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Journal of Molecular Medicine · 2026 · Vol. 104 · Issue 1 · Springer
Peroxisome proliferator-activated receptor gamma coactivator 1α (PGC-1α) is a master transcriptional coactivator responsible for regulating cellular energy metabolism and mitochondrial biogenesis across high-energy tissues such as the heart, skeletal muscle, and brown adipose tissue. To orchestrate its regulatory functions, PGC-1α interacts with a diverse array of transcription factors such as peroxisome proliferator-activated...
Human Genetics · 2026 · Vol. 145 · Issue 1 · Springer
Pathogenic variation of SLC26A 4 gene causes both Pendred syndrome (PDS) and non-syndromic enlarged vestibular aqueduct (NSEVA/DFNB4), two autosomal recessive disorders. The former accounts for approximately 6% of human genetic hearing loss, making it the second most common form of syndromic deafness after Usher syndrome, while the latter is the most common radiological malformation associated with childhood sensorineural hear...
Human Genetics · 2026 · Vol. 145 · Issue 1 · Springer
APOE ’s ε4 haplotype ( APOE4 ) is late onset Alzheimer’s disease’s (LOAD) strongest genetic risk factor. Therefore, accurately modeling APOE4 ’s effect is critical to understanding LOAD. This is especially important as APOE4 odds ratios (OR) vary across racial and ethnic (R/E) groups. We analyzed the APOE4 -LOAD association in 3,196 East Asian, 31,105 non-Hispanic White (White), 1,646 Hispanic and Latino (Hispanic), and 6,068...