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1. Full Text Activation and function of the mTORCl pathway in mast cells
by Kim, Mi-Sun and Kuehn, Hye Sun and Metcalfe, Dean D and Gilfillan, Alasdair M
Journal of Immunology, ISSN 0022-1767, 04/2008, Volume 180, Issue 7, pp. 4586 - 4595
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2. Full Text EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
by Volpi, Stefano and Yamazaki, Yasuhiro and Brauer, Patrick M and van Rooijen, Ellen and Hayashida, Atsuko and Slavotinek, Anne and Sun Kuehn, Hye and Di Rocco, Maja and Rivolta, Carlo and Bortolomai, Ileana and Du, Likun and Felgentreff, Kerstin and Ott de Bruin, Lisa and Hayashida, Kazutaka and Freedman, George and Marcovecchio, Genni Enza and Capuder, Kelly and Rath, Prisni and Luche, Nicole and Hagedorn, Elliott J and Buoncompagni, Antonella and Royer-Bertrand, Beryl and Giliani, Silvia and Poliani, Pietro Luigi and Imberti, Luisa and Dobbs, Kerry and Poulain, Fabienne E and Martini, Alberto and Manis, John and Linhardt, Robert J and Bosticardo, Marita and Rosenzweig, Sergio Damian and Lee, Hane and Puck, Jennifer M and Zúñiga-Pflücker, Juan Carlos and Zon, Leonard and Park, Pyong Woo and Superti-Furga, Andrea and Notarangelo, Luigi D
The Journal of experimental medicine, 03/2017, Volume 214, Issue 3, p. 623
We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense... 
Immunologic Deficiency Syndromes - etiology | Developmental Disabilities - etiology | Humans | Heparitin Sulfate - physiology | Child, Preschool | N-Acetylglucosaminyltransferases - genetics | Infant | Zebrafish | Lymphocytes - physiology | Animals | Female | Mutation | Induced Pluripotent Stem Cells - cytology | Bone Diseases, Developmental - etiology
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3. Full Text Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
by Kuehn, Hye Sun and Ouyang, Weiming and Lo, Bernice and Deenick, Elissa K and Niemela, Julie E and Avery, Danielle T and Schickel, Jean-Nicolas and Tran, Dat Q and Stoddard, Jennifer and Zhang, Yu and Frucht, DavidM and Dumitriu, Bogdan and Scheinberg, Phillip and Folio, Les R and Frein, Cathleen A and Price, Susan and Koh, Christopher and Heller, Theo and Seroogy, ChristineM and Huttenlocher, Anna and Rao, V. Koneti and Su, Helen C and Kleiner, David and Notarangelo, Luigi D and Rampertaap, Yajesh and Olivier, Kenneth N and McElwee, Joshua and Hughes, Jason and Pittaluga, Stefania and Oliveira, Joao B and Meffre, Eric and Fleisher, Thomas A and Holland, Steven M and Lenardo, Michael J and Tangye, Stuart G and Uzel, Gulbu
Science, ISSN 0036-8075, 09/2014, Volume 345, Issue 6204, pp. 1623 - 1627
Cytotoxic T lymphocyte antigen-4 (CTLA-4) is an inhibitory receptor found on immune cells. The consequences of mutations in CTLA4 in humans are unknown. We... 
B-CELLS | METASTATIC MELANOMA | LYMPHOPROLIFERATION | ACTIVATION | TOLERANCE | MULTIDISCIPLINARY SCIENCES | REGULATORY T-CELLS | COMMON VARIABLE IMMUNODEFICIENCY | MECHANISMS | ACCUMULATION | AUTOIMMUNE-DISEASE | Forkhead Transcription Factors - immunology | Immune System Diseases - genetics | Humans | CTLA-4 Antigen - genetics | Male | Haploinsufficiency | T-Lymphocytes, Regulatory - immunology | Young Adult | Animals | B-Lymphocytes - immunology | Mice, Mutant Strains | Pedigree | Germ-Line Mutation | Adult | Female | Mice | Immunity - genetics | Antigens | Immune response | Lymphocytes | Physiological aspects | Regulation | Research | Mutation (Biology) | Immunological research | Lymphocyte receptors | Mutation | Immune system | Immune systems | Proteins | Mutations | Government regulations | Organs | Genetics | Patients
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4. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease
by Qing Zhou and Xiaomin Yu and Erkan Demirkaya and Natalie Deuitch and Deborah Stone and Wanxia Li Tsai and Hye Sun Kuehn and Hongying Wang and Dan Yang and Yong Hwan Park and Amanda K Ombrello and Mary Blake and Tina Romeo and Elaine F Remmers and Jae Jin Chae and James C Mullikin and Ferhat Güzel and Joshua D Milner and Manfred Boehm and Sergio D Rosenzweig and Massimo Gadina and Steven B Welch and Seza Özen and Rezan Topaloglu and Mario Abinun and Daniel L Kastner and Ivona Aksentijevich
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 09/2016, Volume 113, Issue 36, p. 10127
  Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by... 
