A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Angewandte Chemie, EarlyView.Pt1, an organometallic platinum‐based complex, act as a modulator of redox homeostasis in cnidarians, regulating cellular functions and life‐cycle dynamics. In Nematostella vectensis, it mitigates oxidative stress, strengthens detox systems and accelerates development.
Giuseppina Tommasini +13 more
wiley +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun +7 more
wiley +1 more source
A 10-Year Comparative Analysis Shows that Increasing Prevalence of Rifampin-Resistant Mycobacterium tuberculosis in China Is Associated with the Transmission of Strains Harboring Compensatory Mutations. [PDF]
Antimicrob Agents Chemother, 2018 Huo F +11 more
europepmc +1 more source
Animal Models and Experimental Medicine, EarlyView.Two closely related BALB/c substrains exhibit different early responses to adriamycin (ADR)‐induced nephropathy. BALB/cByJcl mice showed lower baseline WT1‐positive nuclei counts and NPHS1 immunoreactivity than BALB/cAJcl mice, together with extracellular matrix and integrin programs that were enriched at baseline and persisted at Day 5.
Ryuya Nakagawa +5 more
wiley +1 more source
Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome
Annals of Neurology, EarlyView.Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca +24 more
wiley +1 more source
Efficient affinity maturation of antibody variable domains requires co-selection of compensatory mutations to maintain thermodynamic stability. [PDF]
Sci Rep, 2017 Julian MC +4 more
europepmc +1 more source
Chicken Pulmonary MicroRNAs Targeting the PB2 (Segment 1) of Avian Influenza Virus
Animal Research and One Health, EarlyView.The PB2 segment of H5N1 is essential for replication and host adaptation. We screened 200 miRNAs and identified five (gga‐miR‐17‐3p, gga‐miR‐29a‐5p, gga‐miR‐1718, gga‐miR‐16c‐5p, and gga‐miR‐1744‐5p) using thermodynamic stability of heteroduplex, seed sequence complementarity, conservation, and accessibility, offering insights into host antiviral ...
Akanksha Choudhary +7 more
wiley +1 more source
Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing
Animal Research and One Health, EarlyView.Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley +1 more source
Superiority of chromosomal compared to plasmid-encoded compensatory mutations
Wright RC +7 more
europepmc +1 more source