News tagged with cellular mutations
Increased stability of a misfolded protein linked to age of onset of common form of motor neuron disease
Neurodegenerative diseases are characterized by the aggregation of misfolded proteins, which accumulate to form insoluble clumps within or around nerve cells. In the adult motor neuron disease amyotrophic ...
Medical research
Apr 22, 2013 |
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Protein's well-known cousin sheds light on its gout-linked relative
Johns Hopkins scientists have found out how a gout-linked genetic mutation contributes to the disease: by causing a breakdown in a cellular pump that clears an acidic waste product from the bloodstream. By comparing this ...
Medical research
Apr 08, 2013 |
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Study demonstrates effects of mutant IDH1 and IDH2 inhibitors in primary tumor models
Agios Pharmaceuticals announced today the publication of two articles in the journal Science by Agios scientists and their collaborators demonstrating the effects of the company's small molecule isocitrate dehydrogenase 1 and ...
Cancer
Apr 04, 2013 |
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Loss of tumor suppressor SPOP releases cancer potential of SRC-3
Mutations in a protein called SPOP (speckle-type POZ protein) disarm it, allowing another protein called steroid receptor coactivator-3 (SRC-3) to encourage the proliferation and spread of prostate cancer cells, said researchers ...
Cancer
Apr 01, 2013 |
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Promoting muscle regeneration in a mouse model of muscular dystrophy
Duchenne muscular dystrophy (DMD) is a degenerative skeletal muscle disease caused by mutations in the protein dystrophin. Dystrophin functions to protect muscle cells from injury and loss of functional dystrophin results ...
Medical research
Apr 01, 2013 |
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Learning from Lassa virus: Researchers discover gene mutations that can result in a congenital disorder
(Medical Xpress)—Researchers have known that two seemingly distant human maladies—a devastating set of hereditary disorders called Walker-Warburg syndrome and infection with the virus that causes hemorrhagic ...
Medical research
Mar 22, 2013 |
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BRAF inhibitor treatment causes melanoma cells to shift how they produce energy
A multi-institutional study has revealed that BRAF-positive metastatic malignant melanomas develop resistance to treatment with drugs targeting the BRAF/MEK growth pathway through a major change in metabolism. The findings, ...
Cancer
Mar 08, 2013 |
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New insight into RASopathy-associated lymphatic defects
The RAS pathway is a cellular signaling pathway that regulates growth and development in humans. RASopathies are a group of diseases characterized by defects in RAS signaling.
Diseases, Conditions, Syndromes
Feb 08, 2013 |
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How can evolutionary biology explain why we get cancer?
Over 500 billion cells in our bodies will be replaced daily, yet natural selection has enabled us to develop defenses against the cellular mutations which could cause cancer. It is this relationship between evolution and ...
Cancer
Jan 22, 2013 |
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Cell loss in the brain relates to variations in individual symptoms in Huntington's disease
Scientists have wrestled to understand why Huntington's disease, which is caused by a single gene mutation, can produce such variable symptoms. An authoritative review by a group of leading experts summarizes the progress ...
Neuroscience
Jan 07, 2013 |
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A model-free way to characterize polymodal ion channel gating
Two studies in The Journal of General Physiology (JGP) help pave the way for a "shortcut" model-free approach to studying activation of "polymodal" ion channels—channels that open in response to multip ...
Medical research
Dec 27, 2012 |
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New technique catalogs lymphoma-linked genetic variations
(Medical Xpress)—As anyone familiar with the X-Men knows, mutants can be either very good or very bad—or somewhere in between. The same appears true within cancer cells, which may harbor hundreds of mutations that set ...
Cancer
Dec 27, 2012 |
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Study shows how chronic inflammation can cause cancer
A hormone-like substance produced by the body to promote inflammation can cause an aggressive form of leukemia when present at high levels, according to a new study by researchers at the Ohio State University Comprehensive ...
Cancer
Nov 12, 2012 |
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Cells from skin create model of blinding eye disease
For the first time, Wisconsin researchers have taken skin from patients and, using induced pluripotent stem cell (iPSC) technology, turned them into a laboratory model for an inherited type of macular degeneration.
Genetics
Nov 08, 2012 |
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Link found between Alzheimer's disease and protein regulation in the brain—hope for new treatments
New study from the University of Haifa discovers: Link found between Alzheimer's disease and protein regulation in the brain brings hope for new treatments
Alzheimer's disease & dementia
Oct 22, 2012 |
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