Molecules | Cytokines | Genes | Mutation | Cells
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5. Full Text Glycogen synthase kinase 3β activation is a prerequisite signal for cytokine production and chemotaxis in human mast cells
by Rådinger, Madeleine and Kuehn, Hye Sun and Kim, Mi-Sun and Metcalfe, Dean D and Gilfillan, Alasdair M
Journal of Immunology, ISSN 0022-1767, 01/2010, Volume 184, Issue 2, pp. 564 - 572
In addition to regulating mast cell homeostasis, the activation of KIT following ligation by stem cell factor promotes a diversity of mast cell responses,... 
FACTOR-RECEPTOR | MIGRATION | RICTOR-MTOR COMPLEX | SUBSTRATE-SPECIFICITY | FC-EPSILON-RI | PHOSPHORYLATION | GROWTH | C-KIT | GSK-3 | PROTEIN-TYROSINE KINASE | IMMUNOLOGY
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6. Full Text Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease
by Qing Zhou and Xiaomin Yu and Erkan Demirkaya and Natalie Deuitch and Deborah Stone and Wanxia Li Tsai and Hye Sun Kuehn and Hongying Wang and Dan Yang and Yong Hwan Park and Amanda K. Ombrello and Mary Blake and Tina Romeo and Elaine F. Remmers and Jae Jin Chae and James C. Mullikin and Ferhat Güzel and Joshua D. Milner and Manfred Boehm and Sergio D. Rosenzweig and Massimo Gadina and Steven B. Welch and Seza Özen and Rezan Topaloglu and Mario Abinun and Daniel L. Kastner and Ivona Aksentijevich
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2016, Volume 113, Issue 36, pp. 10127 - 10132
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by... 
Autoinflammatory disease | Cytokines | Nf-κb pathway | Linear deubiquitinase | OTULIN | ACTIVATION | AMYLOPECTINOSIS | NF-kappa B pathway | UBIQUITIN | MULTIDISCIPLINARY SCIENCES | linear deubiquitinase | ASSEMBLY COMPLEX | CELL-DEATH | HOIP | SHARPIN | autoinflammatory disease | INFLAMMATION | LUBAC DEFICIENCY | cytokines | IMMUNODEFICIENCY | Fibroblasts - enzymology | Humans | NF-kappa B - immunology | Child, Preschool | Male | Fever - physiopathology | Leukocytes, Mononuclear - immunology | HEK293 Cells | Female | Child | Cytokines - genetics | Failure to Thrive - physiopathology | Hereditary Autoinflammatory Diseases - pathology | Cytokines - immunology | Dermatitis - physiopathology | Signal Transduction | Hereditary Autoinflammatory Diseases - enzymology | Gene Expression Regulation | Ubiquitin - genetics | Endopeptidases - deficiency | Hereditary Autoinflammatory Diseases - diagnosis | Fibroblasts - pathology | Endopeptidases - immunology | Leukocytes, Mononuclear - pathology | Endopeptidases - genetics | NF-kappa B - genetics | Pedigree | Age of Onset | Alleles | Fibroblasts - immunology | Leukocytes, Mononuclear - enzymology | Panniculitis - physiopathology | Consanguinity | Mutation | Ubiquitin - immunology | Hereditary Autoinflammatory Diseases - genetics | Allelomorphism | Genetic aspects | Gene mutations | Autoimmune diseases | Health aspects | Biological Sciences | NF-κB pathway
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7. Full Text Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
