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Hittade 5 avhandlingar som matchar ovanstående sökkriterier.

1. 1. Alopecia and vitiligo in autoimmune polyendocrine syndrome type I

   Författare :Håkan Hedstrand; Uppsala universitet; []
   Nyckelord :Medical sciences; APS I; autoantigen; vitiligo; alopecia areata; cDNA-library; immunoscreening; tyrosine hydroxylase; SOX9; SOX10; molecular mimicry; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

   Sammanfattning : Autoimmune polyendocrine syndrome type I (APS I) is a recessively inherited disease caused by mutations in a recently identified gene, AIRE, on human chromosome 21. APS I patients are affected by autoimmune destruction of multiple endocrine glands and other organs as well as ectodermal structures. LÄS MER

3. 2. Pteridine dependent hydroxylases as autoantigens in autoimmune polyendocrine syndrome type 1

   Författare :Olov Ekwall; Uppsala universitet; []
   Nyckelord :Medical sciences; APS I; alopecia; autoantigen; cDNA; malabsorption; phenylalanine hydroxylase; pteridine; tryptophan hydroxylase; tyrosine hydroxylase; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Medicine; medicin;

   Sammanfattning : Autoimmune polyendocrine syndrome type I (APS) is a monogenous, recessively inherited disease characterised by endocrine and non-endocrine autoimmune manifestations. One fifth of APS I patients suffer from periodic intestinal dysfunction with varying degrees of malabsorbtion, steatorrhea and constipation. LÄS MER

4. 3. Autoantigens in Inflammatory Bowel Disease and Primary Sclerosing Cholangitis

   Författare :Brita Ardesjö; Olov Ekwall; Olle Kämpe; Fredrik Rorsman; Eric Gershwin; Uppsala universitet; []
   Nyckelord :Molecular medicine; inflammatory bowel disease; primary sclerosing cholangitis; autoimmunity; autoantigen; goblet cell; Molekylärmedicin;

   Sammanfattning : Inflammatory bowel disease (IBD) comprises diseases that are characterized by chronic or relapsing inflammation of the gastrointestinal tract. Primary sclerosing cholangitis (PSC) is an extraintestinal manifestation in IBD. LÄS MER

5. 4. Pituitary autoantibodies in endocrine disorders

   Författare :Sophie Bensing; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Lymphocytic hypophysitis; hypopituitarism; empty sella syndrome; APS 1; autoantibodies; autoantigen; Secretogranin II; TDRD6.;

   Sammanfattning : Autoimmune endocrine disorders are characterised by the development of autoantibodies to specific autoantigens in the target organs. Lymphocytic hypophysitis (LyH) is a disease characterised by inflammation of the pituitary gland, often resulting in hypopituitarism. The aetiology of LyH is considered to be autoimmune. LÄS MER

7. 5. Molecular aspects of parathyroid tumorigenesis : with focus on parafibromin and the Wnt pathway

   Författare :Christofer Juhlin; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Primary hyperparathyroidism (PHPT) denotes the tumorous enlargement of one or several parathyroid glands and constitutes a common disorder, particularly pronounced among postmenopausal women. PHPT patients display hypercalcemia as a consequence of parathyroid hormone hypersecretion, and the symptomatology is habitually based on this metabolic aberrancy. LÄS MER