Results 131 to 140 of about 67,725 (262)
On the structure of succinic dehydrogenase flavocoenzyme [PDF]
Hemmerich, P. +6 more
openaire +2 more sources
ABSTRACT Parabens (PBs) are compounds widely used as preservatives in personal care products, food, and pharmaceuticals. Methylparaben (MePB) is the most used by different industries due to its chemical properties and low cost. The high daily human exposure to these compounds has raised concerns about their potential effects on health, particularly on ...
Yenny Ramírez‐Jara +11 more
wiley +1 more source
Functional characterization of SDHB variants: Advancing succinate dehydrogenase biology and variant curation in hereditary paraganglioma. [PDF]
Clifton-Bligh R.
europepmc +1 more source
ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG), the most common congenital disorder of glycosylation (CDG), is characterized by multisystem involvement and a lack of disease‐modifying therapies. While previous transcriptomic studies have uncovered disrupted cellular pathways, the functional consequences of these alterations remain poorly understood.
Diana Gallego +10 more
wiley +1 more source
Fibroblast growth factor receptor inhibition for succinate dehydrogenase-deficient gastrointestinal stromal tumors: a phase 2 trial. [PDF]
Merriam P +28 more
europepmc +1 more source
Galectin‐4: A Novel Mediator of Human Intervertebral Disc Degeneration
Galectin‐4 correlates with intervertebral disc degeneration, independent of age, sex, or underlying pathology. Functionally, it activates NF‐κB signaling and induces pro‐inflammatory and matrix‐degrading responses, with stronger effects in nucleus pulposus cells, identifying it as a novel molecular player in disc degeneration.
Christine Strauss +12 more
wiley +1 more source
Structural basis of menaquinone reduction by succinate dehydrogenase from Chloroflexus aurantiacus. [PDF]
Zhang X +12 more
europepmc +1 more source
A TETRA‐primer amplification refractory mutation system polymerase chain reaction (T‐ARMS‐PCR) method was developed for simultaneous detection of the L412F/V and G408V mutations. L412F/V mutants were created using the CRISPR/Cas tool and no fitness cost was observed.
Georgios Sofianos +3 more
wiley +1 more source
Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency. [PDF]
Bowen AB +7 more
europepmc +1 more source
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
wiley +1 more source

