Spontaneous mutations of a single gene are likely to cause serious developmental disorders of the excretory organs and genitalia. This is shown in an international study led by the University of Bonn and published in the ...
Aug 07, 2020
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Before the first oncogene mutations were discovered in human cancer in the early 1980s, the 1970s provided the first data suggesting alterations in the genetic material of tumors. In this context, the prestigious journal ...
15 hours ago
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New work led by Carnegie's Meredith Wilson and Steve Farber identifies a potential therapeutic target for clogged arteries and other health risks that stem from an excess of harmful fats in the bloodstream. Their findings ...
Aug 07, 2020
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Research has shown that a mutation in the ATAXIN-1 gene leads to accumulation of Ataxin-1 (ATXN1) protein in brain cells and is the root cause of a rare genetic neurodegenerative disease known as spinocerebellar ataxia type ...
Aug 07, 2020
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A rare, transmissible tumor has brought the iconic Tasmanian devil to the brink of extinction, but new research by scientists at Washington State University and the Fred Hutchinson Cancer Research Center in Seattle indicates ...
Aug 06, 2020
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Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago discovered that a set of genes with decreased expression in individuals with Down syndrome may lead to clinical ...
Aug 06, 2020
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An analysis of cervical cancers in Ugandan women has uncovered significant genomic differences between tumors caused by different strains of human papillomavirus (HPV), signifying HPV type may impact cervical cancer characteristics ...
Aug 10, 2020
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With the rise of genomic sequencing, health technology companies are promising parents they can detect rare metabolic disorders in newborns who, despite a healthy appearance, may need immediate treatment.
Aug 10, 2020
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A large-scale analysis of the clinical characteristics of Alport syndrome in Japanese patients has revealed that the effectiveness of existing treatment with ACE inhibitors and/or angiotensin receptor blockers (RAS inhibitors) ...
Aug 07, 2020
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Gene therapy to the inner retina prevented blindness in a mouse model of the neuro-degenerative disorder CLN3 Batten disease. Adeno-associated viral (AAV)-mediated expression of the human CLN3 gene led to significant survival ...
Aug 11, 2020
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