Výsledky vyhledávání - "Maarit Heino"

Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED

Autor: Jan Lebl, Valentin Fadeyev, Pärt Peterson, Anatoly Tiulpakov, Daniela Cihakova, Sameh Tawfik, Peter Blümel, Kai Krohn, Maarit Heino, Katarina Trebusak, Tadej Battelino, Zita Halász, Attila Tar

Publikováno v: Human Mutation. 18:225-232

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive disorder that results in several autoimmune diseases due to the mutations in the AIRE (autoimmune regulator) gene. APECED patients develop several autoimmune

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2c9c8cceb5530d1b4dd2ed72e59cc23d
https://doi.org/10.1002/humu.1178

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Isolation and Initial Characterization of a Novel Zinc Finger Gene, DNMT3L, on 21q22.3, Related to the Cytosine-5- Methyltransferase 3 Gene Family

Autor: Kazunori Shibuya, Juha Ollila, Jun Kudoh, Ai Shintani, Maarit Heino, Nobuyoshi Shimizu, Mauno Vihinen, Hamish S. Scott, Pärt Peterson, Shinsei Minoshima, Ulla Aapola, Kai Krohn, Stylianos E. Antonarakis, Kazuhiko Kawasaki

Publikováno v: Genomics, Vol. 65, No 3 (2000) pp. 293-298

We have isolated the DNMT3L gene that is related to the cytosine-5-methyltransferase 3 (DNMT3) family. The gene is located on chromosome 21q22.3 between the AIRE and the KIAA0653 genes and spans approximately 16 kb of genomic sequence. The encoded pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77b23958df0f3970bdb586da0411c986
https://doi.org/10.1006/geno.2000.6168

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Autoimmune Regulator Is Expressed in the Cells Regulating Immune Tolerance in Thymus Medulla

Autor: Vladimir Ovod, A Ranki, Stylianos E. Antonarakis, Immo Rantala, Juha Tuukkanen, Markku Nieminen, Kentaro Nagamine, Hamish S. Scott, Anssi Lagerstedt, Pärt Peterson, Kai Krohn, Maarit Heino, Nobuyoshi Shimizu, Jun Kudoh

Publikováno v: Biochemical and Biophysical Research Communications, Vol. 257, No 3 (1999) pp. 821-825

The AIRE gene (autoimmune regulator), coding for a putative transcriptional regulatory factor, is mutated in autoimmune-polyendocrinopathy-candidiasis ectodermal dystrophy (APECED). We have investigated the expression of the AIRE gene by mRNA in situ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bcc06bec88917b3f3ffebd0229d3e8e
https://doi.org/10.1006/bbrc.1999.0308

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Isolation and Characterization of the MouseAireGene

Autor: Jun Kudoh, Stylianos E. Antonarakis, Colette Rossier, Hamish S. Scott, Kai Krohn, Lauréane Mittaz, Michael A. Morris, Arnaud Gos, Pärt Peterson, Maarit Heino, Nobuyoshi Shimizu

Publikováno v: Biochemical and Biophysical Research Communications, Vol. 255, No 2 (1999) pp. 483-490

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder characterized by Addison's disease and/or hypoparathyroidism and/or chronic mucocutaneous candidiasis. Patients may also have other clinica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48a389502b47a170b41488d2f1783c8a
https://doi.org/10.1006/bbrc.1999.0223

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Positional cloning of the APECED gene

Autor: Stylianos E. Antonarakis, Kazuhiko Kawasaki, Maarit Heino, Hamish S. Scott, Nobuyoshi Shimizu, Shuichi Asakawa, Maria D. Lalioti, Kentaro Nagamine, Primus E. Mullis, Shinsei Minoshima, Fumiaki Ito, Pärt Peterson, Kai Krohn, Jun Kudoh

