Mutation News and Research

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New study shows link between defective sucrase-isomaltase gene variants and IBS

Irritable bowel syndrome (IBS) affects a large portion of the general population. New research coordinated by Karolinska Institutet now shows a link between defective sucrase-isomaltase gene variants and IBS.

21 Nov 2016

New study describes role of protein that is crucial for melanoma cell survival

The main goals of the Melanoma Group at the Spanish National Cancer Research Centre are to identify biomarkers of tumour progression and to validate novel therapeutic targets in melanoma.

21 Nov 2016

Scientists capture DNA intermediates that reveal how cancer evolves

Scientists from Rice University, Baylor College of Medicine and other institutions are using synthetic biology to capture elusive, short-lived snippets of DNA that healthy cells produce on their way to becoming cancerous.

18 Nov 2016

Implementation of large-scale genomic tumor profiling viable but faces several challenges

Researchers leading the largest genomic tumor profiling effort of its kind say such studies are technically feasible in a broad population of adult and pediatric patients with many different types of cancer, and that some patients can benefit by receiving precision drugs targeted to their tumors' mutations or being enrolled in clinical trials.

18 Nov 2016

BAG3 protein plays protective role by limiting reperfusion injury to the heart

The inability of cells to eliminate damaged proteins and organelles following the blockage of a coronary artery and its subsequent re-opening with angioplasty or medications - a sequence known as ischemia/reperfusion - often results in irreparable damage to the heart muscle.

17 Nov 2016

HC-based NGS helps detect genomic alterations not identified in routine lung cancer screening

The use of hybrid capture-based (HC-based) next-generation sequencing (NGS) to identify targetable oncogenic drivers in patients with lung adenocarcinoma results in the detection of genomic alterations (GAs) not identified in routine screening, and impacts treatment decisions and clinical outcomes.

17 Nov 2016

Researchers need to know more about proinsulin misfolding to better understand diabetes

According to the World Health Organization, 422 million adults across the globe have diabetes. In fact, the number of adults with the disease continues to grow each year.

17 Nov 2016

Scientists identify mutations in three genes linked to uncombable hair syndrome

Some children suffer from completely tangled hair, which cannot be combed at all. In German, the phenomenon bears the apt name "uncombable hair syndrome" or even "Struwwelpeter syndrome".

17 Nov 2016

Researchers create temporal and spatial atlas that plots development of mouse heart

It's not simple, making a heart. In the womb, the organ begins as a tube, sprouts bead-like lumps, folds in on itself and eventually morphs into the more familiar-looking four-chambered structure.

17 Nov 2016

Discovery of novel protein could lead to potential new treatments for age-related retinal disease

The discovery of a novel protein that links aging and age-dependent retinal diseases could lead to potential new treatments for conditions that cause sight loss in later life.

15 Nov 2016

Research shows FOXP2 protein affects vocal production of all mammals, not just humans

Our current understanding is that mice have either no -- or extremely limited -- neural circuitry and genes similar to those that regulate human speech. According to a recent study published in Frontiers in Behavioral Neuroscience, this understanding may be incorrect.

15 Nov 2016

TSRI scientists uncover clues to abnormal brain connections in autism

Autism is an agonizing puzzle, a complex mixture of genetic and environmental factors. One piece of this puzzle that has emerged in recent years is a biochemical cascade called the mTOR pathway that regulates growth in the developing brain.

15 Nov 2016

Retinitis pigmentosa can be slowed by reprogramming metabolism of photoreceptors, study shows

Columbia University Medical Center researchers have demonstrated that vision loss associated with a form of retinitis pigmentosa (RP) can be slowed dramatically by reprogramming the metabolism of photoreceptors, or light sensors, in the retina.

15 Nov 2016

Scientists discover link between genetic mutation and rare heart muscle disease

A strong association between a genetic mutation and a rare kind of heart muscle disease has been discovered by researchers at the University of Colorado Anschutz Medical Campus.

15 Nov 2016

Stem-cell-derived gap junction cells could be important therapeutic target for treatment of hereditary deafness

A collaboration, including researchers from Juntendo University, demonstrate differentiation from stem cells into specialised cells thought to be the most important therapeutic target for the treatment of hereditary deafness.

14 Nov 2016

Rice University scientists uncover new clues to cause of Huntington's disease

Rice University scientists have uncovered new details about how a repeating nucleotide sequence in the gene for a mutant protein may trigger Huntington's and other neurological diseases.

11 Nov 2016

NSU researchers learn more about Gulf War illness to help veterans

As the nation honors our veterans on November 11, we must pause to remember the long-lasting health effects soldiers experience not only from bullets or bombs, but from exposure to unexplained pesticides, radiation or other toxins during their time in the service.

11 Nov 2016

Scientists identify genetic mutations in highly aggressive rhabdoid meningiomas

Meningiomas are the most common primary brain tumors, but the term encompasses over a dozen subtypes that range from benign to highly aggressive.

10 Nov 2016

Bone gene in mammals may take additional role to promote cognition in humans

A gene that regulates bone growth and muscle metabolism in mammals may take on an additional role as a promoter of brain maturation, cognition and learning in human and nonhuman prim ates, according to a new study led by neurobiologists at Harvard Medical School.

9 Nov 2016

Certain anti-diabetic drugs can switch off molecule that plays key role in inflammatory diseases

A molecule thought to play a key role in some inflammatory diseases can be switched off by two widely used medicines, new research has shown.

9 Nov 2016

Mutation News and Research

New study shows link between defective sucrase-isomaltase gene variants and IBS

New study describes role of protein that is crucial for melanoma cell survival

Scientists capture DNA intermediates that reveal how cancer evolves

Implementation of large-scale genomic tumor profiling viable but faces several challenges

BAG3 protein plays protective role by limiting reperfusion injury to the heart

HC-based NGS helps detect genomic alterations not identified in routine lung cancer screening

Researchers need to know more about proinsulin misfolding to better understand diabetes

Scientists identify mutations in three genes linked to uncombable hair syndrome

Researchers create temporal and spatial atlas that plots development of mouse heart

Discovery of novel protein could lead to potential new treatments for age-related retinal disease

Research shows FOXP2 protein affects vocal production of all mammals, not just humans

TSRI scientists uncover clues to abnormal brain connections in autism

Retinitis pigmentosa can be slowed by reprogramming metabolism of photoreceptors, study shows

Scientists discover link between genetic mutation and rare heart muscle disease

Stem-cell-derived gap junction cells could be important therapeutic target for treatment of hereditary deafness

Rice University scientists uncover new clues to cause of Huntington's disease

NSU researchers learn more about Gulf War illness to help veterans

Scientists identify genetic mutations in highly aggressive rhabdoid meningiomas

Bone gene in mammals may take additional role to promote cognition in humans

Certain anti-diabetic drugs can switch off molecule that plays key role in inflammatory diseases

Event guide: 4th Extra-Hepatic Lipid-Based Nanoparticles Delivery Summit eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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