نتایج جستجو برای: familial dysautonomia

تعداد نتایج: 56514  

2018

An increasing body of evidence indicates that transcription and splicing are coupled and it is accepted that chromatin organization and DNA modification regulate transcription. Little is known, however, about the cross-talk between chromatin structure and splicing. We continue to examine how RNA polymerase II and DNA modifications mediate cross-talk between chromatin structure and splicing (see...

2017

An increasing body of evidence indicates that transcription and splicing are coupled and it is accepted that chromatin organization and DNA modification regulate transcription. Little is known, however, about the cross-talk between chromatin structure and splicing. We continue to examine how RNA polymerase II and DNA modifications mediate cross-talk between chromatin structure and splicing (see...

2018

An increasing body of evidence indicates that transcription and splicing are coupled and it is accepted that chromatin organization and DNA modification regulate transcription. Little is known, however, about the cross-talk between chromatin structure and splicing. We continue to examine how RNA polymerase II and DNA modifications mediate cross-talk between chromatin structure and splicing (see...

2017

An increasing body of evidence indicates that transcription and splicing are coupled and it is accepted that chromatin organization and DNA modification regulate transcription. Little is known, however, about the cross-talk between chromatin structure and splicing. We continue to examine how RNA polymerase II and DNA modifications mediate cross-talk between chromatin structure and splicing (see...

2018

An increasing body of evidence indicates that transcription and splicing are coupled and it is accepted that chromatin organization and DNA modification regulate transcription. Little is known, however, about the cross-talk between chromatin structure and splicing. We continue to examine how RNA polymerase II and DNA modifications mediate cross-talk between chromatin structure and splicing (see...

2018

An increasing body of evidence indicates that transcription and splicing are coupled and it is accepted that chromatin organization and DNA modification regulate transcription. Little is known, however, about the cross-talk between chromatin structure and splicing. We continue to examine how RNA polymerase II and DNA modifications mediate cross-talk between chromatin structure and splicing (see...

2017

An increasing body of evidence indicates that transcription and splicing are coupled and it is accepted that chromatin organization and DNA modification regulate transcription. Little is known, however, about the cross-talk between chromatin structure and splicing. We continue to examine how RNA polymerase II and DNA modifications mediate cross-talk between chromatin structure and splicing (see...

Journal: :Journal of medical genetics 1993
A Blumenfeld F B Axelrod J A Trofatter C Maayan D E Lucente S A Slaugenhaupt C B Liebert L J Ozelius J L Haines X O Breakefield

Familial dysautonomia (FD) is a recessive neurological disorder that affects the development of the sensory and autonomic nervous system. The gene defect appears to be limited to the Ashkenazi Jewish population, where the carrier frequency is 1 in 30. One hundred and ninety-one marker loci representing all autosomes were tested for linkage with the FD genetic defect in 23 families. A combinatio...

2018

An increasing body of evidence indicates that transcription and splicing are coupled and it is accepted that chromatin organization and DNA modification regulate transcription. Little is known, however, about the cross-talk between chromatin structure and splicing. We continue to examine how RNA polymerase II and DNA modifications mediate cross-talk between chromatin structure and splicing (see...

2009
Changchun Chen Simon Tuck Anders S. Byström

Elongator is a six subunit protein complex, conserved from yeast to humans. Mutations in the human Elongator homologue, hELP1, are associated with the neurological disease familial dysautonomia. However, how Elongator functions in metazoans, and how the human mutations affect neural functions is incompletely understood. Here we show that in Caenorhabditis elegans, ELPC-1 and ELPC-3, components ...

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