Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Petra Björses"'
Autor:
Mikhail Gylling, Petra Björses, Mikael Knip, Sirkka Kontiainen, Jukka Partanen, Aaro Miettinen, Michael R. Christie, Jaakko Perheentupa, Tiinamaija Tuomi
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 85:4434-4440
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by lack of functional products of the autoimmune regulator gene located on chromosome 21q22.3. The patients are at high risk of developing insulin-dependent (type 1) di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67cfe4822915c7ec011fa5c6931918dd
https://doi.org/10.1210/jcem.85.12.7120
https://doi.org/10.1210/jcem.85.12.7120
Autor:
Maria Halonen, Fredrik Rorsman, Olle Kämpe, Olov Ekwall, Petra Björses, Eystein S. Husebye, Annika Söderbergh
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 85:460-463
Autoantibodies against aromatic l-amino acid decarboxylase (AADC) are present in about 50 percent of sera from patients with autoimmune polyendocrine syndrome type I (APS I) but absent in sera from patients with different organ-specific autoimmune di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::92f4496d30054fb7634b34b31337d23b
https://doi.org/10.1210/jcem.85.1.6266
https://doi.org/10.1210/jcem.85.1.6266
Publikováno v:
Human Molecular Genetics. 7:1547-1553
The molecular background of human autoimmunity is poorly understood. Although many autoimmune diseases have a genetic basis, the actual disease appearance results from a complex interplay between genes and environment and thus these diseases represen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67c9a981ffaf491dbd3f81c53dc3347e
https://doi.org/10.1093/hmg/7.10.1547
https://doi.org/10.1093/hmg/7.10.1547
Autor:
Hans Leharach, Petra Björses, Fiona Francis, Cora S. Thiel, Nina Horelli–Kuitunen, Leena Peltonen, Jaakko Perheentupa, Marie-Laure Yaspo, Aarno Palotie, Johanna Aaltonen, Yeon Su Lee, Steffen Henning
Publikováno v:
Nature Genetics. 17:399-403
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the only described systemic autoimmune disease with established monogenic background, and the first autoimmune disorder localized outside the major histocompatibility complex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d813c6e7845d481ae0f5b97ca3cbf6e
https://doi.org/10.1038/ng1297-399
https://doi.org/10.1038/ng1297-399
Publikováno v:
Nature Genetics. 8:83-87
Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease characterized by a variable combination of the failure of the endocrine glands. The pathogenesis of this unique autoimmune disease is unknown; unlike many o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e9b266a576906ea9f792ccc131a1631
https://doi.org/10.1038/ng0994-83
https://doi.org/10.1038/ng0994-83
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 83:4204-4206
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75460f6ee75197b2a431a183a67ffada
https://doi.org/10.1210/jcem.83.12.5332
https://doi.org/10.1210/jcem.83.12.5332
Autor:
N Rautonen, Outi Vaarala, Jaakko Perheentupa, Petra Björses, Jorma Ilonen, Jukka Partanen, Ari Hinkkanen, Paula Klemetti, Tiinamaija Tuomi
SUMMARY Antibodies to glutamic acid decarboxylase (GAD) occur frequently in patients with APECED, although clinical insulin-dependent diabetes mellitus (IDDM) is seen only in a subgroup of the patients. We studied the cellular immunity to GAD, antibo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b711f3fdfcf749ffe0ccf0950eca844f
https://europepmc.org/articles/PMC1905591/
https://europepmc.org/articles/PMC1905591/
Autor:
Petra Björses, Johanna Aaltonen
Publikováno v:
Annals of medicine. 31(2)
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the only autoimmune disease characterized so far that is caused by a defect in a single gene. We have recently isolated the defective gene in this disease by positional clonin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d15fbc12a6f326973028a3dd9e570831
https://pubmed.ncbi.nlm.nih.gov/10344583
https://pubmed.ncbi.nlm.nih.gov/10344583
Autor:
Ismo Ulmanen, Johanna Aaltonen, Markku Pelto-Huikko, Leena Peltonen, Jaakko Kaukonen, Petra Björses
Publikováno v:
Human molecular genetics. 8(2)
Autoimmune-polyendocrinopathy-candidiasis-ecto-dermaldystrophy (APECED) is the only systemic autoimmune disease with a monogenic background known so far revealing no association with the major histocompatibility complex region. We have recently isola
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddb8f18adbc03a7142f82c0c159ad908
https://pubmed.ncbi.nlm.nih.gov/9931333
https://pubmed.ncbi.nlm.nih.gov/9931333
Autor:
Jaakko Perheentupa, Petra Björses, Leena Peltonen, Nina Horelli-Kuitunen, Richard M. Myers, Jian Bing Fan, Johanna Aaltonen, Aarno Palotie
Publikováno v:
Genome research. 7(8)
Autoimmune–polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED, PGD type I) is an autosomal recessive disease enriched in the Finnish population. Previously, we have assigned APECED to a 2.6-cM interval on chromosome 21q22.3 by linkage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2632a1da7a21f288daf3a8add685ebab
https://pubmed.ncbi.nlm.nih.gov/9267805
https://pubmed.ncbi.nlm.nih.gov/9267805