Results 141 to 150 of about 131,732 (302)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 more
wiley +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Animal Research and One Health, EarlyView.Schematic summary of the effects of organic acids on growth performance and gut health‐related parameters in broilers. ABSTRACT This study was conducted to evaluate the effects of an organic acid blend on growth performance, redox homeostasis, and intestinal microbiota of broilers raised in an antibiotic‐free system during the winter season in China ...
Rong‐Hui Huang +11 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective Dermal systemic sclerosis (SSc) fibroblasts and their exosomes can activate keratinocytes in SSc, with long noncoding RNA (lncRNA) H19 highlighted as the most up‐regulated RNA in their cargo compared with healthy controls (HCs). The role of H19 in SSc pathogenesis has never been investigated.
Begoña Caballero‐Ruiz +3 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective Cardiac involvement is a major cause of morbidity in systemic lupus erythematosus (SLE). Tumor necrosis factor–like weak inducer of apoptosis (TWEAK) is elevated in SLE, but its contribution to lupus‐associated cardiac injury is unclear. We investigated the role of TWEAK/fibroblast growth factor–inducible 14 (Fn14) signaling in SLE‐related ...
Yale Liu +12 more
wiley +1 more source
The Application of Prodrugs as a Tool to Enhance the Properties of Nucleoside Reverse Transcriptase Inhibitors. [PDF]
Viruses, 2023 Fernandes LDR +5 more
europepmc +1 more source
Arthritis &Rheumatology, EarlyView.Objective Both susceptibility to, and severity of, rheumatoid arthritis (RA) is associated with the rs26232 C allele. Our primary aim was to identify the biologic mechanism underlying this association. Methods Expression of surrounding genes was compared among rs26232 genotypes.
Kevin J. Sheridan +12 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective Identification of osteoarthritis (OA)–specific synovial inflammatory pathways and their temporal relevance is critical for therapeutic targeting. We compared mononuclear inflammatory/immune cell responses following joint injury that does or does not lead to OA to define bona fide OA‐associated cellular events.
Babak Moradi +10 more
wiley +1 more source
Strategies in the Design and Development of Non-Nucleoside Reverse Transcriptase Inhibitors (NNRTIs). [PDF]
Viruses, 2023 Vanangamudi M +3 more
europepmc +1 more source