3 research outputs found

    Dental Involvement in a Child with Triple A Syndrome

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    Background: Allgrove (or triple A) syndrome is a rare autosomal recessive disorder. The triad consists of three most prominent features of the syndrome. First, Alacrimia (absence of tears). Second, achalasia (oesophageal motility disorder). Finally, adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency (Addison’s disease). The syndrome is caused by mutations in the AAAS gene on chromosome 12q13. Besides, Consistent oral findings could be noticed such as high arched palate, oral pigmentation, fissured or atrophic tongue and xerostomia. Case Report: We report the case of a 12-year-old girl who presented at the oral department of hospital La Rabta (Tunisia) with specific dental abnormalities. Conclusion: The aim of this report is to highlight dental involvement in Allgrove syndrome that could be of great clinical importance in both diagnosis and dental management

    Telomere maintenance and length regulation in Trypanosoma brucei

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    Transcription of telomere proximal variant surface glycoprotein genes is mono-allelic in bloodstream-form Trypanosoma brucei. The terminal DNA sequence at these telomeres consists of tandem T(2)AG(3) repeats, which increase in length by ∼8 bp per cell division balanced by occasional loss of large numbers of repeats. Here we have used targeted chromosome fragmentation to investigate the sequence requirements for telomere formation in T.brucei. Telomere formation is most efficient on tandem T(2)AG(3) repeats, but can also occur on specific templates found within ‘random’ sequence substrates and on G-rich motifs proximal to a double-strand break. Newly formed telomeres are extended faster than other native telomeres, but as the telomere becomes longer the rate of extension declines. Telomere length regulation in T.brucei is discussed in the context of recent results from other cell types
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