Petra M Eskelin

发表

Aire deficient mice develop multiple features of APECED phenotype and show altered immune response.

L. Peltonen, Aune Moro, M. Pelto-huikko, 2002, Human molecular genetics.

Anti-Interferon Autoantibodies in Autoimmune Polyendocrinopathy Syndrome Type 1

P. Peterson, A. Meager, P. Eskelin, 2006, PLoS medicine.

AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.

L. Peltonen, J. Partanen, M. Halonen, 2002, The Journal of clinical endocrinology and metabolism.

The autoimmune regulator: a key toward understanding the molecular pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

M. Pelto-huikko, M. Halonen, H. Kangas, 2001, The Keio journal of medicine.

APECED‐causing mutations in AIRE reveal the functional domains of the protein

M. Vihinen, J. Ollila, J. Palvimo, 2004, Human mutation.

Autoimmune polyendocrine syndrome type 1 (APS I) in Norway

M. Halonen, P. Eskelin, E. Husebye, 2001, Clinical endocrinology.

Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation

M. Halonen, H. Kangas, I. Ulmanen, 2005, Human mutation.

Subcellular Location and Expression Pattern of Autoimmune Regulator (Aire), the Mouse Orthologue for Human Gene Defective in Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)

L. Peltonen, M. Pelto-huikko, I. Ulmanen, 2001, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Functional interaction of AIRE with PIAS1 in transcriptional regulation.

J. Seeler, J. Saharinen, J. Palvimo, 2008, Molecular immunology.

Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I.

M. Manns, T. Tuomi, A. Miettinen, 2004, The Journal of clinical endocrinology and metabolism.

Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.

P. Eskelin, L. Euro, T. Tyni, 2012, The Journal of pediatrics.

The monopartite nuclear localization signal of autoimmune regulator mediates its nuclear import and interaction with multiple importin α molecules

H. Kangas, I. Ulmanen, T. Ilmarinen, 2006, The FEBS journal.

Fatty Acid Oxidation Disorders

P. Eskelin, T. Tyni, Padmini P. Polinati, 2001 .