Mesomelic dysplasias are a group of rare genetic conditions characterized by extreme shortening of the long bones in the arms and legs. Despite several decades of research on these conditions, the exact cause of mesomelic ...
Aug 23, 2021
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At least one in five cases of infertility remain unexplained. Male factors contribute to about half of these cases and, much of the time, men lack a specific causal diagnosis for their infertility. Researchers estimate that ...
Dec 19, 2019
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A large-scale study provides new insights into the mechanisms that can lead to cancer. It can happen when genes mutate, but cancer also can occur when the genetic regions involved in regulating gene expression change. In ...
Jul 10, 2018
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A deadly form of T cell lymphoma is caused by an unusually large number gene deletions, making it distinct among cancers, a new Yale School of Medicine study shows.
Jul 21, 2015
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One of the deadliest forms of paediatric brain tumour, Group 3 medulloblastoma, is linked to a variety of large-scale DNA rearrangements which all have the same overall effect on specific genes located on different chromosomes. ...
Jun 23, 2014
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Retinitis pigmentosa (RP) is a genetic disease that causes progressive loss of vision and is caused by mutations in more than 50 genes. Conventional methods for identification of both RP mutations and novel RP genes involve ...
Sep 16, 2013
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Up to half of all prostate cancer cells have a chromosomal rearrangement that results in a new "fusion" gene and formation of its unique protein -- but no one has known how that alteration promotes cancer growth. Now, Weill ...
May 22, 2012
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A study led by D. Ross Camidge, MD, Ph.D., director of thoracic oncology at the University of Colorado School of Medicine and CU Cancer Center member, has helped to define MET amplification as a rare but potentially actionable ...
Jul 20, 2021
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The CRISPR/Cas9 gene-editing tool is one of the most promising approaches to advancing treatments of genetic diseases—including cancer—an area of research where progress is constantly being made. Now, the Molecular Cytogenetics ...
Oct 8, 2020
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Just as Goldilocks sought porridge that was "just right," St. Jude Children's Research Hospital scientists reported that targeting "just right" levels of a mutant protein may offer a novel therapeutic approach to some cases ...
Jun 26, 2019
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