by Kreins, Alexandra Y and Ciancanelli, Michael J and Okada, Satoshi and Kong, Xiao-Fei and Ramírez-Alejo, Noé and Kilic, Sara Sebnem and El Baghdadi, Jamila and Nonoyama, Shigeaki and Mahdaviani, Seyed Alireza and Ailal, Fatima and Bousfiha, Aziz and Mansouri, Davood and Nievas, Elma and Ma, Cindy S and Rao, Geetha and Bernasconi, Andrea and Kuehn, Hye Sun and Niemela, Julie and Stoddard, Jennifer and Deveau, Paul and Cobat, Aurelie and Azbaoui, Safa El and Sabri, Ayoub and Lim, Che Kang and Sundin, Mikael and Avery, Danielle T and Halwani, Rabih and Grant, Audrey V and Boisson, Bertrand and Bogunovic, Dusan and Itan, Yuval and Moncada-Velez, Marcela and Martinez-Barricarte, Ruben and Migaud, Melanie and Deswarte, Caroline and Alsina, Laia and Kotlarz, Daniel and Klein, Christoph and Muller-Fleckenstein, Ingrid and Fleckenstein, Bernhard and Cormier-Daire, Valerie and Rose-John, Stefan and Picard, Capucine and Hammarstrom, Lennart and Puel, Anne and Al-Muhsen, Saleh and Abel, Laurent and Chaussabel, Damien and Rosenzweig, Sergio D and Minegishi, Yoshiyuki and Tangye, Stuart G and Bustamante, Jacinta and Casanova, Jean-Laurent and Boisson-Dupuis, Stéphanie
Journal of Experimental Medicine, ISSN 0022-1007, 2015, Volume 212, Issue 10, pp. 1641 - 1662
Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of... 
MEDICINE, RESEARCH & EXPERIMENTAL | INTERFERON-ALPHA/BETA | PARTIAL IMPAIRMENT | CYTOKINE RESPONSES | IFN-GAMMA | B10.Q/J MICE | MENDELIAN SUSCEPTIBILITY | PROTEIN-TYROSINE KINASE | CLINICAL-FEATURES | IMMUNOLOGY | INBORN-ERRORS | SIGNAL TRANSDUCER | Job Syndrome - genetics | Humans | TYK2 Kinase - metabolism | Child, Preschool | Infant | Male | TYK2 Kinase - deficiency | Interferon-gamma - metabolism | Case-Control Studies | Young Adult | T-Lymphocytes - metabolism | Female | T-Lymphocytes - pathology | Child | Interleukin-12 - pharmacology | Mycobacterium Infections - etiology | Interleukin-12 - metabolism | Virus Diseases - etiology | Interleukin-23 - pharmacology | Interleukin-6 - pharmacology | Job Syndrome - complications | Adolescent | Leukocytes - drug effects | Mutation | TYK2 Kinase - genetics | Interleukin-10 - pharmacology | Leukocytes - metabolism | Job Syndrome - etiology
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8. Full Text CARD9-Dependent Neutrophil Recruitment Protects against Fungal Invasion of the Central Nervous System
by Drummond, Rebecca A and Collar, Amanda L and Swamydas, Muthulekha and Rodriguez, Carlos A and Lim, Jean K and Mendez, Laura M and Fink, Danielle L and Hsu, Amy P and Zhai, Bing and Karauzum, Hatice and Mikelis, Constantinos M and Rose, Stacey R and Ferre, Elise M. N and Yockey, Lynne and Lemberg, Kimberly and Kuehn, Hye Sun and Rosenzweig, Sergio D and Lin, Xin and Chittiboina, Prashant and Datta, Sandip K and Belhorn, Thomas H and Weimer, Eric T and Hernandez, Michelle L and Hohl, Tobias M and Kuhns, Douglas B and Lionakis, Michail S
PLoS Pathogens, ISSN 1553-7366, 2015, Volume 11, Issue 12, p. e1005293
Candida is the most common human fungal pathogen and causes systemic infections that require neutrophils for effective host defense. Humans deficient in the... 
