[HTML][HTML] Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity
G Sogkas, F Atschekzei, IR Adriawan… - Cellular & Molecular …, 2021 - nature.com
In addition to susceptibility to infections, conventional primary immunodeficiency disorders
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …
Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations
D Prokofyeva, N Bogdanova, N Dubrowinskaja… - Breast cancer research …, 2013 - Springer
Bloom's syndrome is a rare autosomal recessive chromosomal instability disorder with a
high incidence of various types of neoplasia, including breast cancer. Whether monoallelic …
high incidence of various types of neoplasia, including breast cancer. Whether monoallelic …
Neurofilament Heavy polypeptide CpG island methylation associates with prognosis of renal cell carcinoma and prediction of antivascular endothelial growth factor …
N Dubrowinskaja, K Gebauer, I Peters… - Cancer …, 2014 - Wiley Online Library
Neurofilament Heavy polypeptid (NEFH) belongs to the group of type IV intermediate
filament proteins. DNA methylation of the NEFH promoter and loss of expression have …
filament proteins. DNA methylation of the NEFH promoter and loss of expression have …
[HTML][HTML] Patient survival and tumor characteristics associated with CHEK2:p.I157T – findings from the Breast Cancer Association Consortium
TA Muranen, C Blomqvist, T Dörk, A Jakubowska… - Breast Cancer …, 2016 - Springer
Abstract Background P. I157T is a CHEK2 missense mutation associated with a modest
increase in breast cancer risk. Previously, another CHEK2 mutation, the protein truncating c …
increase in breast cancer risk. Previously, another CHEK2 mutation, the protein truncating c …
A role for XRCC2 gene polymorphisms in breast cancer risk and survival
Background The XRCC2 gene is a key mediator in the homologous recombination repair of
DNA double strand breaks. It is hypothesised that inherited variants in the XRCC2 gene …
DNA double strand breaks. It is hypothesised that inherited variants in the XRCC2 gene …
[HTML][HTML] DNA methylation biomarkers predict progression-free and overall survival of metastatic renal cell cancer (mRCC) treated with antiangiogenic therapies
I Peters, N Dubrowinskaja, M Abbas, C Seidel… - PloS one, 2014 - journals.plos.org
VEGF-targeted therapy increases both the progression-free (PFS) and overall survival (OS)
of patients with metastasized renal cell cancer (mRCC). Identification of molecular …
of patients with metastasized renal cell cancer (mRCC). Identification of molecular …
Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis
F Atschekzei, N Dubrowinskaja, M Anim, T Thiele… - RMD open, 2022 - rmdopen.bmj.com
Objectives Besides adaptive immunity genes, genetic risk factors for psoriatic arthritis (PsA)
include innate immunity loci, which suggests an autoinflammatory disease mechanism, at …
include innate immunity loci, which suggests an autoinflammatory disease mechanism, at …
Homeostatic and pathogenic roles of PI3Kδ in the human immune system
G Sogkas, IR Adriawan, N Dubrowinskaja… - Advances in …, 2020 - Elsevier
Abstract Phosphoinositide 3-kinase delta (PI3Kδ) mediates signaling transduction
downstream of diverse immune receptors, including the T cell receptor (TCR), the B cell …
downstream of diverse immune receptors, including the T cell receptor (TCR), the B cell …
Apoptosis gene polymorphisms and risk of prostate cancer: a hospital-based study of German patients treated with brachytherapy
A Meyer, I Coinac, N Bogdanova… - … Oncology: Seminars and …, 2013 - Elsevier
BACKGROUND AND OBJECTIVES:: Prostate cancer has a genetic component, and single
nucleotide polymorphisms (SNPs) can contribute to the risk. We aimed to investigate the role …
nucleotide polymorphisms (SNPs) can contribute to the risk. We aimed to investigate the role …
Genome-wide association study identifies a possible susceptibility locus for endometrial cancer
Background: Genome-wide association studies (GWAS) have identified more than 100
genetic loci for various cancers. However, only one is for endometrial cancer. Methods: We …
genetic loci for various cancers. However, only one is for endometrial cancer. Methods: We …