Life can change dramatically when someone learns they are genetically predisposed to a disease, such as a condition called familial hypercholesterolemia, where a mutated gene can lead to elevated cholesterol and increased ...
Aug 20, 2020
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Disorders of the autistic spectrum have been associated with hundreds of genetic variations, which have helped in identifying disturbed intracellular signalling pathways and molecular mechanisms typical to autism.
Dec 4, 2018
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Researchers at the Johns Hopkins Kimmel Cancer Center and the Bloomberg~Kimmel Institute for Cancer Immunotherapy (BKI) released a study investigating the use of combination checkpoint immunotherapy in the treatment of a ...
Jun 25, 2018
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Autism spectrum disorder (ASD) is a heterogeneous disorder initiated early in development and characterized by abnormal social communication. Accumulating evidence supports the idea that specific mutations affect regulatory ...
Aug 3, 2020
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36
With its elegant double helix and voluminous genetic script, DNA has become the of darling of nucleic acids. Yet, it is not all powerful. In order for DNA to realize its potential—for genes to become proteins—it must ...
Jul 24, 2019
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Although traditionally understood to induce death in cancer cells, researchers at The University of Texas MD Anderson Cancer Center have discovered that the DAPK1 protein is actually essential for growth in breast and other ...
Jun 15, 2015
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165
Scientists have gained new insight into fragile X syndrome—the most common cause of inherited intellectual disability—by studying the case of a person without the disorder, but with two of its classic symptoms.
Jan 16, 2015
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An international team of doctors and medical scientists has found two rare leptin variants in two children. Both variants led to hyperphagia and obesity. In their study, reported in The New England Journal of Medicine, the ...
Inherited mutations in genes that function to repair DNA may contribute to metastatic prostate cancer more than previously recognized, according to a study out today in the New England Journal of Medicine. Though infrequent ...
Jul 6, 2016
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3
High-grade serious ovarian carcinoma (HGSOC) is the fifth-leading cause of cancer-related deaths in women in the United States, yet little is known about the origins of this disease.
Sep 11, 2020
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