INFECTIONS | CANDIDIASIS | MICROBIOLOGY | MENINGOENCEPHALITIS | CEREBROSPINAL-FLUID | ANTIFUNGAL IMMUNITY | CHILDREN | MENINGITIS | VIROLOGY | MUTATIONS | CHEMOKINE RECEPTORS | INHERITED CARD9 DEFICIENCY | PARASITOLOGY | CARD Signaling Adaptor Proteins - immunology | Humans | CARD Signaling Adaptor Proteins - deficiency | Central Nervous System Infections - immunology | Immunologic Deficiency Syndromes - microbiology | Blotting, Western | Mice, Knockout | Animals | Flow Cytometry | Female | Mice | Candidiasis - immunology | Immunologic Deficiency Syndromes - immunology | Neutrophil Infiltration - immunology | Mycoses | Development and progression | Health aspects | Central nervous system | Neutrophils | Biomedical research | Cytokines | Mortality | Nervous system | Fungal infections | Kinases | Experiments | Patients | Brain research | Rodents | Bone marrow | Lectins | Mutation | Chemokines
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9. Full Text Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations
by Kellner, Erinn S and Krupski, Christa and Kuehn, Hye Sun and Rosenzweig, Sergio D and Yoshida, Nao and Kojima, Seiji and Boutboul, David and Latour, Sylvain and Barlogis, Vincent and Galambrun, Claire and Stray-Pedersen, Asbjørg and Erichsen, Hans Christian and Marsh, Rebecca A
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 07/2019, Volume 144, Issue 1, pp. 339 - 342
To the Editor: The transcription factor IKAROS is encoded by the IKZF1 gene and plays a crucial role in lymphopoiesis.1,2 Somatic and, more recently, germline... 
ALLERGY | IKAROS | IMMUNOLOGY | Corticoids | Cell culture | Graft-versus-host reaction | Pneumonia | Animal models | Common variable immunodeficiency | Transplants & implants | CD8 antigen | Leukemia | Prophylaxis | Amino acids | Transplantation | Infections | Malignancy | Vaccines | Lymphocytes | CD56 antigen | Descent | Age | Cryptosporidium | Cytomegalovirus | Phenotypes | Immunoglobulins | Immunological memory | Acute lymphatic leukemia | CD19 antigen | Corticosteroids | Neutrophils | Cholangitis | CD3 antigen | Lymphatic leukemia | Patients | CD4 antigen | CD16 antigen | Respiratory syncytial virus | Lymphocytes B | Cell number | Stem cells | Skin | Mutation | Viral infections | Life Sciences | Immunology
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10. Full Text Ikaros family zinc finger 1 regulates dendritic cell development and function in humans
by Cytlak, Urszula and Resteu, Anastasia and Bogaert, Delfien and Kuehn, Hye Sun and Altmann, Thomas and Gennery, Andrew and Jackson, Graham and Kumanovics, Attila and Voelkerding, Karl V and Prader, Seraina and Dullaers, Melissa and Reichenbach, Janine and Hill, Harry and Haerynck, Filomeen and Rosenzweig, Sergio D and Collin, Matthew and Bigley, Venetia
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 10
Ikaros family zinc finger 1 (IKZF1) is a haematopoietic transcription factor required for mammalian B-cell development. IKZF1 deficiency also reduces... 
B-CELLS | SURVIVAL | RESPONSES | MULTIDISCIPLINARY SCIENCES | MOUSE | DIFFERENTIATION | MUTATIONS | PROTEINS | MULTIPLE-MYELOMA CELLS | IMMUNODEFICIENCY | DEFICIENCY | Immune response | Ikaros protein | Dendritic cells | Immunomodulation | Interleukin 12 | Progenitor cells | Zinc | α-Interferon | Monocytes | Lymphocytes B | Tumor necrosis factor | Cells (biology) | Stem cells | Zinc finger proteins | Mutation
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11. Full Text A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects
by Bogaert, Delfien J and Kuehn, Hye Sun and Bonroy, Carolien and Calvo, Katherine R and Dehoorne, Joke and Vanlander, Arnaud V and De Bruyne, Marieke and Cytlak, Urszula and Bigley, Venetia and De Baets, Frans and De Baere, Elfride and Rosenzweig, Sergio D and Haerynck, Filomeen and Dullaers, Melissa
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 01/2018, Volume 141, Issue 1, pp. 432 - 435.e7
[...]our findings indicate a molecular diagnosis of IKAROS haploinsufficiency in patients II:3 and II:4 and their asymptomatic mother (subject I:2). Because... 
