Mutation News and Research

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Study shows how a common gene mutation robs people of natural cancer protection

Scientists from the University of Virginia School of Medicine have identified how a common gene mutation deprives people of natural protection against cancer.

15 Nov 2021

Scientists discover new genetic link to non-alcoholic inflammatory liver disease

Non-alcoholic fatty liver disease (NAFLD) is the accumulation of fat in the liver unrelated to alcohol abuse or other liver diseases.

11 Nov 2021

Researchers identify a gene in wheat with profound effects on the production of seeds

Scientists from the John Innes Centre have identified a gene that has deep-rooted effects on seed production in wheat.

10 Nov 2021

Genetic analysis reveals the deep homology between fins and limbs

All vertebrates have the same basic body plan: head, spine, four appendages. Those appendages vary greatly in size, shape, and function, of course -; from fins to wings, arms, and legs -; but a new genetic analysis shows that genes that control development at the ends of the appendages share a deep evolutionary history.

9 Nov 2021

Novel algorithm pinpoints genes associated with related genetic diseases

Scientists recently discovered almost two dozen genes that contribute to heart defects while analyzing genetic data from individuals.

8 Nov 2021

Researchers investigate how brain's immune cells relate to a gene mutation in Alzheimer's disease

When immune cells move throughout the brain, they act as the first line of defense against viruses, toxic materials and damaged neurons, rushing over to clear out them.

8 Nov 2021

Scientists identify gene crucial to sperm cell production

Scientists at Cincinnati Children's appear to have flipped another piece in the underexplored puzzle of male infertility.

27 Oct 2021

'Mini brains' allow researchers to study a fatal, untreatable neurological disorder

Cambridge researchers have developed 'mini brains' that allow them to study a fatal and untreatable neurological disorder causing paralysis and dementia – and for the first time have been able to grow these for almost a year.

22 Oct 2021

Study pinpoints the mutational hotspots in DNA

Recent research at the University of Bath reveals that tangles in unwound DNA can develop mutational hotspots in the genomes of bacteria.

From University of Bath 21 Oct 2021

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