Results 71 to 80 of about 220,119 (313)

Mild Hypogammaglobulinemia Can Be a Serious Condition

Frontiers in Immunology, 2018
Background: Most patients with primary antibody deficiency (PAD) suffer from less well-described and understood forms of hypogammaglobulinemia (unclassified primary antibody deficiency, unPAD).
Lisanne M. A. Janssen, Paul Bassett, Thomas Macken, Jolanda van Esch, Hans Pruijt, Arnoud Knoops, Markus Sköld, Antony Parker, Jolanda de Vries, Esther de Vries, Esther de Vries   +10 more
doaj   +1 more source

POLE Deficiency Exacerbates Diesel Engine Exhaust‐Induced Genomic Instability and Malignant Transformation of Bronchial Epithelial Cells

Advanced Science, EarlyView.
This study establishes a diesel engine exhaust (DEE)‐induced malignant transformation model in bronchial epithelial cells. Whole genome sequencing（WGS） and RNA‐seq reveal DEE‐induced mutational signatures and gene expression profiles. Mechanistically, DEEaffect polymerase epsilon (POLE) and mismatch repair, driving genomic instability and promoting ...
Pimei Zhang, Zhaoxu Wu, Qiang Ju, Nuo Xu, Xian Chen, Hongguang Chen, Shuaishuai Yang, Jing Ji, Yanjie Zhao   +8 more
wiley   +1 more source

Author Correction: A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Nature Communications, 2019
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
S. J. Tavernier, V. Athanasopoulos, P. Verloo, G. Behrens, J. Staal, D. J. Bogaert, L. Naesens, M. De Bruyne, S. Van Gassen, E. Parthoens, J. Ellyard, J. Cappello, L. X. Morris, H. Van Gorp, G. Van Isterdael, Y. Saeys, M. Lamkanfi, P. Schelstraete, J. Dehoorne, V. Bordon, R. Van Coster, B. N. Lambrecht, B. Menten, R. Beyaert, C. G. Vinuesa, V. Heissmeyer, M. Dullaers, F. Haerynck   +27 more
doaj   +1 more source

Arthritis in primary immunodeficiencies

Bolʹ, Sustavy, Pozvonočnik, 2017
The article deals with joint diseases in patients with primary immunodeficiencies. The analysis of the li­terature data based on Scopus, Science Index, Google Scholar, PubMed databases accentuated primary immunodeficiencies associated with the joint ...
O.R. Boyarchuk, L.A. Volyanska, T.A. Kovalchuk, M.I. Kinash   +3 more
doaj   +1 more source

SERUM THYMIC FACTOR (SF) IN PRIMARY IMMUNODEFICIENCY DISEASES [PDF]

, 1978
A Astaldi, G Astaldi, Marjorie Groenewoud, P.Th.A. Schellekens, V. P. Eijsvoogel   +4 more
openalex   +1 more source

LEDGF Binds H3R17me2a Promoting De Novo Nucleotide Biosynthesis in SETD2 Mutant Clear Cell Renal Cell Carcinoma

Advanced Science, EarlyView.
In SETD2‐mutant ccRCC, the original LEDGF recognition of the H3K36me3 regulatory axis no longer exists. LEDGF interacts with CARM1‐dependent H3R17me2a regulating the transcription of key enzymes in the de novo synthesis pathway. The abnormally elevated LEDGF leads to the accumulation of purine nucleotides in SETD2‐mutant ccRCC, thereby satisfying the ...
Yuwei Zhang, Yuhua Zhou, Yuezhou Zhang, Jing Lv, Yang Shen, Dong Zhang, Bo Liu, Wei Zhao, Junyi Ju, Qingyi Zhu, Ke Wang, Ninghan Feng   +11 more
wiley   +1 more source

A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Nature Communications, 2019
Roquin-1 is a posttranscriptional regulator that controls the expression of many immune-related genes such as ICOS and TNFA. Here, the authors report a homozygous R688* loss of function mutation in Roquin-1 in a patient with syndromic uncontrolled ...
S. J. Tavernier, V. Athanasopoulos, P. Verloo, G. Behrens, J. Staal, D. J. Bogaert, L. Naesens, M. De Bruyne, S. Van Gassen, E. Parthoens, J. Ellyard, J. Cappello, L. X. Morris, H. Van Gorp, G. Van Isterdael, Y. Saeys, M. Lamkanfi, P. Schelstraete, J. Dehoorne, V. Bordon, R. Van Coster, B. N. Lambrecht, B. Menten, R. Beyaert, C. G. Vinuesa, V. Heissmeyer, M. Dullaers, F. Haerynck   +27 more
doaj   +1 more source

A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation

Frontiers in Immunology, 2018
Background: Inherited CARD9 deficiency constitutes a primary immunodeficiency predisposing uniquely to chronic and invasive fungal infections. Certain mutations are shown to negatively impact CARD9 protein expression and/or NF-κB activation, but the ...
Marieke De Bruyne, Marieke De Bruyne, Marieke De Bruyne, Levi Hoste, Levi Hoste, Delfien J. Bogaert, Delfien J. Bogaert, Delfien J. Bogaert, Delfien J. Bogaert, Lien Van den Bossche, Lien Van den Bossche, Simon J. Tavernier, Simon J. Tavernier, Eef Parthoens, Eef Parthoens, Mélanie Migaud, Deborah Konopnicki, Jean Cyr Yombi, Bart N. Lambrecht, Bart N. Lambrecht, Sabine van Daele, Ana Karina Alves de Medeiros, Lieve Brochez, Rudi Beyaert, Elfride De Baere, Anne Puel, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Christophe Goffard, Savvas N. Savvides, Savvas N. Savvides, Filomeen Haerynck, Filomeen Haerynck, Jens Staal, Melissa Dullaers, Melissa Dullaers   +35 more
doaj   +1 more source

QSOX2‐Mediated Disulfide Bond Modification Enhances Tumor Stemness and Chemoresistance by Activating TSC2/mTOR/c‐Myc Feedback Loop in Esophageal Squamous Cell Carcinoma

Advanced Science, EarlyView.
High QSOX2 enhances stemness, drug resistance, and metastasis of ESCC cells. QSOX2‐mediated disulfide bond modification activates mTOR/c‐Myc signaling. CAFs‐secreted IGF‐1 drives mTOR/c‐Myc/QSOX2 positive feedback loop. Combining Ebselen, rapamycin, and cisplatin induces tumor dormancy in mice.
Wo‐Ming Chen, Xiao‐Ping Zhang, Xiao Sun, Hai‐Cheng Liu, Yuan‐Yuan Yan, Xue Wei, Yu Liang, Yue Feng, Zhengjie Chen, Yongxu Jia, Chen Jiang, Qian Yan, Lei Li   +12 more
wiley   +1 more source

The New Formulations of Immunoglobulin Replacement Therapies and Future Aspects

Turkish Journal of Immunology
Immunoglobulin replacement therapy (IgRT) stands as the established method of treatment for numerous inborn errors of immunity (IEI). Over the past six decades, there have been notable advancements in the dosing, processing, and administration routes of ...
Elif Karakoç-aydıner
doaj   +1 more source