Phenotype News and Research

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Kinase-inactive BRAF mutation triggers lung adenocarcinoma development

The initiating oncogenic event in almost half of human lung adenocarcinomas is still unknown, a fact that complicates the development of selective targeted therapies.

2 Aug 2017

Expert outlines pros and cons of ordering various genetic tests

The amount of information gathered via next-generation sequencing has made the diagnosis of genetic disorders quicker and more accessible to clinicians than ever before, but with expanded testing options come questions about ordering the correct type of testing.

2 Aug 2017

DNA-sensing mechanism of innate immune system controls cellular senescence

Cells in the body or in cultures eventually stop replicating. This phenomenon is called "senescence" and is triggered by shortening of telomeres, oxidative stress or genetic damage to the cells, either acute or simply due to the cell growing "old".

31 Jul 2017

New approach may improve translation of immunological research findings

Mouse models have advanced our understanding of immune function and disease in many ways but they have failed to account for the natural diversity in human immune responses.

27 Jul 2017

New eye test could help identify people with ASD

A new study out in European Journal of Neuroscience could herald a new tool that helps physicians identify a sub-group of people with Autism spectrum disorders

24 Jul 2017

ASU-TGen researchers find source of altered ANK1 gene expression linked to Alzheimer's disease

Researchers led by Arizona State University and the Translational Genomics Research Institute have identified altered expression of a gene called ANK1, which only recently has been associated with memory robbing Alzheimer's disease, in specific cells in the brain.

14 Jul 2017

Researchers detect new gene mutation linked to Fanconi anemia

Fanconi anemia is a rare genetic disease characterized by bone marrow failure heralded by low platelet counts and unusually large red blood cells.

14 Jul 2017

Jaw malformations in zebrafish could provide clues about hearing loss in mice and humans

Can a fish with a malformed jaw tell us something about hearing loss in mice and humans? The answer is yes, according to a new publication in Scientific Reports.

31 May 2017

Research uncovers role of gut microbiota in anti-obesity effects of dietary capsaicin

Scientists have discovered a dietary strategy that may address obesity by reducing endotoxemia, a major contributor to chronic, low-grade inflammation (CLGI).

23 May 2017

Sperm epigenetics and fertility

Epigenetics is a system of information that lies atop DNA to control which genes are accessible, active and inactive. Each cell in your body essentially has identical DNA, but they have different patterns of expression.

18 May 2017

Study unravels new clues to cause and treatment of spinal muscular atrophy

Spinal muscular atrophy, a neurodegenerative disease that causes progressive muscle wasting and paralysis, may be partly due to abnormalities in the synapses that connect sensory neurons and motor neurons, according to researchers at Columbia University Medical Center.

16 May 2017

Chemical stimuli by small molecule can improve production of cartilage cells

Cell-based therapies could offer a way to treat cartilage injuries before the ultimate damage of osteoarthritis on articular cartilage.

11 May 2017

Study findings suggest how progranulin deficiency causes frontotemporal dementia

In a recent study in Human Molecular Genetics, researchers from VIB and KU Leuven led by prof. Philip Van Damme, reveal a novel function for progranulin in lysosomes: it acts as chaperone of the lysosomal protease cathepsin D. The results were obtained in collaboration with Prof. Paul Saftig from the University of Kiel.

8 May 2017

Study identifies expression of tumor antigen as marker for aggressive ovarian cancer

Patients who expressed the tumor antigen NY-ESO-1 had more aggressive cancers and were more likely to die early from their disease, according to a large study conducted by Roswell Park Cancer Institute researchers and published online ahead of print in the journal Gynecologic Oncology.

26 Apr 2017

Study shows how gut microbiota may play role in effectiveness of chemotherapy drugs

The bacteria residing in your digestive tract, or your gut microbiota, may play an important role in your ability to respond to chemotherapy drugs in the clinic, according to a new study by scientists at the University of Massachusetts Medical School.

25 Apr 2017

Positive CHMP opinion recognizes efficacy of Biogen’s SPINRAZA for treatment of spinal muscular atrophy

Biogen today announced the Committee for Medicinal Products for Human Use of the European Medicines Agency adopted a positive opinion recommending the granting of a marketing authorization for SPINRAZA to treat patients with spinal muscular atrophy (SMA).

21 Apr 2017

Phenotype News and Research

Kinase-inactive BRAF mutation triggers lung adenocarcinoma development

Expert outlines pros and cons of ordering various genetic tests

DNA-sensing mechanism of innate immune system controls cellular senescence

New approach may improve translation of immunological research findings

New eye test could help identify people with ASD

ASU-TGen researchers find source of altered ANK1 gene expression linked to Alzheimer's disease

Researchers detect new gene mutation linked to Fanconi anemia

Jaw malformations in zebrafish could provide clues about hearing loss in mice and humans

Research uncovers role of gut microbiota in anti-obesity effects of dietary capsaicin

Sperm epigenetics and fertility

Study unravels new clues to cause and treatment of spinal muscular atrophy

Chemical stimuli by small molecule can improve production of cartilage cells

Study findings suggest how progranulin deficiency causes frontotemporal dementia

Study identifies expression of tumor antigen as marker for aggressive ovarian cancer

Study shows how gut microbiota may play role in effectiveness of chemotherapy drugs

Positive CHMP opinion recognizes efficacy of Biogen’s SPINRAZA for treatment of spinal muscular atrophy

Scientists discover how insulin-producing cells show differences in age

Overweight, obese workers more likely to take sick leave, study shows

MSU and Venn Therapeutics develop promising therapy to delay B16 melanoma tumor growth

Cellular markers of aging could reveal how insulin-producing cells begin to fail in type 2 diabetes

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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