Inborn errors of adaptive immunity in Down syndrome

RHJ Verstegen, MAA Kusters - Journal of Clinical Immunology, 2020 - Springer
Down syndrome fits an immunophenotype of combined immunodeficiency with
immunodysregulation, manifesting with increased susceptibility to infections, autoimmunity …

Circular RNAs: A New Approach to Multiple Sclerosis

R Sciaccotta, G Murdaca, S Caserta, V Rizzo… - Biomedicines, 2023 - mdpi.com
Multiple sclerosis, a condition characterised by demyelination and axonal damage in the
central nervous system, is due to autoreactive immune cells that recognise myelin antigens …

Non-histone lysine crotonylation is involved in the regulation of white fat browning

Y Liu, Y Li, J Liang, Z Sun, C Sun - International Journal of Molecular …, 2022 - mdpi.com
Lysine crotonylation modification is a novel acylation modification that is similar to
acetylation modification. Studies have found that protein acetylation plays an important …

Multiple sclerosis: circRNA profile defined reveals links to B-cell function

AE Zurawska, MP Mycko, I Selmaj… - Neurology …, 2021 - AAN Enterprises
Background and Objectives To investigate the total circular RNA (circRNA) profile in patients
with relapsing-remitting multiple sclerosis (RRMS) and healthy controls (HCs). Methods …

NSD2 drives t (4; 14) myeloma cell dependence on adenylate kinase 2 by diverting one-carbon metabolism to the epigenome

A Sobh, E Encinas, A Patel, G Surapaneni, E Bonilla… - Blood, 2024 - ashpublications.org
Abstract Chromosomal translocation (4; 14), an adverse prognostic factor in multiple
myeloma (MM), drives overexpression of the histone methyltransferase nuclear receptor …

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity

M Dasouki, A Jabr, G AlDakheel… - Clinical & …, 2020 - academic.oup.com
Primary immune deficiency (PID) disorders are clinically and molecularly heterogeneous
diseases. T cell receptor excision circles (TRECs) and κ (kappa)-deleting excision circles …

Inborn errors of immunity: Recent progress

N Seth, KS Tuano, J Chinen - Journal of Allergy and Clinical Immunology, 2021 - Elsevier
Recent advances in the field of inborn errors of immunity (IEIs) have been wide in scope,
including progress in mechanisms of disease, diagnosis, and management. New gene …

Metabolic heterogeneity in tumor microenvironment–A novel landmark for immunotherapy

C Chen, P Han, Y Qing - Autoimmunity Reviews, 2024 - Elsevier
The surrounding non-cancer cells and tumor cells that make up the tumor microenvironment
(TME) have various metabolic rhythms. TME metabolic heterogeneity is influenced by the …

Unique structural features of the adenylate kinase hCINAP/AK6 and its multifaceted functions in carcinogenesis and tumor progression

R Xu, Y Yang, X Zheng - FEBS letters, 2021 - Wiley Online Library
Human coilin‐interacting nuclear ATPase protein (hCINAP), also known as adenylate
kinase 6 (AK6), is an atypical adenylate kinase with critical roles in many biological …

Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G> A, 223dupA)

S He, H Chen, X Guo, J Gao - BMC Medical Genomics, 2022 - Springer
Background Adenylate kinase (AK) is a monomolecular enzyme widely found in a variety of
organisms. It mainly catalyses the reversible transfer of adenosine nucleotide phosphate …