Mutation News and Research

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Truncating mutation locations tied to diversity, severity of autism symptoms

One of the most recognizable characteristics of autism is an amazing diversity of associated behavioral symptoms. Clinicians view autism as a broad spectrum of related disorders, and the origin of the disease's heterogeneity has puzzled scientists, doctors, and affected families for decades.

22 Dec 2020

Researchers detect novel IRAK4 mutations in infant with encephalitis and HHV6 reactivation

An infant's odd case of rare encephalitis not typically found in children led researchers to discover never before seen genetic mutations and a more accurate technique to examine the IRAK4 gene responsible for innate immunity.

22 Dec 2020

Researchers establish BRIDGES program to synergize diagnostic efforts, patient outcome management

For over 20 years, the Genetics Service at the KK Women's and Children's Hospital (KKH) has been providing clinical care to patients with genetic disorders.

22 Dec 2020

Study depicts previously unknown molecular mechanism underlying healthy brain development

A research team led by Michael Fox, a professor at the Fralin Biomedical Research Institute at VTC, has identified the type of brain cell that produces collagen 19, a protein that is crucial for the formation of inhibitory circuits in the brain.

21 Dec 2020

Study highlights the far-reaching effects of mutagenic compounds on human health

In order to survive, flourish and successfully reproduce, organisms rely on a high degree of genetic stability. Mutagenic agents, which can threaten the integrity of the genetic code by causing mutations in DNA, pose a serious risk to human health.

21 Dec 2020

Study provides new insights into the molecular underpinnings of Duchenne muscular dystrophy

A UT Southwestern research team has catalogued gene activity in the skeletal muscle of mice, comparing healthy animals to those carrying a genetic mutation that causes Duchene muscular dystrophy (DMD) in humans.

21 Dec 2020

The weak spot of colon cancer stem cells

Colon cancer stem cells have one weak spot: the enzyme Mll1. An MDC team led by Walter Birchmeier has now shown in Nature Communications that blocking this protein prevents the development of new tumors in the body.

21 Dec 2020

Researchers discover novel mechanism by which cells turn over mitochondria

Mitochondria are cellular organelles that generate most of the energy cells need to function, and thus play an important role in maintaining cell health.

21 Dec 2020

South Korean city shows SARS-CoV-2 clade shift from V to GH over time

A new paper from South Korea describes the evolving SARS-CoV-2 genome in a single city, that of Gwangju, in the southwestern region of this country.

21 Dec 2020

Researchers discover more accurate technique to study gene responsible for innate immunity

20 Dec 2020

FDA approves first adjuvant treatment for patients with non-small cell lung cancer

Today, the U.S. Food and Drug Administration approved Tagrisso (osimertinib) as the first adjuvant treatment for patients with non-small cell lung cancer whose tumors have a specific type of genetic mutation.

18 Dec 2020

Research at Advanced Photon Source laid the groundwork for effective COVID-19 vaccines

There is light at the end of the COVID-19 pandemic tunnel. Several vaccines against the SARS-CoV-2 virus that causes COVID-19 are now in clinical trials, with one -- developed by Pfizer/BioNTech -- already having been approved for emergency use in the United States.

18 Dec 2020

Antifungal drug improves key biomarkers in the noses of patients with cystic fibrosis

A drug widely used to treat fungal infections improved key biomarkers in lung tissue cultures as well as in the noses of patients with cystic fibrosis, a clinical study by researchers at the University of Illinois Urbana-Champaign and the University of Iowa found.

17 Dec 2020

Scientists develop an enhanced version of phototoxic protein

Scientists from Skoltech, the Institute of Bioorganic Chemistry of RAS, and the London Institute of Medical Sciences (LMS) have developed an enhanced version of SuperNova, a genetically encoded phototoxic synthesizer, that helps control intracellular processes by light exposure.

17 Dec 2020

Mutation News and Research

Truncating mutation locations tied to diversity, severity of autism symptoms

Researchers detect novel IRAK4 mutations in infant with encephalitis and HHV6 reactivation

Researchers establish BRIDGES program to synergize diagnostic efforts, patient outcome management

Study depicts previously unknown molecular mechanism underlying healthy brain development

Study highlights the far-reaching effects of mutagenic compounds on human health

Study provides new insights into the molecular underpinnings of Duchenne muscular dystrophy

The weak spot of colon cancer stem cells

Researchers discover novel mechanism by which cells turn over mitochondria

South Korean city shows SARS-CoV-2 clade shift from V to GH over time

Researchers discover more accurate technique to study gene responsible for innate immunity

FDA approves first adjuvant treatment for patients with non-small cell lung cancer

Research at Advanced Photon Source laid the groundwork for effective COVID-19 vaccines

Antifungal drug improves key biomarkers in the noses of patients with cystic fibrosis

Scientists develop an enhanced version of phototoxic protein

Gene surfing caused the SARS-CoV-2 D614G variant to rise to dominance in the US

SARS-CoV-2 spike deletion ΔH69/ΔV70 shows repeated emergence and spread

Researchers explain the role of enzyme that facilitates appropriate development of mouse embryo

A new approach to identify genomic regions in our brain that contribute to make us human

Potency of neutralizing antibodies predicts COVID-19 severity and survival

Clemson grad student focuses on studying how genes interact in a normal brain

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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