PDZ domains; ZO-2; ZO-1; RIMS2; Scribble; Interferon; JAK-STAT signaling; PDZ array; virus-host protein interaction; Genetics; Genetik; molekylärgenetik; Molecular Genetics;

   Sammanfattning : Flaviviruses are found all over the world and affect and infect millions of people every year. Flavivirus infection can lead to severe clinical outcomes resulting in neuronal damages e.g. Tick-borne encephalitis virus (TBEV), or severe hemorrhagic fevers e. LÄS MER

5. 19. Molecular investigation of mucopolysaccharidosis type II (Hunter syndrome) in man

   Författare :Stanislav L. Karsten; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mucopolysaccharidosis type II; Hunter syndrome; MPSII; iduronate-2-sulfatase; mutational analysis; homologous nonhomologous recombination; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

   Sammanfattning : Mucopolysaccharidosis type II or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS). The disorder is inherited in an X-linked recessive fashion and has a broad spectrum of clinical phenotypes ranging from severe to mild. LÄS MER

7. 20. Genomic rearrangements at the cause of three genetic disorders in man

   Författare :Kristina Lagerstedt; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mucopolysaccharidosis type II MPS II ; The Hunter syndrome; Incontinentia pigmenti IP ; Blepharophimosis; ptosis; epicanthus inversus syndrome BPES ; mutational analysis; nonhomologous end joining NHEJ ; homologous recombination HR ; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

   Sammanfattning : Genomic rearrangements are a common cause of genetic disorders in man. This thesis describes the analysis of genomic rearrangements observed in patients with the Hunter syndrome (MPS II), incontinentia pigmenti (IP) and the Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). MPS II is an X-linked recessive lysosomal storage disorder. LÄS MER