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Study identifies a novel rare mutation in gene linked to Harlequin Ichthyosis

Harlequin ichthyosis (HI) is a severe genetic skin disorder characterized by thick white, brown, or dark brown patches on the skin covering a newborn's entire body. HI has a low incidence of 1 per 300,000 live births but comes with the highest mortality rate among skin conditions. It is caused by a mutation in the ABCA12 gene, which codes for a protein involved in transporting lipids necessary for the formation of the skin barrier. Such protein shortage leads to a weaker epidermal barrier.

9 Mar 2023

Potential therapeutic can synergize with existing drugs to effectively destroy leukemia cells

A team of researchers has discovered a potential therapeutic that can synergize with existing drugs to more effectively kill certain leukemia cells.

9 Mar 2023

Pathogenic fungus binds to a human protein to escape elimination from lung cells

The pathogenic fungus Aspergillus fumigatus escapes elimination from surface cells of the human lung by binding to a human protein.

9 Mar 2023

Deeper understanding of T-cell responses may lead to better, more personalized immunotherapies

For the first time, a research team has identified and analyzed the steps by which immune cells "see" and respond to cancer cells, providing insights into reasons some treatments may be effective for certain patients but not others.

9 Mar 2023

Study pinpoints a splicing deregulation that causes therapeutic vulnerability in pediatric AML

Pediatric acute myeloid leukemia or pAML is a childhood blood cancer, one that has proved confounding to clinicians and researchers, with a high relapse rate and relatively few identified genetic mutations (compared to the adult version) that might explain its cause.

8 Mar 2023

Researchers discover how specific mutation in a bacterium results in phage resistance

As antibacterial resistance continues to render obsolete the use of some antibiotics, some have turned to bacteria-killing viruses to treat acute infections as well as some chronic illnesses.

7 Mar 2023

New insights into the underlying mechanism that causes arrhythmogenic cardiomyopathy

Researchers from the group of Eva van Rooij in collaboration with the UMC Utrecht identified a new mutation that leads to the cardiac disease arrhythmogenic cardiomyopathy (ACM).

3 Mar 2023

Uncovering the complete 3D structure of p53 protein

By inducing cell repair or self-destruction, the tumor suppressor protein p53, often known as “the guardian of the genome,” shields the body’s DNA from daily stress or long-term damage.

2 Mar 2023

Women over 50 with genetic BRCA1 or BRCA2 mutation face a high risk of cancer

Although genetic mutations in BRCA1 or BRCA2 are associated with a younger onset of breast and ovarian cancer, women with these genetic mutations continue to face a high risk of cancer incidence after age 50, even if they have not been previously diagnosed with cancer.

27 Feb 2023

New molecular understanding of how head injury may contribute to glioma risk

Researchers from the UCL Cancer Institute have provided important molecular understanding of how injury may contribute to the development of a relatively rare but often aggressive form of brain tumor called a glioma.

27 Feb 2023

Study shows why a specific gene mutation has opposite effects on mice and human cancers

A small but significant metabolic difference between human and mouse lung tumor cells, has been discovered by Weill Cornell Medicine researchers, explaining a discrepancy in previous study results, and pointing toward new strategies for developing cancer treatments.

27 Feb 2023

New model simplifies the understanding of vascular malformations

Our bodies are made up of 60,000 miles of complex pipes that play a vital role in transporting nutrients throughout our bodies, performing waste disposal, and supplying our organs with fresh oxygen and blood.

27 Feb 2023

Single gene controls a switch between two alternative cell fates in sea anemone

When scientists disabled a single regulatory gene in a species of sea anemone, a stinging cell that shoots a venomous miniature harpoon for hunting and self-defense shifted to shoot a sticky thread that entangles prey instead, according to a new study.

24 Feb 2023

Genes can be used to better predict the likelihood of kidney cancer recurrence

A decade-long international study into kidney cancer has shown that doctors can predict the likelihood of a patient's disease returning by looking at DNA mutations in their tumors.

24 Feb 2023

New compound found in cigarette smoke damages human lung cells’ DNA

Once in a while, people are exposed to possibly detrimental substances in the environment or through their habits or diets. For instance, a compound discovered in cigarette and industrial smoke, benzo(a)pyrene (BaP), is responsible to damage DNA.

23 Feb 2023

Scientists accelerate the development of pure genetic lines by inducing mutation

Iowa State University researchers may have solved a long-standing challenge associated with accelerated development of pure genetic lines.

20 Feb 2023

Scientists correct limb length in mouse model of autosomal dominant Robinow Syndrome

Robinow Syndrome is the best known of a set of genetic disorders that affect the growth and development of the skeletal system.

16 Feb 2023

Protein-rich droplets in cells linked to many unresolved diseases

Most proteins localize to distinct protein-rich droplets in cells, also known as "cellular condensates". Such proteins contain sequence features that function as address labels, telling the protein which condensate to move into.

9 Feb 2023

Strata Oncology publishes study validating integrative pan-solid tumor predictor of PD-1/PD-L1 blockade benefit

Strata Oncology, Inc., a next-generation precision oncology company enabling smarter and earlier cancer treatment, today announced the publication of a new peer-reviewed study validating the clinical utility of the company's proprietary pan-solid tumor predictive biomarker for anti-PD-1/PD-L1 checkpoint inhibitor monotherapy benefit, Immunotherapy Response Score (IRS).

8 Feb 2023

Experimental optimization of prime editing to achieve high efficiency

Genome editing technologies have enormous potential for treating genetic diseases. Techniques like the extensively used CRISPR/Cas9 gene scissors target the source of the disease directly in the DNA.

3 Feb 2023

Mutation News and Research

Study identifies a novel rare mutation in gene linked to Harlequin Ichthyosis

Potential therapeutic can synergize with existing drugs to effectively destroy leukemia cells

Pathogenic fungus binds to a human protein to escape elimination from lung cells

Deeper understanding of T-cell responses may lead to better, more personalized immunotherapies

Study pinpoints a splicing deregulation that causes therapeutic vulnerability in pediatric AML

Researchers discover how specific mutation in a bacterium results in phage resistance

New insights into the underlying mechanism that causes arrhythmogenic cardiomyopathy

Uncovering the complete 3D structure of p53 protein

Women over 50 with genetic BRCA1 or BRCA2 mutation face a high risk of cancer

New molecular understanding of how head injury may contribute to glioma risk

Study shows why a specific gene mutation has opposite effects on mice and human cancers

New model simplifies the understanding of vascular malformations

Single gene controls a switch between two alternative cell fates in sea anemone

Genes can be used to better predict the likelihood of kidney cancer recurrence

New compound found in cigarette smoke damages human lung cells’ DNA

Scientists accelerate the development of pure genetic lines by inducing mutation

Scientists correct limb length in mouse model of autosomal dominant Robinow Syndrome

Protein-rich droplets in cells linked to many unresolved diseases

Strata Oncology publishes study validating integrative pan-solid tumor predictor of PD-1/PD-L1 blockade benefit

Experimental optimization of prime editing to achieve high efficiency

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