Opitz C syndrome (OCS), an ultra-rare disease that causes serious physical and intellectual disabilities, has an heterogeneous genetic base that makes its medical diagnostic and therapeutic intervention difficult, according ...
Apr 5, 2019
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Vaccination with as few as four tumor antigens generated antigen-specific responses, reduced intestinal tumors, and improved survival in a mouse model of Lynch syndrome, suggesting that it may be possible to develop a cancer ...
Apr 1, 2019
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(HealthDay)—Jatenzo (testosterone undecanoate) has been approved by the U.S. Food and Drug Administration to treat men with low testosterone, medically called hypogonadism.
Mar 28, 2019
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Mutations in the NUP160 gene, which encodes one protein component of the nuclear pore complex nucleoporin 160 kD, are implicated in steroid-resistant nephrotic syndrome, an international team reports March 25, 2019, in JASN. ...
Mar 26, 2019
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Using X-ray fluorescence at synchrotrons DESY and ESRF, researchers in the Centre d'Etudes Nucléaires de Bordeaux Gradignan (CNRS/Université de Bordeaux) have demonstrated the consequences of a mutation responsible for ...
Jan 16, 2019
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Fresh discoveries about a rare genetic disorder that affects mainly boys may inform the development of therapies to treat the condition.
Dec 12, 2018
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An international team of researchers led by Huntsman Cancer Institute (HCI) at the University of Utah (U of U) has developed, calibrated, and validated a novel tool for identifying the genetic changes in Lynch syndrome genes ...
Dec 10, 2018
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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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For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalised treatment in the future.
Nov 16, 2018
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More than 100 German lawmakers voiced concern on Friday about prenatal tests for genetic disorders such as Down Syndrome that they say lead to more abortions.
Oct 12, 2018
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