IMMUNITY | MUTATIONS | IMMUNOLOGY | HEMATOPOIESIS | ALLERGY | Bacterial infections | Ikaros protein | Leukemia | Families & family life | Arthritis | Patients | Streptococcus infections | Haploinsufficiency | Proteins | Lymphocytes B | Bone marrow | Tetanus | Mutation | Age
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12. Full Text Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency
by Boutboul, David and Kuehn, Hye Sun and Van De Wyngaert, Zoé and Niemela, Julie E and Callebaut, Isabelle and Stoddard, Jennifer and Lenoir, Christelle and Barlogis, Vincent and Farnarier, Catherine and Vely, Frédéric and Yoshida, Nao and Kojima, Seiji and Kanegane, Hirokazu and Hoshino, Akihiro and Hauck, Fabian and Lhermitte, Ludovic and Asnafi, Vahid and Roehrs, Philip and Chen, Shaoying and Verbsky, James W and Calvo, Katherine R and Husami, Ammar and Zhang, Kejian and Roberts, Joseph and Amrol, David and Sleaseman, John and Hsu, Amy P and Holland, Steven M and Marsh, Rebecca and Fischer, Alain and Fleisher, Thomas A and Picard, Capucine and Latour, Sylvain and Rosenzweig, Sergio D
Journal of Clinical Investigation, ISSN 0021-9738, 07/2018, Volume 128, Issue 7, pp. 3071 - 3087
Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 is implicated in lymphocyte and myeloid differentiation and... 
IKAROS GENE | SYSTEM | MEDICINE, RESEARCH & EXPERIMENTAL | HEMATOPOIESIS | DNA-BINDING PROTEINS | RECEPTOR | FETAL | EXPRESSION | FAMILY | Transcription factors | Gene mutations | Hematopoiesis | Physiological aspects | Genetic aspects | Research | Acute lymphocytic leukemia | Properties | Risk factors | Cell proliferation | Pediatrics | Common variable immunodeficiency | Ikaros protein | Families & family life | Effector cells | Amino acids | Lymphocytes T | Defects | Mimicry | Cell growth | Lymphocytes | Age | Deoxyribonucleic acid--DNA | Phenotypes | Memory cells | Acute lymphatic leukemia | Dendritic cells | Leukocytes (eosinophilic) | Neutrophils | Leukocytes (neutrophilic) | Lymphatic leukemia | Hemopoiesis | Haploinsufficiency | Monocytes | Lymphocytes B | Lymphomas | Mutation | Viral infections | Apoptosis | Life Sciences
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13. Full Text Activated STING in a Vascular and Pulmonary Syndrome
by Liu, Yin and Jesus, Adriana A and Marrero, Bernadette and Yang, Dan and Ramsey, Suzanne E and Montealegre Sanchez, Gina A and Tenbrock, Klaus and Wittkowski, Helmut and Jones, Olcay Y and Kuehn, Hye Sun and Lee, Chyi-Chia R and DiMattia, Michael A and Cowen, Edward W and Gonzalez, Benito and Palmer, Ira and DiGiovanna, John J and Biancotto, Angelique and Kim, H. Jeffery and Kim, Hanna and Tsai, Wanxia L and Trier, Anna M and Huang, Yan and Stone, Deborah L and Hill, Suvimol and St. Hilaire, Cynthia and Gurprasad, Shakuntala and Plass, Nicole and Chapelle, Dawn and Horkayne-Szakaly, Iren and Foell, Dirk and Barysenka, Andrei and Candotti, Fabio and Holland, Steven M and Hughes, Jason D and Mehmet, Huseyin and Issekutz, Andrew C and Raffeld, Mark and McElwee, Joshua and Fontana, Joseph R and Minniti, Caterina P and Moir, Susan and Kastner, Daniel L and Gadina, Massimo and Steven, Alasdair C and Wingfield, Paul T and Brooks, Stephen R and Rosenzweig, Sergio D and Fleisher, Thomas A and Deng, Zuoming and Boehm, Manfred and Paller, Amy S and Goldbach-Mansky, Raphaela
The New England Journal of Medicine, ISSN 0028-4793, 08/2014, Volume 371, Issue 6, pp. 507 - 518
The stimulator of interferon genes (STING) protein bridges sensors of cytosolic DNA and the inflammatory pathway mediated by interferon-β. Activating mutations... 
