Sökning: "tandem duplication"

Visar resultat 1 - 5 av 14 avhandlingar innehållade orden tandem duplication.

  1. 1. Variation in length of proteins by repeats and disorder regions

    Författare :Rauan Sagit; Arne Elofsson; Andrey Kajava; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; protein length; repeats; domain repeats; protein evolution; duplication; tandem duplication; intrinsic disorder; intrinsically disordered; variation in length; insertion; deletion; recombination; expansion; contraction; Biochemistry; biokemi;

    Sammanfattning : Protein-coding genes evolve together with their genome and acquire changes, some of which affect the length of their protein products. This explains why equivalent proteins from different species can exhibit length differences. LÄS MER

  3. 2. Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

    Författare :Christian Wentzel; Ann-Charlotte Thuresson; Göran Annerén; Anita Rauch; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; intellectual disability; 22q11.2 duplication syndrome; 6q deletion; 6q duplication; 10p deletion; developmental delay; mental retardation; dysmorphic features; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Intellectual disability (ID) affects approximately 1-3% of the population and is defined as having an IQ below 70 as well as a significant limitation in adaptive behavior.The implementation of chromosomal microarrays (CMA) into the field of clinical genetics has revolutionized the ability to find genetic aberrations responsible for different genetic disorders. LÄS MER

  4. 3. Creation of new proteins - domain rearrangements and tandem duplications

    Författare :Åsa Björklund; Arne Elofsson; Sarah Teichmann; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Bioinformatics; Bioinformatik; Biochemistry; biokemi;

    Sammanfattning : Proteins are modular entities with domains as their building blocks. The domains are recurrent protein fragments with a distinct structure, function and evolutionary history. During evolution, proteins with new functions have been invented through rearrangements as well as differentiation of domains. LÄS MER

  5. 4. FLT3 receptor in normal and malignant hematopoiesis

    Författare :Shabnam Kharazi; Stamcellscentrum (SCC); []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; FLT3-ITD; FLT3; lineage commitment; acute myeloid leukemia; myeloprolifetaive disease; hematopoietic stem cell;

    Sammanfattning : All hematopoietic cells originate from hematopoietic stem cells (HSCs) residing in the bone marrow (BM). The classical model of hematopoietic lineage commitment, that has been the prevailing model for hematopoiesis, proposes that the first lineage commitment step of HSCs and progenitors results in a strict separation of myelopoiesis and lymphopoiesis. LÄS MER

  7. 5. The relationship between orthology, protein domain architecture and protein function

    Författare :Kristoffer Forslund; Erik Sonnhammer; Cristina Al-Khalili Szigyarto; Sarah Teichmann; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; homology; orthology; paralogy; gene duplications; protein function prediction; low-complexity regions; protein domains; domain architecture evolution; introns; intron position conservation; orthology conjecture; domain grammar hypothesis; biokemi; inriktning teoretisk kemi; Biochemistry with Emphasis on Theoretical Chemistry;

    Sammanfattning : Lacking experimental data, protein function is often predicted from evolutionary and protein structure theory. Under the 'domain grammar' hypothesis the function of a protein follows from the domains it encodes. LÄS MER