Publikováno v: Scopus-Elsevier
Nature Genetics, Vol. 17, No 4 (1997) pp. 393-398

Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human chromosome 21q22.3 between markers D21S49 and D21S171 by linkage studies. We have isolated a novel gene from this region, AIRE

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8a6c8a8e5b14253107096e4d48c14b
https://doi.org/10.1038/ng1297-393

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Immunochemical Characterization of a Novel Mitochondrially Located Protein Encoded by a Nuclear Gene within the DFNB8/10 Critical Region on 21q22.3

Autor: Pekka Vilja, Jorma Isola, Kai Krohn, Maarit Heino, Hamish S. Scott, Howard T. Jacobs, Vladimir Ovod, Despina S. Kyriakou, Stylianos E. Antonarakis, Pärt Peterson

Publikováno v: Biochemical and Biophysical Research Communications, Vol. 238, No 3 (1997) pp. 806-810

A novel protein encoded by the C210RF2 gene in chromosomal locus 21q22.3 was characterized by immunochemistry. This chromosomal region is known to contain genes for human diseases such as non-syndromic autosomal recessive deafness (DFNB8/10) and auto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a1fbb8520a540a053e75fafbdb6ccdd
https://doi.org/10.1006/bbrc.1997.7352

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Mutation analyses of North American APS-1 patients

Autor: Pärt Peterson, Lauréane Mittaz, U. Maebpaa, Marie Pierre Papasavvas, Q. Chen, Noel K. Maclaren, Kai Krohn, Stylianos E. Antonarakis, Jun Kudoh, Maarit Heino, Christine Barras, Nobuyoshi Shimizu, Hamish S. Scott, Colette Rossier, Kentaro Nagamine, Constantine A. Stratakis, George P. Chrousos

Publikováno v: Human Mutation, Vol. 13, No 1 (1999) pp. 69-74

Autoimmune polyendocrinopathy syndrome type 1 (APS-1; MIM# 240300) is a rare autosomal recessively inherited disease characterised by destructive autoimmune diseases of endocrine glands. The gene responsible for APS-1, known as AIRE (for autoimmune r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e532b95716e56ee70fc98f2f263f363e
https://archive-ouverte.unige.ch/unige:8800

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APECED: a monogenic autoimmune disease providing new clues to self-tolerance

Autor: Jun Kudoh, Kentaro Nagamine, Kai Krohn, Hamish S. Scott, Pärt Peterson, Maarit Heino, Nobuyoshi Shimizu, Stylianos E. Antonarakis

Publikováno v: Immunology Today, Vol. 19, No 9 (1998) pp. 384-386

The cloning of AIRE , the gene for autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) promises to unravel some of the mysteries of autoimmunity. Here, Part Peterson and colleagues discuss recent studies of AIRE and the implic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf9e2472acfa1ab93c32272fcbbdd998
https://pubmed.ncbi.nlm.nih.gov/9745199

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Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis

Autor: Colette Rossier, Despina S. Kyriakou, Stylianos E. Antonarakis, Hamish S. Scott, Marja Tähtinen, Maarit Heino, Pärt Peterson, Maria D. Lalioti, Haiming Chen, Kai Krohn

Publikováno v: Genomics, Vol. 47, No 1 (1998) pp. 64-70

Exon trapping was performed from a partial cosmid, PAC, and P1 clone contig from human chromosome 21 between MX1 and 21qter to identify genes that may be involved in the pathogenesis of Down syndrome or several of the genetic diseases that map to chr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61be0b6fd66634b7eaef564afc746007
https://archive-ouverte.unige.ch/unige:9030

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Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins

Publikováno v: Molecular Endocrinology, Vol. 12, No 8 (1998) pp. 1112-1119
Scopus-Elsevier

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; OMIM *240300, also called APS 1,) is a rare autosomal recessive disorder that is more frequent in certain isolated populations. It is generally characterized by two of the three

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f37a364996a15c5213554eb14c7a32
https://archive-ouverte.unige.ch/unige:9028

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