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Study reveals molecular mechanism behind new DOT1L-related disorder

A study from the laboratory of Dr. Hugo J. Bellen, a distinguished service professor at Baylor College of Medicine and a principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, has discovered that gain-of-function variants in the DOT1L gene cause a new disorder. ....

United States , Baylor College Of Medicine , Florence Robin Renaldo , Siddharth Banka , Brian Hayes , Michaelf Wangler , Cheryl Cytrynbaum , Gregory Costain , Kristian Tveten , Kathleen Sisco , Devon Haynes , Lily Ramsey , Marwan Shinawi , Scott Barish , Moira Blyth , Alexandra Afenjar , Carolyn Wilson , Patrick Yap , Xiao Mao , Patriciag Wheeler , Shinya Yamamoto , Boris Keren , Hugoj Bellen , Cyril Mignot , Ashishr Deshwar , Danielj Wegner ,

DOT1L gene variants associated with a new neu

<p>A study from the laboratory of Dr. Hugo J. Bellen, a distinguished service professor at Baylor College of Medicine and a principal investigator at the&nbsp;<a href="file:///C:/Users/rxnatara/AppData/Local/Microsoft/Windows/INetCache/Content.Outlook/DJZEC7Z1/nri.texaschildrens.org">Jan and Dan Duncan Neurological Research Institute</a>&nbsp;(Duncan NRI) at Texas Children&rsquo;s Hospital, has discovered that gain-of-function variants in the&nbsp;<em>DOT1L&nbsp;</em>gene cause a new disorder. Further studies revealed that the majority of the symptoms in the patients were surprisingly due to an increase in the enzymatic activity of a histone methylase encoded by this gene. This study was published in the&nbsp;<em><u><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(23)00322-1">American Journal of Human Genetics</a></u></em>.</p>
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United States , Baylor College Of Medicine , Patrick Yap , Gregory Costain , Kathleen Sisco , Rebekah Jobling , Trine Prescott , Cheryl Cytrynbaum , Alexandra Afenjar , Shinya Yamamoto , Xiao Mao , Ashishr Deshwar , Scott Barish , Hugoj Bellen , Boris Keren , Marwan Shinawi , Patriciag Wheeler , Moira Blyth , Danielj Wegner , Devon Haynes , Kristian Tveten , Bryan Huang , Oguz Kanca , Florence Robin Renaldo , Carolyn Wilson , Siddharth Banka ,