Mutation News and Research

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New strategy identified to address the underlying cause of LAD1 patients' symptoms

Owing to a rare genetic mutation, individuals with leukocyte adhesion deficiency type 1 (LAD1) experience a suite of symptoms that trace back to an immune system dysfunction.

27 May 2020

New data may help understand the evolution of Austrian SARS-CoV-2 strains

216 SARS-CoV-2 genome sequences have now been completed and released in the framework of the "Mutational Dynamics of SARS-CoV-2 in Austria" project from CeMM, the Research Center for Molecular Medicine of the Austrian Academy of Sciences, in close collaboration with the Medical University of Vienna, the Medical University of Innsbruck and the Austrian Agency for Health and Food Safety (AGES).

27 May 2020

New genomic method helps obtain high-resolution maps of DNA in the cell nucleus

Researchers at Karolinska Institutet in Sweden have developed a new sequencing method that makes it possible to map how DNA is spatially organised in the cell nucleus - revealing which genomic regions are at higher risk of mutation and DNA damage.

26 May 2020

Study: Gene mutation disrupts sexual behavior in zebrafish

When University of Ottawa biologists Kim Mitchell and Vance Trudeau began studying the effects of gene mutations in zebrafish, they uncovered new functions that regulate how males and females interact while mating.

26 May 2020

Newly identified gene may have contributed to rapid evolution of COVID-19

An international team of researchers has identified a previously uncharacterized gene within the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) genome that may be important in understanding the origins and evolution of coronavirus disease 2019 (COVID-19).

25 May 2020

How 'superspreaders' impact COVID-19

A new study published on the preprint server medRxiv in May 2020 reflects the need to rethink and selectively impose lockdown on some but not all social activities, in the light of the impact of superspreaders on disease transmission.

24 May 2020

Platinum-based chemotherapy may improve outcomes for some metastatic pancreatic cancer patients

Patients with metastatic pancreatic cancer who had germline or somatic mutations in DNA repair genes had better clinical outcomes after platinum-based chemotherapy, as compared with patients without these mutations.

22 May 2020

Prediction of incubation period for COVID-19 and other viruses

A new study published on the preprint server bioRxiv* in May 2020 provides a method to estimate the incubation period for any new pathogen, which could help to define the optimal quarantine period necessary to keep the spread of the causative agent in check.

22 May 2020

Distribution of human tumor mutations more similar to that of chimpanzees, gorillas

A new study by researchers from the Institute of Evolutionary Biology (IBE), a joint centre of UPF and the Spanish National Research Council (CSIC), shows that, surprisingly, the distribution of mutations in human tumours is more similar to that of chimpanzees and gorillas than that of humans.

21 May 2020

Mutations in SARS-CoV-2 may explain its dominance and spread

Researchers at Dokuz Eylül University, Turkey, have identified mutations in the genome of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that may have contributed to its dominance in Europe and elsewhere.

21 May 2020

UBC scientists discover gene that plays a role in resisting weight gain

Why can some people eat as much as they want, and still stay thin?

21 May 2020

Scientists use new model to develop cancer stem cells

Liver cancer is one of the deadliest cancers. It is insidious and does not present symptoms until it has progressed considerably, at which point, treatment options are limited and chances of survival are low. The most common type of liver cancer is hepatocellular carcinoma (HCC).

21 May 2020

New technique reveals potentially treatable mutations in subset of prostate cancer patients

Prostate cancer patients who do not respond well to PSMA-targeted therapy often have potentially treatable mutations in their DNA damage-repair genes, according to research published in the May issue of The Journal of Nuclear Medicine.

20 May 2020

Study shows engineered SARS-CoV-2 spike protein may be utilized for vaccine development

In a new study available on the preprint server bioRxiv, researchers demonstrate how the conformation of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spike protein (S-protein) can be controlled with the rational construct design, providing a framework for S-protein structure engineering in vaccine/drug development.

20 May 2020

Gene mutation linked to MEF2C haploinsufficiency syndrome

A collaboration between scientists at the Medical University of South Carolina and clinicians at the Greenwood Genetic Center has yielded new findings about how a particular gene might regulate brain development.

19 May 2020

SWOG scientists to deliver online presentations at ASCO20 Virtual Scientific Program

Researchers from SWOG, a cancer clinical trials group funded by the National Cancer Institute (NCI), part of the National Institutes of Health, will make 31 presentations as part of the ASCO20 Virtual Scientific Program, the online annual meeting of the American Society of Clinical Oncology (ASCO), which runs May 29-31.

19 May 2020

Study shows how RNA editing affects the replication of COVID-19 virus

Two human deaminase enzymes edit the RNA of the SARS-CoV-2 virus when it enters a patient's body, with implications for the evolution of the virus and the spread of the infection, according to a new study.

19 May 2020

Study shows how cancer protein changes may accelerate tumorigenesis and metastasis

Understanding the genetic mutations and protein changes that take place in the progression of cancer is key to its treatment. Mutations in the gene TP53 and concomitant mutant p53 proteins in cancer cells have become notorious over the course of multiple studies of several different types of cancers.

18 May 2020

Common mutations in SARS-CoV-2 related to non-variable segments of structural proteins

The ongoing severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic is thought to have originated from an animal species, most likely bats, which succeeded in crossing over to humans. However, the exact species of origin has not yet been confirmed.

18 May 2020

Researchers reveal the molecular biology behind Hyaline Fibromatosis Syndrome

Hyaline Fibromatosis Syndrome (HFS) is a rare but severe genetic disease that affects babies, children, and adults. Hyaline, a glassy substance, accumulates in the skin and various organs, and causes painful deformities that can lead to an early death.

18 May 2020

Mutation News and Research

New strategy identified to address the underlying cause of LAD1 patients' symptoms

New data may help understand the evolution of Austrian SARS-CoV-2 strains

New genomic method helps obtain high-resolution maps of DNA in the cell nucleus

Study: Gene mutation disrupts sexual behavior in zebrafish

Newly identified gene may have contributed to rapid evolution of COVID-19

How 'superspreaders' impact COVID-19

Platinum-based chemotherapy may improve outcomes for some metastatic pancreatic cancer patients

Prediction of incubation period for COVID-19 and other viruses

Distribution of human tumor mutations more similar to that of chimpanzees, gorillas

Mutations in SARS-CoV-2 may explain its dominance and spread

UBC scientists discover gene that plays a role in resisting weight gain

Scientists use new model to develop cancer stem cells

New technique reveals potentially treatable mutations in subset of prostate cancer patients

Study shows engineered SARS-CoV-2 spike protein may be utilized for vaccine development

Gene mutation linked to MEF2C haploinsufficiency syndrome

SWOG scientists to deliver online presentations at ASCO20 Virtual Scientific Program

Study shows how RNA editing affects the replication of COVID-19 virus

Study shows how cancer protein changes may accelerate tumorigenesis and metastasis

Common mutations in SARS-CoV-2 related to non-variable segments of structural proteins

Researchers reveal the molecular biology behind Hyaline Fibromatosis Syndrome

Industry Focus eBook - Cell & Gene Therapy (1st Edition) eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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