MEDICINE, GENERAL & INTERNAL | FAMILIAL CHILBLAIN LUPUS | CYCLIC GMP-AMP | DNA | PROTEASOME SUBUNIT | LIPODYSTROPHY | SENSOR | MONOGENIC AUTOINFLAMMATORY DISEASES | EXPRESSION | I INTERFERON | INBORN-ERRORS | Up-Regulation | Phosphorylation | Humans | Infant | Male | Interferon-gamma - metabolism | Inflammation - metabolism | STAT1 Transcription Factor - metabolism | Skin Diseases, Vascular - genetics | Genes, Dominant | Female | Transcription, Genetic | Interferon-gamma - genetics | Cytokines - genetics | Infant, Newborn | Fibroblasts - metabolism | Skin Diseases, Vascular - metabolism | Cytokines - metabolism | Membrane Proteins - genetics | Sequence Analysis, DNA | Syndrome | Janus Kinases - antagonists & inhibitors | Lung Diseases - genetics | Pedigree | Age of Onset | Inflammation - genetics | Mutation | Pulmonary manifestations of general diseases | Blood circulation disorders | Genetic aspects | Research | Gene mutations | Risk factors | Transcription | Genes | Guanosine | Leukocytes (mononuclear) | Arthritis | Interleukin 6 | Cell activation | Vascular diseases | Lymphocytes | Cyclic GMP | Interleukin 1 | Peripheral blood | Fingers & toes | Fibroblasts | Janus kinase | Skin diseases | Children | Stat1 protein | Age | Deoxyribonucleic acid--DNA | Phenotypes | AMP | Patients | Endothelial cells | Studies | Biopsy | Ligands | Interferon | Autoimmune diseases | Apoptosis
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14. Full Text EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
by Volpi, Stefano and Yamazaki, Yasuhiro and Brauer, Patrick M and van Rooijen, Ellen and Hayashida, Atsuko and Slavotinek, Anne and Sun Kuehn, Hye and Di Rocco, Maja and Rivolta, Carlo and Bortolomai, Ileana and Du, Likun and Felgentreff, Kerstin and Ott de Bruin, Lisa and Hayashida, Kazutaka and Freedman, George and Marcovecchio, Genni Enza and Capuder, Kelly and Rath, Prisni and Luche, Nicole and Hagedorn, Elliott J and Buoncompagni, Antonella and Royer-Bertrand, Beryl and Giliani, Silvia and Poliani, Pietro Luigi and Imberti, Luisa and Dobbs, Kerry and Poulain, Fabienne E and Martini, Alberto and Manis, John and Linhardt, Robert J and Bosticardo, Marita and Rosenzweig, Sergio Damian and Lee, Hane and Puck, Jennifer M and Zúñiga-Pflücker, Juan Carlos and Zon, Leonard and Park, Pyong Woo and Superti-Furga, Andrea and Notarangelo, Luigi D
The Journal of experimental medicine, ISSN 0022-1007, 03/2017, Volume 214, Issue 3, pp. 623 - 637
We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense... 
MEDICINE, RESEARCH & EXPERIMENTAL | SEVERE COMBINED IMMUNODEFICIENCY | IN-VITRO | B-LYMPHOPOIESIS | EMBRYONIC STEM-CELLS | HEPARAN-SULFATE | SHORT-LIMBED DWARFISM | DIFFERENTIATION | IMMUNOLOGY | TUMOR SUPPRESSORS | HSPG SYNTHESIS | HEMATOPOIETIC STEM | Brain | Fibroblast growth factor | Phosphorylation | Glycosyltransferase | Interleukin | Differentiation (biology) | Transgenic | Fluorescence | Biosynthesis | Lymphocytes T | Sulfates | Delay | Thymus | Missense mutation | Interleukin 2 | Lymphocytes | Bone dysplasia | Fibroblasts | Skeleton | Growth factors | Fibroblast growth factor 2 | Heparan sulfate | Dysplasia | Cytokines | Abnormalities | Immunodeficiency | Zebrafish | Stat5 protein | Cell differentiation | Ribonucleic acid--RNA | Patients | Progenitor cells | Thymopoiesis | Signaling | RAG2 protein | Stem cells | Green fluorescent protein | Cells (biology) | Mutation | Sulfate | Auditory defects | Pluripotency | 316 | 310
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