Sökning: "Gene families"

Visar resultat 11 - 15 av 338 avhandlingar innehållade orden Gene families.

1. 11. Genetic studies of diabetes in northern Sweden

   Författare :Sofia Mayans; Dan Holmberg; Mats Eliasson; Outi Vaarala; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diabetes; families; genetic; association; SNP; linkage; TCF7L2; CTLA-4; Calpain-10; Medical genetics; Medicinsk genetik;

   Sammanfattning : Diabetes mellitus represents a group of metabolic disorders caused by both environmental and genetic factors. The two most common forms of diabetes are type 2 diabetes (T2D) and type 1 diabetes (T1D). T2D is associated with obesity and the disease is caused by insulin resistance and pancreatic b-cell dysfunction. LÄS MER

3. 12. Gene mapping of atopic dermatitis

   Författare :Cilla Söderhäll; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Atopic dermatitis is a hereditary, pruritic, inflammatory and chronic skin disease that typically presents in early childhood. It is often associated with other atopic manifestations, such as asthma, allergic rhinoconjunctivitis, and elevated total and/or allergen-specific serum lgE levels. LÄS MER

4. 13. The art of transcriptome reconstruction : with applications in Picea abies (L.) H. Karst

   Författare :Karl Johan Westrin; Olof Emanuelsson; Henric Zazzi; Lukas Käll; Jens Sundström; Jarkko Salojärvi; KTH; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; transcriptome reconstruction; transcriptome assembly; transcript isoform detection; Picea abies; acrocona; cone setting; differential expression; gene families; miRNA; quality assessment; transkriptomrekonstruktion; sammansättning av transkriptom; detektering av transkriptisoform; rödgran; kottegran; kottsättning; differentiellt uttryck; genfamiljer; kvalitetsutvärdering; miRNA; Biotechnology; Bioteknologi;

   Sammanfattning : Transcriptome reconstruction is an important component in the bioinformatical part of transcriptome studies. When a reference genome is missing, highly fragmented or incomplete, a de novo transcriptome assembly is the transcriptome reconstruction approach of choice, since in such situations, a simple alignment (or mapping) would not necessarily give all theinformation concerning splice junctions, isoforms or even the full extent of the gene. LÄS MER

5. 14. Structural / functional studies on human alkaline phosphatases

   Författare :Alexey Kozlenkov; Jose-Luis Millan; Hans Jörnvall; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Biomedicine; mutagenesis; enzyme kinetics; computer modeling; crystallography; natural substrates; uncompetitive inhibition; isozymes; gene families; Biomedicin; Microbiology; Mikrobiologi; medicinsk genetik; Medical Genetics;

   Sammanfattning : The recent elucidation of the three-dimensional structure of human placental alkaline phosphatase (PLAP) has enabled me to perform structural studies aimed at characterizing the properties of human PLAP and tissue-nonspecific AP (TNAP) as paradigms for mammalian APs in general, using site-directed mutagenesis, protein expression, kinetic analysis and computer modeling. In Paper I, we found that a single critical E429G substitution explains the difference in stability and kinetics between the common allelic variants of PLAP and the D allozyme. LÄS MER

7. 15. Pointwise and Genomewide Significance Calculations in Gene Mapping through Nonparametric Linkage Analysis: Theory, Algorithms and Applications

   Författare :Lars Ängquist; Matematisk statistik; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; programming; actuarial mathematics; Statistik; cytogenetics; Genetik; cytogenetik; Mathematics; Matematik; Statistics; operations research; Genetics; ROC curves; conditioning loci; optimal score functions; noncentrality parameter; cost adjusted relative efficiency; exponential tilting; importance sampling; Monte Carlo simulation; normal approximation; crossover rate; process maximum; analytical approximation; significance calculations; NPL score; conditional linkage analysis; two-locus linkage analysis; Allele sharing; aktuariematematik; operationsanalys; programmering; gene-gene interaction; composite hypotheses; genetic disease models; classes of score functions; nonparametric linkage analysis;

   Sammanfattning : In linkage analysis or, in a wider sense, gene mapping one searches for disease loci along a genome. This is done by observing so called marker genotypes (alleles) and phenotypes (affecteds/unaffecteds) of a pedigree set, i.e. LÄS MER