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PubPharm (9)
1
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma
enthalten in:
Journal of clinical immunology
| 2023
von
Minskaia, E.
|
Maimaris, J.
|
Jenkins, P.
| +110
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2
Practical challenges for functional validation of STAT1 gain of function genetic variants
enthalten in:
Clinical and experimental immunology
| 2023
von
Albuquerque, A.
|
Maimaris, J.
|
McKenna, A.
| +109
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3
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
enthalten in:
Nature communications
| 2022
von
Dixon, P.
|
Levine, A.
|
Cebola, I.
| +121
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4
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
enthalten in:
The Journal of allergy and clinical immunology
| 2020
von
Lorenzini, T.
|
Fliegauf, M.
|
Klammer, N.
| +173
ErratumIn: J Allergy Clin Immunol. 2021 Nov;148(5):1345. - PMID 34743834
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5
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
enthalten in:
The Journal of experimental medicine
| 2019
von
Spencer, S.
|
Köstel Bal, S.
|
Egner, W.
| +35
CommentIn: J Exp Med. 2019 Sep 2;216(9):1969-1971. - PMID 31235508
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6
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
enthalten in:
The Journal of allergy and clinical immunology
| 2018
von
Tuijnenburg, P.
|
Lango Allen, H.
|
Burns, S.
| +128
CommentIn: J Allergy Clin Immunol. 2018 Oct;142(4):1062-1065. - PMID 30165054
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7
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
enthalten in:
American journal of human genetics
| 2018
von
Whitworth, J.
|
Smith, P.
|
Martin, J.
| +141
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8
Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency
enthalten in:
The Journal of allergy and clinical immunology
| 2018
von
Lawless, D.
|
Geier, C.
|
Farmer, J.
| +43
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9
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen
enthalten in:
Proceedings of the National Academy of Sciences of the United States of America
| 2009
von
Alimohammadi, M.
|
Dubois, N.
|
Sköldberg, F.
| +21
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1
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Thema: Research Support, Non-U.S. Gov't
Medienart
9
Aufsätze
9
E-Artikel
9
E-Ressourcen
Zeitschriftentitel
3
The Journal of allergy and clinical immunology
1
American journal of human genetics
1
Clinical and experimental immunology
1
Journal of clinical immunology
1
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1
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1
The Journal of experimental medicine
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Thema
Research Support, Non-U.S. Gov't
8
Journal Article
3
Research Support, N.I.H., Extramural
2
NF-kappa B p50 Subunit
2
NFKB1 protein, human
2
common variable immunodeficiency
1
128559-51-3
1
207137-56-2
1
Atopy
1
Autoantibodies
1
Autoantigens
1
B cells
1
Bile Acids and Salts
1
Biomarkers
1
Biomarkers, Tumor
1
Case Reports
1
DNA-Binding Proteins
1
EC 2.7.10.2
1
Gain-of-function
1
Homeodomain Proteins
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4
2020-
4
2010-2019
1
2000-2009
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