Splicing News and Research

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Moffitt researchers discover kidney cancer-specific splicing variant biomarkers

Kidney cancer accounts for only 4% of all cancers in the United States; however, its incidence has more than doubled since 1975, with the most common type being clear cell renal cell carcinoma.

8 Jul 2022

Study yields molecular clues that could lead to new treatments for rare genetic disease

A new stem cell study by KAUST researchers helps to explain a rare genetic disease called Wiskott-Aldrich syndrome (WAS), yielding molecular clues that could lead to new treatments for a devastating immune deficiency disorder.

6 Jul 2022

New model reveals cancer-driving mutations

In this interview, News-Medical speaks to Maxwell Sherman, an MIT graduate student and one of the lead authors of a study that used a new method to investigate cancer genomes.

6 Jul 2022

Gene expression regulation by N6-methyladenosine

A recent study published in Molecular Cell reviewed the control of gene expression by N6-methyladenosine (m6A), a modified nucleotide in the messenger ribonucleic acid (mRNA).

22 Jun 2022

Researchers map cancer driver mutations across the human genome

In a recent study published in Nature Biotechnology, researchers explored the causes of cancer by mapping somatic mutation rates across the human genome.

22 Jun 2022

New study uncovers the impact of genetic mutations on lifelong blood cell production

New research has uncovered how genetic mutations hijack the production of blood cells in different periods of life.

1 Jun 2022

Interactive web portal details the extent of splicing events in noncoding sequences

An online tool reveals the extent of gene-restructuring events in noncoding sequences.

30 May 2022

Understanding transposons provides a new starting point to generate more powerful gene editing tools

CRISPR has ushered in the era of genomic medicine. A line of powerful tools has been developed from the popular CRISPR-Cas9 to cure genetic diseases.

27 May 2022

Deep visual proteomics is redefining cancer diagnostics

In a recent study published in the journal Nature Biotechnology, researchers introduced deep visual proteomics (DVP), an amalgamation of artificial intelligence (AI) for image analysis and mass spectrometry (MS) for proteomic profiling of biological samples.

22 May 2022

Tabula sapiens, most comprehensive human cell atlas

In a recent study published in the journal Science, researchers created an atlas termed the Tabula sapiens for over 400 distinct cell types of humans. Several aspects of human physiology were revealed by the atlas, such as how different types of cells splice genes differently.

16 May 2022

The promise of RNA medicine is targeted and personalized

The development of messenger RNA (mRNA) vaccines against the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has only increased the impetus in this field.

11 May 2022

Deep learning reveals genetic determinants of COVID-19-associated mortality

In a recent study posted to the medRxiv* preprint server, researchers applied deep learning methods and identified genetic variants linked to severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)-caused mortality.

11 May 2022

Study explores SARS-CoV-2 RNA genome's functional interactions with host cell

In a new study, a worldwide map of the SARS-CoV-2 genome-associated host proteins was developed by a team of researchers using the identification of RNA-binding protein by MS (ChIRP-MS) technique.

3 May 2022

Multi-omics identify COVID-19 severity predictors and prothrombotic signatures in patients with end-stage kidney disease

Researchers demonstrated that plasma levels of leucine-rich repeat-containing 15 are a strong indicator of the severity of COVID-19 in patients with end-stage kidney disease.

3 May 2022

New method enables the structural analysis of RNA molecules

We live in a world made and run by RNA, the equally important sibling of the genetic molecule DNA. In fact, evolutionary biologists hypothesize that RNA existed and self-replicated even before the appearance of DNA and the proteins encoded by it.

3 May 2022

RNA splicing abnormalities in COVID-19 patients

This study entailed the integration of multiple-omics datasets to examine the dysregulation in the host splicing mechanism and alteration in protein isoforms among COVID-19 patients.

20 Apr 2022

Regulation of alternative splicing goes haywire in cells of a newly formed embryo

Alternative splicing is a fundamental biological process that allows cells to make many different types of mRNAs and proteins from a limited number of genes. For many animals, including humans, it is a feature that is essential for the development of complex cells such as muscles or neurons.

13 Apr 2022

Researchers discover over 40 new genetic markers for Alzheimer’s disease

A new Nature Genetics study describes over 70 gene markers that appear to be significantly associated with AD risk using translational genomics.

6 Apr 2022

Discovery may open novel avenues to prevent or treat hematological malignancies

Scientists at Yale Cancer Center have discovered new consequences of specific gene mutations that play a role in the development of myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML).

17 Mar 2022

Novel molecular pathway shared by two neurodegenerative disorders discovered

Scientists from two independent research teams have discovered how the mislocalization of a protein, known as TDP-43, alters the genetic instructions for UNC13A, providing a possible therapeutic target that could also have implications in treating amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other forms of dementia.

28 Feb 2022