by Olivia Dimmer, Northwestern University Tissue-restricted expression of mammalian HAPSTR2. a Transcript abundance of HAPSTR1 and HAPSTR2 in the indicated human tissues; GTEx RNA-seq data. TPM, transcripts per million. Same heatmap scale across other subpanels. b Gene expression, chromatin accessibility, transcription start sites, and CpG islands at human HAPSTR1 and HAPSTR2 gene loci; GTEx, ENCODE,...
by Nadine A Yehya, UC Davis Credit: Unsplash/CC0 Public Domain An international team of researchers led by UC Davis geneticist Suma Shankar has discovered a new gene implicated in a neurodevelopmental condition called DPH5-related diphthamide-deficiency syndrome. The syndrome is caused by DPH5 gene variants that may lead to embryonic death or profound neurodevelopmental delays. Findings...
by Northwestern University Credit: Unsplash/CC0 Public Domain Life is organized on a 24-hour schedule. Central to this regular rhythm is the circadian clock, timekeepers that are present in virtually every organ, tissue, and cell type. When a clock goes awry, sleep disruption or a variety of diseases can result. A recent Northwestern University discovery could...
by Lund University Credit: CC0 Public Domain Researchers at Lund University in Sweden believe they have identified a gene variant that can cause cerebral small vessel disease and stroke. The study is published in Neurology Genetics. “The patients we have studied are from the same extended family, and several of them have been diagnosed with cerebral small vessel...
According to a new study from an international research team, co-directed by Scripps Research molecular biologist Claudio Joazeiro, PhD, failures in a quality control system that defends protein-building fidelity in cells can result in motor neuron degeneration and associated diseases. Claudio Joazeiro, PhD, is a professor in the Scripps Research Department of Molecular Medicine. Motor neurons regulate breathing, movement, speaking,...
