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Rare variants in high-risk autism gene can alter architecture and organization of neurons, study finds

Scientists at the University of North Carolina at Chapel Hill School of Medicine and colleagues have demonstrated that rare variants in the ANK2 gene, consistently found in individuals with autism spectrum disorder (ASD), can alter architecture and organization of neurons, potentially contributing to autism and neurodevelopmental comorbidities.

29 Nov 2021

Genetic variations affect and rewire phosphorylation signaling networks in SARS-CoV-2 infection

Researchers study human single nucleotide variants (SNVs) using machine learning to identify amino acid changes that alter kinase-bound sequence motifs.

29 Nov 2021

New technique may be a significant leap forward in the understanding of human cells

Most human diseases can be traced to malfunctioning parts of a cell — a tumor is able to grow because a gene wasn't accurately translated into a particular protein or a metabolic disease arises because mitochondria aren't firing properly, for example. But to understand what parts of a cell can go wrong in a disease, scientists first need to have a complete list of parts.

24 Nov 2021

Researchers identify mechanism behind regulation of large exon splicing during vertebrate evolution

In vertebrates, large exons often skip splicing events and are evolutionarily conserved. Scientists from Nagoya University, Japan, led by Associate Professor Akio Masuda, have recently identified the mechanism behind regulated splicing of large constitutive exons which are rich in disordered regions, and their potential involvement in the assembly of transcription factors.

21 Nov 2021

Human Proteoform Project aims to define the entire collection of proteins in the body

Now that the Human Genome Project has officially wrapped, an international team of researchers will map the entire collection of proteins in the human body.

21 Nov 2021

Novel long-read sequencing reveals complete repertoire of brain-expressed gene isoforms

New research led by the University of Exeter has shed light on the complexity of gene expression in the brain by characterizing the extent of isoform diversity in the human and mouse cortex, including the identification of novel isoforms of genes involved in diseases including Alzheimer's disease, autism and schizophrenia.

16 Nov 2021

Rare disease diagnosis by 100,000 genomes pilot

A team of researchers conducted a pilot study that enrolled families and undertook detailed clinical phenotyping of the proband to evaluate the effect of the whole genome sequencing approach on a genetic diagnosis of rare conditions by the NHS in the UK.

12 Nov 2021

Research reveals components of Sinbis virus ribonucleoproteins

To address this gap in research regarding the understanding of post-replicative alphavirus RNPs, scientists have created a novel proteome-wide approach known as viral RNA interactome capture (vRIC). This study is available in the bioRxiv* preprint server while awaiting peer review.

11 Oct 2021

NIH awards more than $8 million to support seven high-risk, high-reward projects at Penn Medicine

The National Institutes of Health has awarded grants to researchers in the Perelman School of Medicine at the University of Pennsylvania to support "highly innovative and broadly impactful" biomedical science through the NIH Common Fund's High-Risk, High-Reward Research program. The seven awards total approximately $8.2 million over five years,

8 Oct 2021

Study uncovers new drug target for myelodysplastic syndrome

Mount Sinai and UC San Diego researchers have shown for the first time how mutations affecting a cellular process called RNA splicing alter cells to develop myelodysplastic syndrome (MDS) and other hematologic malignancies and solid tumors, according to a study published in Cancer Discovery in October.

7 Oct 2021

Methylation of TDP-43 DNA linked to age-dependent motor cortex involvement in ALS

Amyotrophic lateral sclerosis (ALS) is an intractable neurological disease. Aging is a risk factor for the accumulation of TDP-43 (transduction responsive region DNA-binding protein of 43kDa) in the motor cortex. TDP-43 is a protein that tends to accumulate in increasing amounts, and the amount is strictly controlled by the splicing of TDP-43. Through cell experiments and analysis of human brain tissue, researchers at Brain Research Institute, Niigata University, led by Akihiro Sugai, M.D., Ph.D., have found that methylation of TDP-43 DNA is involved in the background of motor cortex involvement with aging in ALS

29 Sep 2021

New SARS-CoV-2 mechanism of host gene suppression

A new study finds that the viral non-coding RNA dubbed vmiR-5p, derived from the viral gene ORF7a, appears to reduce host transcription.

13 Sep 2021

Study uncovers a subset of human short introns spliced out by a distinct mechanism

The interrupted non-coding regions in pre-mRNAs, termed “introns,” are excised by “splicing” to generate mature coding mRNAs that are translated into proteins.

13 Aug 2021

Potential new treatment for mast cell cancers reduces tumor size and prevents organ infiltration

A potential new treatment for mast cell cancers reduces the number of mast cells by "mutating" the messenger RNA (mRNA) before it can deliver instructions for manufacturing the gene responsible for cell proliferation.

10 Aug 2021

Next-generation CRISPR tools and therapies improved by modified RNA guides

A new type of gene-editing tool, CRISPR-Cas13, has shown promise in RNA targeting. Previous studies have shown the tool as a potential treatment method for viral diseases, including coronavirus disease (COVID-19).

3 Aug 2021

Mount Sinai researchers use cerebral organoids to study frontotemporal dementia

Frontotemporal dementias are a group of fatal and debilitating brain disorders for which there are no cures.

26 Jul 2021

Researchers study the role of subnuclear NSrp70 in T cell-mediated adaptive immunity

T cells are components of the body’s immune system. The ability of T cells to recognize diverse pathogens and mount a defense against them stems from the way proteins are spliced during their development and maturation.

15 Jul 2021

Researchers gain new insights into the pathology of Usher syndrome

Human Usher syndrome (USH) is the most common form of hereditary deaf-blindness. Sufferers can be deaf from birth, suffer from balance disorders, and eventually lose their eyesight as the disease progresses.

12 Jul 2021

Study explores the effects of SARS-CoV-2 (and other betacoronaviruses) on cellular mRNA processing

A new study has been released on the bioRxiv* preprint server, which deals with a comprehensive survey on alternative splicing concerning SARS-CoV-2 infection. This study has also included two other betacoronavirurses (SARS-CoV and MERS), a control set of unrelated viruses, and a bacterium, namely, Streptococcus pneumonia. The study findings suggest that several cellular parameters are affected owing to a betacoronavirus infection, which in turn affects some genes and invariably various biological functions.

6 Jul 2021

New components for oligonucleotide drugs show safety, efficacy in treating spinal muscular atrophy

Skoltech researchers and their colleagues from Russia and the UK investigated the safety and efficacy of new chemistry in antisense oligonucleotides used to treat spinal muscular atrophy (SMA), a debilitating genetic disease.

29 Jun 2021