Mutation News and Research

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Biological underpinnings of a reproductive disorder caused by mutation of autism gene

A University of California, Riverside, study has identified the biological underpinnings of a reproductive disorder caused by the mutation of a gene.

5 Apr 2023

New software tool uses genetic data to improve cancer modeling technology

Lifestyle behaviors such as eating well and exercising can be significant factors in one's overall health. But the risk of developing cancer is predominantly at the whim of an individual's genetics.

4 Apr 2023

Research uncovers the root cause of adverse health effects from circadian rhythm disruption

New research at the University of Massachusetts Amherst zeroes in on the root cause of adverse health effects from disruption of the body's circadian rhythms, which typically occurs from jet lag and rotating work shifts.

4 Apr 2023

Researchers elucidate how a single mutation causes episodic ataxia type 6

Worldwide, only a handful of patients are known to suffer from episodic ataxia type 6, a neurological disease that causes transient loss of muscle control.

3 Apr 2023

What is currently known about the mechanisms by which DNA tumor viruses evade uracil-mediated antiviral immunity?

Researchers reviewed the existing knowledge on the mechanisms through which DNA tumor viruses evade the antiviral immunity mediated through mis-incorporated uracil (U).

3 Apr 2023

Tighter core of SARS-CoV-2 spike protein in new variants may have increased the virus's fitness

Just as a tight core is a component of good physical fitness for humans, helping to stabilize our bodies, mutations that tightened the core of the SARS-CoV-2 spike protein in new variants may have increased the virus's fitness.

31 Mar 2023

Transposable elements in various cancers could be used to harness novel immunotherapies

New research from Washington University School of Medicine in St. Louis suggests that transposable elements in various cancers potentially may be used to harness novel immunotherapies against tumors that don't typically respond to immune-based treatments. Shown is a 3D rendering of cancer cells.

31 Mar 2023

Researchers create a visualization of the full-length human BRCA2 protein at single molecule level

Using a self-built inverted microscope complete with laser optical tweezers to capture DNA, Yale Cancer Center and University of California Davis researchers for the first time created a visualization of the full-length human BRCA2 protein at the single molecule level.

31 Mar 2023

New insights and emerging disease-modifying drugs for Alzheimer’s disease treatment

A recent review published in Biochemical Pharmacology summarized the ongoing research, providing insights into pathophysiology and emerging drugs for Alzheimer’s disease (AD).

31 Mar 2023

New type of nanoparticle can deliver messenger RNA encoding useful proteins to the lungs

Engineers at MIT and the University of Massachusetts Medical School have designed a new type of nanoparticle that can be administered to the lungs, where it can deliver messenger RNA encoding useful proteins.

30 Mar 2023

Study finds minimal impact of SARS-CoV-2 genome variability on current diagnostic molecular systems

The authors of a new study under review at the journal Scientific Reports and currently posted to the Research Square preprint* server proposed a novel analysis pipeline to help identify mutations in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reverse transcription-polymerase chain reaction (RT-PCR) primer regions.

29 Mar 2023

Study finds correlations between how and which organ systems are affected in individuals with new epileptic disorder

A recent study from Texas Children's Hospital and Baylor College of Medicine has expanded the clinical spectrum of a new epileptic disorder called Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay (IDDMSSD) with the identification of the first recurrently affected residue identified in the protein kinase domain of PAK1 protein.

29 Mar 2023

FDA-approved drug keeps light-sensitive photoreceptors alive in lab models of LCA 10

A National Institutes of Health team has identified a compound already approved by the U.S. Food and Drug Administration that keeps light-sensitive photoreceptors alive in three models of Leber congenital amaurosis type 10 (LCA 10), an inherited retinal ciliopathy disease that often results in severe visual impairment or blindness in early childhood.

29 Mar 2023

Targeting obesity: findings reveal a new molecular pathway involved in energy homeostasis regulation

Study outlines molecular mechanisms to aid the development of new therapies to manage obesity and associated health disorders.

29 Mar 2023

Clockwork in cancer: the importance of the circadian rhythm in the formation and progression of tumors

Researchers reviewed the importance of the circadian rhythm in the formation and progression of tumors.

29 Mar 2023

The rise of Candida auris: Understanding its origin and persistence

In a recent study published in the PLOS Pathogens journal, researchers from the University of Texas Health Science Center at San Antonio in the United States (US) explored the existing perspectives on the origination, resistance, and transmission of Candida auris, a human fungal pathogen.

28 Mar 2023

NIH scientists discover an autoinflammatory disease caused by mutations in the LYN gene

Scientists have identified an autoinflammatory disease caused by mutations in the LYN gene, an important regulator of immune responses in health and disease.

28 Mar 2023

Using a long-read approach to gain better understanding of DNA mutations in cancer genomes

Looking to learn more from genomics sequencing about DNA mutations and cancer, researchers applied a long-read approach to get a broader genomic view.

27 Mar 2023

Beethoven's cause of death revealed through DNA analysis of his hair

In a recent article published in the journal Current Biology, an international team of researchers sequenced the whole genome to high coverage from eight authenticated hair strands from Ludwig van Beethoven, one of the most influential European classical music composers born in 1770. He died on March 27, 1827.

27 Mar 2023

Cryo-EM provides structural insights into a specific protein involved in Hailey-Hailey disease

Hailey-Hailey disease is a rare, inherited condition characterized by patches of blisters appearing mainly in the skin folds of the arm pits, groin and under the breasts.

24 Mar 2023

Mutation News and Research

Biological underpinnings of a reproductive disorder caused by mutation of autism gene

New software tool uses genetic data to improve cancer modeling technology

Research uncovers the root cause of adverse health effects from circadian rhythm disruption

Researchers elucidate how a single mutation causes episodic ataxia type 6

What is currently known about the mechanisms by which DNA tumor viruses evade uracil-mediated antiviral immunity?

Tighter core of SARS-CoV-2 spike protein in new variants may have increased the virus's fitness

Transposable elements in various cancers could be used to harness novel immunotherapies

Researchers create a visualization of the full-length human BRCA2 protein at single molecule level

New insights and emerging disease-modifying drugs for Alzheimer’s disease treatment

New type of nanoparticle can deliver messenger RNA encoding useful proteins to the lungs

Study finds minimal impact of SARS-CoV-2 genome variability on current diagnostic molecular systems

Study finds correlations between how and which organ systems are affected in individuals with new epileptic disorder

FDA-approved drug keeps light-sensitive photoreceptors alive in lab models of LCA 10

Targeting obesity: findings reveal a new molecular pathway involved in energy homeostasis regulation

Clockwork in cancer: the importance of the circadian rhythm in the formation and progression of tumors

The rise of Candida auris: Understanding its origin and persistence

NIH scientists discover an autoinflammatory disease caused by mutations in the LYN gene

Using a long-read approach to gain better understanding of DNA mutations in cancer genomes

Beethoven's cause of death revealed through DNA analysis of his hair

Cryo-EM provides structural insights into a specific protein involved in Hailey-Hailey disease

Industry Focus eBook - Neurology/Neuroscience - 2nd edition eBook

Improving healthcare sustainability through carbon data

A New Approach to Preventing Bladder Cancer Recurrence

Bringing real-time analytics to downstream bioprocess monitoring

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