News tagged with autosomal dominant disease
Mice regain ability to extend telomeres suggesting potential for dyskeratosis congenita therapy
The human genetic disease dyskeratosis congenita (DKC) is an autosomal dominant disease that leads to abnormalities in tissues with a rapid cell turnover - the skin, nails, bone marrow, lungs and gut. Patients with DKC experience ...
Medicine & Health / Medical research
Oct 19, 2009 |
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Search results for autosomal dominant disease
Cure of ADPKD by selection for spontaneous genetic repair events in Pkd1-mutated iPS cells
A research group including Kyoto University researchers demonstrates that mouse iPS cells, in which genetic correction occurs spontaneously through mitotic recombination, is selectable from the population of genetically mutated ...
Feb 10, 2012 |
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First German genome comprehensively resolved at its molecular level
Max Planck researchers analyze the two chromosome sets in the human genome separately for the first time.
Sep 12, 2011 |
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Aurora A may contribute to kidney disease
The Aurora A kinase may contribute to polycystic kidney disease (PKD) by inactivating a key calcium channel in kidney cells, according to a study in the June 13 issue of The Journal of Cell Biology.
Jun 13, 2011 |
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Vascular disorder in the brain often misdiagnosed as multiple sclerosis
A devastating vascular disorder of the brain called CADASIL, which strikes young adults and leads to early dementia, often is misdiagnosed as multiple sclerosis, Loyola University Health System researchers report.
Medicine & Health / Neuroscience
Mar 08, 2011 |
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Gene mutation play a major role in one cause of kidney disease
Mutations in a gene called INF2 are by far the most common cause of a dominantly inherited condition that leads to kidney failure, according to a study appearing in an upcoming issue of the Journal of the American Society Ne ...
Jan 20, 2011 |
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Embryonic stem cells help deliver 'good genes' in a model of inherited blood disorder
Researchers at Nationwide Children's Hospital report a gene therapy strategy that improves the condition of a mouse model of an inherited blood disorder, Beta Thalassemia. The gene correction involves using unfertilized ...
Medicine & Health / Medical research
Jan 10, 2011 |
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Paper highlight: Signaling hope for polycystic kidney disease
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common genetic disease that results in chronic kidney failure.
Medicine & Health / Diseases, Conditions, Syndromes
Sep 13, 2010 |
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Post-transplant drug may also help patients with common genetic kidney disease
The immunosuppressive drug sirolimus considerably improves the kidney health of patients with autosomal dominant polycystic kidney disease (ADPKD), according to a study appearing in an upcoming issue of the Journal of th ...
Medicine & Health / Diseases, Conditions, Syndromes
May 13, 2010 |
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Gene therapy sets stage for new treatments for inherited blindness, researchers say
Veterinary vision scientists at the University of Pennsylvania have safely and successfully used a viral vector in targeting a class of photoreceptors of the retina called rods, a critical first step in developing ...
Apr 29, 2010 |
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Hormone mimic reduces liver damage caused by common genetic kidney disease
A hormone mimic called Octreotide may be effective for treating polycystic liver disease (PLD) caused by ADPKD, according to a study appearing in an upcoming issue of the Journal of the American Society Nephrology (JASN) ...
Medicine & Health / Diseases, Conditions, Syndromes
Apr 29, 2010 |
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List of search results for autosomal dominant disease
