Mutation News and Research

RSS

Study uncovers new gene variants that may cause inherited retinal dystrophies

An international team of researchers, led by scientists at University of California San Diego and Shiley Eye Institute at UC San Diego Health, has broadened and deepened understanding of how inherited retinal dystrophies (IRDs) affect different populations of people and, in the process, have identified new gene variants that may cause the diseases.

20 Oct 2021

Researchers identify novel cytokinin signaling component

The classical historic plant hormones, cytokinins, regulate different aspects of plant growth and development. These include crucial agronomic traits like grain number in rice.

19 Oct 2021

New statistical study reveals the constraints and directions in protein evolution

A recent statistical study has revealed some of the constraints and directions in the evolution of the structure and function of proteins.

15 Oct 2021

Study identifies DNA mutations that impact metabolism and insulin sensitivity in liver disease patients

For the first time, DNA mutations in liver cells have been identified that impact metabolism and insulin sensitivity in patients with liver disease.

15 Oct 2021

Researchers reconstitute the biological clock to better understand circadian rhythms

Daily cycles in virtually every aspect of our physiology are driven by biological clocks (also called circadian clocks) in our cells.

From University of California Santa Cruz 8 Oct 2021

Supercomputer-driven dynamic model reveals hidden process in X chromosome inactivation

Using supercomputer-driven dynamic modeling based on experimental data, researchers can now probe the process that turns off one X chromosome in female mammal embryos.

5 Oct 2021

Study pinpoints means to restore the efficacy of drugs for acute myeloid leukemia

Researchers elucidate why certain drugs, in clinical trials, for treating a kind of acute myeloid leukemia often fail and revealed a means to restore their efficacy.

1 Oct 2021

Study adds two new genetic variants to the list of glutamate receptor mutations

Researchers from Northwestern Medicine distinguished different variants of the gene GRIK2 that induces nonsyndromic neurodevelopmental disorder (NDD).

27 Sep 2021

New map provides a reference to predict which antibodies are effective against SARS-CoV-2

Scientists at La Jolla Institute for Immunology have published a detailed map of where human antibodies bind to SARS-CoV-2, a map that was generated by a global collaboration comparing nearly all leading clinical candidates.

24 Sep 2021

Study reveals how the tumor suppressor gene plays a vital role in pediatric rhabdomyosarcoma

Scientists at St. Jude Children's Research Hospital have revealed how the tumor suppressor gene PTEN plays a more important role in pediatric rhabdomyosarcoma than was previously appreciated.

20 Sep 2021

Combining bacteriophages with antibiotics to treat antibiotic-resistant infections

Mycobacterium abscessus, a relative of the bacteria that cause tuberculosis and leprosy, is responsible for particularly severe damage to human lungs and can be resistant to many standard antibiotics, making infections extremely challenging to treat.

17 Sep 2021

Researchers reveal why nerve cell’s protein production slows down in CMT patients

A team led by MDC researcher Marina Chekulaeva has figured out why protein production slows down in the nerve cells of people suffering from Charcot-Marie-Tooth disease. This discovery could lead to a new therapeutic approach, the scientists report in the journal "Nucleic Acids Research".

16 Sep 2021

Loss of natural HIV control preceded by functional impairment of T cells

HIV is a master of evading the immune system, using a variety of methods to prevent the body from being able to find and kill it.

13 Sep 2021

Study imparts mechanistic understanding on early stages of human cancer

Scientists demonstrated that normal human fibroblast cells can be converted to specific cancer cells through factors that are identified in actual human patients.

9 Sep 2021

Study details replication and immune evasion of Delta SARS-CoV-2 variant

According to scientists, the Delta variant of SARS-CoV-2 has likely spread through its capability to avoid neutralizing antibodies and its heightened infectivity.

8 Sep 2021

New approach could lead to better treatments for mitochondrial diseases

Mutant DNA sequences inside cellular mitochondria can be eliminated using a bespoke chemical compound. The approach, developed by scientists at Kyoto University's Institute for Integrated Cell-Material Science (iCeMS) in Japan, could lead to better treatments for mitochondrial diseases.

31 Aug 2021

Genome editing tool used to render male mosquitoes infertile and slow disease spread

Mosquitos spread viruses that cause potentially deadly diseases such as Zika, dengue fever and yellow fever. New U.S. Army-funded research uses gene editing to render certain male mosquitoes infertile and slow the spread of these diseases.

24 Aug 2021

Study reveals the biology and treatment behind rare rheumatoid-like autoinflammatory condition

The absence of a protein that activates the body's antiviral defenses can cause a rare rheumatoid-like autoinflammatory condition that is treatable with an FDA-approved class of drugs known as TNF (tumor necrosis factor) inhibitors, a global research team led by Mount Sinai has found.

20 Aug 2021

Novel genome-editing technology to mitigate Alzheimer’s disease

Around 500,000 patients in China alone are considered to be living with a hereditary form of Alzheimer’s disease (AD).

19 Aug 2021

Study describes a new method for identifying sperm mutations that can cause disease in children

Throughout development, life and the processes of aging, all human cells accumulate mutations, resulting in what is called mosaicism, a condition in which different cells in the same person have different DNA sequences or genetic makeup.

16 Aug 2021