Petra Eskelin

Helsinki University Hospital — Finland

Medicine · Health Sciences

11h-index1.4kcitations14works0.02yr avg
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Research Topics

Adrenal Hormones and Disorders(10), Hormonal Regulation and Hypertension(8), Diabetes and associated disorders(5), Metabolism and Genetic Disorders(4), Mitochondrial Function and Pathology(2)

Publications14 total

Carrier Frequency of a Common Mutation of Carnitine Palmitoyltransferase 1A Deficiency and Long-Term Follow-Up in Finland
The Journal of Pediatrics·2011· 8 cited
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy – A common feature of the pregnancy complication?
Molecular Genetics and Metabolism·2010· 14 cited
Fatty Acid Oxidation Disorders
Encyclopedia of Life Sciences·2009· 4 cited
Functional interaction of AIRE with PIAS1 in transcriptional regulation
Molecular Immunology·2008· 37 cited
LCHAD and MTP Deficiencies - Two Disorders of Mitochondrial Fatty Acid β-Oxidation with Unusual Features
Current Pediatric Reviews·2007· 1 cited
Anti-Interferon Autoantibodies in Autoimmune Polyendocrinopathy Syndrome Type 1
PLoS Medicine·2006· 441 citedOpen Access
The monopartite nuclear localization signal of autoimmune regulator mediates its nuclear import and interaction with multiple importin α molecules
FEBS Journal·2005· 33 citedOpen Access
Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation
Human Mutation·2005· 59 cited
APECED-causing mutations in AIRE reveal the functional domains of the protein
Human Mutation·2004· 115 cited
Prevalence and Clinical Associations of 10 Defined Autoantibodies in Autoimmune Polyendocrine Syndrome Type I
The Journal of Clinical Endocrinology & Metabolism·2004· 235 cited
AIRE Mutations and Human Leukocyte Antigen Genotypes as Determinants of the Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Phenotype
The Journal of Clinical Endocrinology & Metabolism·2002· 202 citedOpen Access
Subcellular Location and Expression Pattern of Autoimmune Regulator (Aire), the Mouse Orthologue for Human Gene Defective in Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)
Journal of Histochemistry & Cytochemistry·2001· 95 cited
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway
Clinical Endocrinology·2001· 153 cited
The autoimmune regulator: a key toward understanding the molecular pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
The Keio Journal of Medicine·2001· 26 citedOpen Access

Frequent Co-authors

Maria Halonen(7), Ismo Ulmanen(6), Hannele Kangas(5), Eystein S. Husebye(4), Tanja Ilmarinen(4), Tiina Tyni(4), Jaakko Perheentupa(3), Fredrik Rorsman(3), Olle Kämpe(3), Meelis Kolmer(3), Anne Grethe Myhre(2), Olov Ekwall(2), Håkan Hedstrand(2), Leena Peltonen(2), Taina Rüppell(2), Padmini P. Polinati(2), Anthony Meager(1), Kumuthini Visvalingam(1), Pärt Peterson(1), Kaidi Möll(1)