Search for dissertations about: "protein mutation"

Showing result 41 - 45 of 598 swedish dissertations containing the words protein mutation.

  2. 41. Identification and characterization of candidate genes for neuroblastoma development

    Author : Cecilia Krona; Göteborgs universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; cancer; tumor; child; embryonal; neural crest; neuroblastoma; chromosome 1; 1p36; mutation; expression; tumor suppressor gene; UBE4B; KIF1B; PGD; CORT; DFFA; PEX14; ICAT; CASP9; ENO1; MBP1; APITD1; PHOX2B;

    Abstract : Neuroblastoma (NB) is the most common tumor during infancy. It arises from undifferentiated cells in the sympathetic nervous system and is characterized by both clinical and genetic heterogeneity. One of the features of NBs with unfavorable outcome is loss on distal chromosome 1p. READ MORE

  4. 42. SOD1 prions transmit templated aggregation and fatal ALS-like disease

    Author : Elaheh Ekhtiari Bidhendi; Thomas Brännström; Stefan L. Marklund; Peter M. Andersen; Inger Nennesmo; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; amyotrophic lateral sclerosis; SOD1; prion; neurodegeneration; strain; seeding; protein misfolding; protein aggregation; propagation; transgenic mice; Pathology; patologi; Neurology; neurologi;

    Abstract : Amyotrophic lateral sclerosis (ALS) is an adult-onset fatal neurodegenerative disease characterized by a progressive degeneration of the upper and lower motor neurons. The resulting paresis begins focally, usually in one muscle, and spreads contiguously, leading to muscle wasting, progressive paralysis and eventually death. READ MORE

  5. 43. Molecular genetic studies on cystinuria

    Author : Lotta Harnevik; Peter Söderkvist; Catharina Larsson; Linköpings universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amino acid transport systems; Amino acids diamino; Mutation; Sulphydryl compounds; urine; Cystine; Carrier proteins; Cystinuria; DNA mutational analysis; Dog diseases; genetic; Membrane glycoproteins; Medical genetics; Medicinsk genetik;

    Abstract : Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine. The only clinical manifestation of cystinuria is renal cystine stone formation due to the low solubility of cystine in the urine. READ MORE

  6. 44. New Insights in Adrenal Tumourigenesis

    Author : Rajani Maharjan; Peyman Björklund; Michaela Luconi; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cortisol producing adenomas; adrenocortical carcinomas; mutation; heterogeneity; PRKACA; TERT; CTNNB1; Molekylär genetik; Molecular Genetics;

    Abstract : Unilateral cortisol producing adenoma (CPA) is the most common cause of ACTH-independent Cushing’s syndrome and is surgically curable. On the other hand, adrenocortical carcinomas (ACCs) are rare and aggressive tumours. READ MORE

  7. 45. Glycerol kinase deficiency. Clinical, biochemical, and genetic aspects

    Author : Christina Hellerud; Göteborgs universitet; []
    Keywords : contiguous gene syndrome; diagnose; exercise; fasting; glucose deficit; glycerol; glycerol kinase deficiency; metabolism; molecular modelling; mRNA analysis; mutation; natural history; prognosis; splice-junction analysis; treatment; triglycerides;

    Abstract : Glycerol kinase deficiency (GKD, MIM 307030) is an X-linked recessive inborn error of metabolism occurring isolated or in an Xp contiguous gene syndrome with adrenal hypoplasia and/or Duchenne muscular dystrophy. The gene syndrome is due to deletions in the p21 region on the X chromosome. READ MORE