نتائج البحث - "Meri, Kaustio"

1

دورية أكاديمية

Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis

المؤلفون: Miia Perälä, Meri Kaustio, Alexander Salava, Eveliina Jakkula, Anna S. Pelkonen, Janna Saarela, Anita Remitz, Mika J. Mäkelä

المصدر: JID Innovations, Vol 3, Iss 4, Pp 100203- (2023)

مصطلحات موضوعية: Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667026723000267; https://doaj.org/toc/2667-0267

URL الوصول: https://doaj.org/article/ec37ca17973a4ca79b1527272d1e6353

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2

دورية أكاديمية

Identification of novel regulators of STAT3 activity.

المؤلفون: Elina Parri, Heikki Kuusanmäki, Arjan J van Adrichem, Meri Kaustio, Krister Wennerberg

المصدر: PLoS ONE, Vol 15, Iss 3, p e0230819 (2020)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f4e1fb44dd3548b2a5331ee6a4b73ca5

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3

Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae

المؤلفون: Elina A. Tuovinen, Outi Kuismin, Leila Soikkonen, Timi Martelius, Meri Kaustio, Sari Hämäläinen, Hanna Viskari, Jaana Syrjänen, Ulla Wartiovaara-Kautto, Kari K. Eklund, Janna Saarela, Markku Varjosalo, Juha Kere, Timo Hautala, Mikko R.J. Seppänen

المساهمون: Tampere University, Department of Internal medicine, BioMediTech, Clinical Medicine, TRIMM - Translational Immunology Research Program, HUS Children and Adolescents, Children's Hospital, Infektiosairauksien yksikkö, HUS Inflammation Center, Helsinki University Hospital Area, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, HUS Comprehensive Cancer Center, Clinicum, Department of Clinical Chemistry and Hematology, Hematologian yksikkö, Department of Medicine, Reumatologian yksikkö, HUSLAB, Doctoral Programme in Integrative Life Science, Janna Saarela / Principal Investigator, University of Helsinki, Molecular Systems Biology, Institute of Biotechnology, Biosciences, STEMM - Stem Cells and Metabolism Research Program, Juha Kere / Principal Investigator, Research Programs Unit

مصطلحات موضوعية: NFKB1, Hypogammaglobulinemia, Immunology, Autoinflammation, 1184 Genetics, developmental biology, physiology, Immunology and Allergy, Inborn errors of immunity, 3121 Internal medicine, Common variable immunodeficiency

وصف الملف: fulltext

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec5d589bf29376b68540b34e38b32b5c
https://trepo.tuni.fi/handle/10024/145528

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4

Inflammation and neutrophil oxidative burst in a family with NFKB1 p.R157X LOF and sterile necrotizing fasciitis

المؤلفون: Wenny Santaniemi, Pirjo Åström, Virpi Glumoff, Nora Pernaa, Ella-Noora Tallgren, Sanna Palosaari, Antti Nissinen, Meri Kaustio, Outi Kuismin, Janna Saarela, Katariina Nurmi, Kari K. Eklund, Mikko R. J. Seppänen, Timo Hautala

مصطلحات موضوعية: Immunology, Immunology and Allergy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2482defdbbc9bfe21e6acdaa969094e6
http://urn.fi/urn:nbn:fi-fe2023052648387

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Loss-of-function mutation in

المصدر: Science immunology. 6(65)

مصطلحات موضوعية: Adult, Male, Ikaros Transcription Factor, Young Adult, Humans, Female, Middle Aged, Germinal Center, Mucosal-Associated Invariant T Cells, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::653382fc70b384af21c884f81f1d52d3
https://pubmed.ncbi.nlm.nih.gov/34826260

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Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells

مصطلحات موضوعية: 0303 health sciences, Lymphocyte, T cell, Germinal center, Biology, medicine.disease, IKZF3, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Immune system, medicine.anatomical_structure, Immunology, Primary immunodeficiency, medicine, CD8, Immunodeficiency, 030304 developmental biology, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::de462bc93bc0f7f14249247ed95d486b
https://doi.org/10.1101/2021.08.25.21262015

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دورية أكاديمية

Functional characterization of the infection-inducible peptide Edin in Drosophila melanogaster.

المؤلفون: Leena-Maija Vanha-Aho, Anni Kleino, Meri Kaustio, Johanna Ulvila, Bettina Wilke, Dan Hultmark, Susanna Valanne, Mika Rämet

المصدر: PLoS ONE, Vol 7, Iss 5, p e37153 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3351453?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/d7ecac3ea86f4f1ba47dc384a68bdb63

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8

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

المؤلفون: Sari Hämäläinen, Mikko Seppänen, Maija Lepistö, Aarno Palotie, Kimmo Porkka, Timo Hautala, Henrikki Almusa, Hanna Viskari, Luca Trotta, Jaana Syrjänen, Meri Kaustio, Janna Saarela

المساهمون: Institute for Molecular Medicine Finland, Clinicum, Department of Medicine, Hematologian yksikkö, Department of Oncology, Aarno Palotie / Principal Investigator, Children's Hospital, Lastentautien yksikkö, Janna Saarela / Principal Investigator, HUS Children and Adolescents, Genomics of Neurological and Neuropsychiatric Disorders

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, FINNISH-DISEASE HERITAGE, 030105 genetics & heredity, PHENOTYPE, Hyper-IgM Immunodeficiency Syndrome, Identity by descent, Gene Frequency, Activation-induced (cytidine) deaminase, AID, INDUCED CYTIDINE DEAMINASE, HUMAN GENOME, Child, Genetics (clinical), Exome sequencing, Finland, Genetics, education.field_of_study, Homozygote, 1184 Genetics, developmental biology, physiology, Founder Effect, 3. Good health, Pedigree, DEFICIENCY, CARTILAGE-HAIR HYPOPLASIA, Female, Adult, Heterozygote, Population, Biology, Article, 03 medical and health sciences, GENETIC-ANALYSIS, Cytidine Deaminase, medicine, Humans, TOLERANCE, education, Allele frequency, Haplotype, Infant, medicine.disease, 030104 developmental biology, Hyper-IgM syndrome type 2, Haplotypes, Mutation, biology.protein, UPDATE, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine, Founder effect