A recurrent de novo missense mutation in UBTF causes developmental neuroregression
Sign Up to like & getrecommendations! Published in 2018 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy049
Abstract: UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates mRNA transcription by RNA polymerase 2. Herein, we describe 4 patients with very similar patterns… read more here.
Keywords: recurrent novo; genetics; novo missense; mutation ubtf ... See more keywords
Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
Sign Up to like & getrecommendations! Published in 2017 at "Genome Medicine"
DOI: 10.1186/s13073-017-0498-x
Abstract: Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past few years. NGS has led to… read more here.
Keywords: recurrent novo; properties clinical; mutations neurodevelopmental; disorders properties ... See more keywords
Recurrent and de novo Glomerulonephritis After Kidney Transplantation
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2019.01944
Abstract: The prevalence, pathogenesis, predictors, and natural course of patients with recurrent glomerulonephritis (GN) occurring after kidney transplantation remains incompletely understood, including whether there are differences in the outcomes and advances in the treatment options of… read more here.
Keywords: recurrent novo; kidney transplantation; transplantation; glomerulonephritis ... See more keywords