TY  - JOUR
AU  - Brehm, Anja
AU  - Liu, Yin
AU  - Sheikh, Afzal
AU  - Marrero, Bernadette
AU  - Omoyinmi, Ebun
AU  - Zhou, Qing
AU  - Montealegre, Gina
AU  - Biancotto, Angelique
AU  - Reinhardt, Adam
AU  - Almeida de Jesus, Adriana
AU  - Pelletier, Martin
AU  - Tsai, Wanxia L
AU  - Remmers, Elaine F
AU  - Kardava, Lela
AU  - Hill, Suvimol
AU  - Kim, Hanna
AU  - Lachmann, Helen J
AU  - Megarbane, Andre
AU  - Chae, Jae Jin
AU  - Brady, Jilian
AU  - Castillo, Rhina D
AU  - Brown, Diane
AU  - Vera Casano, Angel
AU  - Gao, Ling
AU  - Chapelle, Dawn
AU  - Huang, Yan
AU  - Stone, Deborah
AU  - Chen, Yongqing
AU  - Sotzny, Franziska
AU  - Lee, Chyi-Chia Richard
AU  - Kastner, Daniel L
AU  - Torrelo, Antonio
AU  - Zlotogorski, Abraham
AU  - Moir, Susan
AU  - Gadina, Massimo
AU  - McCoy, Phil
AU  - Wesley, Robert
AU  - Rother, Kristina
AU  - Hildebrand, Peter W
AU  - Brogan, Paul
AU  - Krüger, Elke
AU  - Aksentijevich, Ivona
AU  - Goldbach-Mansky, Raphaela
PY  - 2015
DO  - 10.1172/JCI81260
SN  - 0021-9738
UR  - http://hdl.handle.net/10668/2213
T2  - The Journal of Clinical Investigation
AB  - Autosomal recessive mutations in proteasome subunit β 8 (PSMB8), which encodes the inducible proteasome subunit β5i, cause the immune-dysregulatory disease chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE),...
LA  - en
PB  - American Society for Clinical Investigation
KW  - Células cultivadas
KW  - Fibroblastos
KW  - Regulación de la expresión génica
KW  - Genotipo
KW  - Enfermedades autoinflamatorias hereditarias
KW  - Secuencia de aminoácidos
KW  - Interferón de tipo I
KW  - Modelos moleculares
KW  - Chaperonas moleculares
KW  - Datos de Secuencia Molecular
KW  - Mutación
KW  - Mutación de sentido erróneo
KW  - Linaje
KW  - Fenotipo
KW  - Complejo de endopeptidasas de los proteasomas
KW  - Conformación de proteínas
KW  - Subunidades de proteínas
KW  - Interferencia por ARN
KW  - Alineación de secuencias
KW  - Deleción de secuencias
KW  - Homología de secuencias de aminoácidos
KW  - Síndrome
KW  - Transcripción genética
KW  - Medical Subject Headings::Anatomy::Cells::Cells, Cultured
KW  - Medical Subject Headings::Anatomy::Cells::Connective Tissue Cells::Fibroblasts::Myofibroblasts
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
KW  - Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Hereditary Autoinflammatory Diseases
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Chemicals and Drugs::Biological Factors::Intercellular Signaling Peptides and Proteins::Interferons::Interferon Type I
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Models, Theoretical::Models, Molecular
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Molecular Chaperones
KW  - Medical Subject Headings::Information Science::Information Science::Information Services::Documentation::Molecular Sequence Data
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Pedigree
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
KW  - Medical Subject Headings::Chemicals and Drugs::Macromolecular Substances::Multiprotein Complexes::Multienzyme Complexes::Proteasome Endopeptidase Complex
KW  - Medical Subject Headings::Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Molecular Structure::Molecular Conformation::Protein Conformation
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Protein Subunits
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation::Epigenesis, Genetic::Gene Silencing::RNA Interference
KW  - Medical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Untranslated::RNA, Small Untranslated::RNA, Small Interfering
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Alignment
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation::Sequence Deletion
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Sequence Homology::Sequence Homology, Amino Acid
KW  - Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease::Syndrome
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression::Transcription, Genetic
KW  - Medical Subject Headings::Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Molecular Structure::Amino Acid Sequence
TI  - Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
TY  - research article
ER  -