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...

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...

Journal: :Sleep 1981
C Guilleminault J G Briskin M S Greenfield R Silvestri

Ten patients with autonomic nervous system dysfunction (familial dysautonomia, juvenile diabetes, or Shy-Drager syndrome) were studied to assess the impact of their impairment on breathing during sleep. Several types of breathing dysfunction during sleep were identified independent of the patients' primary complaints. Obstructive sleep apnea syndrome was the most common; central sleep apnea and...

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...

Journal: :Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2013
Miguel Oliveira Santos Dulce Brito

Familial amyloid polyneuropathy type I (FAP type I) is a rare hereditary systemic amyloidosis caused by the Val30Met mutation in the transthyretin (TTR) gene. The clinical onset and spectrum are variable and depend on phenotypic heterogeneity. Cardiac complications (dysrhythmias and conduction disturbances, cardiomyopathy and dysautonomia) indicate a poor prognosis, even after liver transplanta...

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...

2016
IONUŢ ISAIA JEICAN GABRIELA ICHIM DAN GHEBAN

The article reviews the intestinal ischemia theme on newborn and children. The intestinal ischemia may be either acute - intestinal infarction (by vascular obstruction or by reduced mesenteric blood flow besides the occlusive mechanism), either chronic. In neonates, acute intestinal ischemia may be caused by aortic thrombosis, volvulus or hypoplastic left heart syndrome. In children, acute inte...

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