Present-day publications on human genes primarily feature genes that already appeared in many publications prior to completion of the Human Genome Project in 2003.These patterns persist despite the subsequent adoption of high-throughput technologies, which routinely identify novel minnie mouse beach umbrella genes associated with biological process
Abstract 3-hydroxyisobutyryl-CoA hydrolase the dream painter deficiency (HIBCHD) is a rare metabolic disease.Early symptoms include poor feeding, seizures, hypotonia and impaired psychomotor development.Acute metabolic crisis can cause encephalopathy with high risk of neurological sequelae or death.Casuistic, we here report a nine-year old Danish g
Background/Objectives: Since the discovery of oncogenic vista 5 vl5 neurotrophic receptor tyrosine kinase (NTRK) gene fusions in colorectal cancer in 1986, their understanding has evolved, particularly in non-small-cell lung cancer (NSCLC) over the past five years.NTRK rearrangements, involving NTRK1, NTRK2, and NTRK3, drive tumorigenesis and have