Tandem duplication q14 and dicentric formation by end-to-end chromosome fusions in ataxia telangiectasia (AT)

1975 ◽  
Vol 30 (2) ◽  
pp. 135-141 ◽  
Author(s):  
K. Hayashi ◽  
W. Schmid
Keyword(s):  
Ataxia Telangiectasia ◽  
Tandem Duplication ◽  
Chromosome Fusions ◽  
End To End

scholarly journals DNA Synthesis Generates Terminal Duplications That Seal End-to-End Chromosome Fusions

Science ◽  
2011 ◽  
Vol 332 (6028) ◽  
pp. 468-471 ◽  
Author(s):  
M. R. Lowden ◽  
S. Flibotte ◽  
D. G. Moerman ◽  
S. Ahmed
Keyword(s):  
Dna Synthesis ◽  
Chromosome Fusions ◽  
End To End

scholarly journals H2AX regulates meiotic telomere clustering

2003 ◽  
Vol 163 (1) ◽  
pp. 15-20 ◽  
Author(s):  
Oscar Fernandez-Capetillo ◽  
Bodo Liebe ◽  
Harry Scherthan ◽  
André Nussenzweig
Keyword(s):  
Ataxia Telangiectasia ◽  
Essential Role ◽  
Double Strand Breaks ◽  
Telomere Maintenance ◽  
Histone H2a ◽  
Dna Double Strand Breaks ◽  
Ataxia Telangiectasia Mutated ◽  
Strand Breaks ◽  
Downstream Effector ◽  
Chromosome Fusions

The histone H2A variant H2AX is phosphorylated in response to DNA double-strand breaks originating from diverse origins, including dysfunctional telomeres. Here, we show that normal mitotic telomere maintenance does not require H2AX. Moreover, H2AX is dispensable for the chromosome fusions arising from either critically shortened or deprotected telomeres. However, H2AX has an essential role in controlling the proper topological distribution of telomeres during meiotic prophase I. Our results suggest that H2AX is a downstream effector of the ataxia telangiectasia–mutated kinase in controlling telomere movement during meiosis.

Ataxia-telangiectasia

1966 ◽  
Vol 94 (2) ◽  
pp. 226a-227
Author(s):  
W. G. Larsen
Keyword(s):  
Ataxia Telangiectasia

Surgical management of extracranial carotid artery aneurysms

VASA ◽  
2016 ◽  
Vol 45 (3) ◽  
pp. 223-228 ◽  
Author(s):  
Jan Paweł Skóra ◽  
Jacek Kurcz ◽  
Krzysztof Korta ◽  
Przemysław Szyber ◽  
Tadeusz Andrzej Dorobisz ◽  
...  
Keyword(s):  
Carotid Artery ◽  
Surgical Management ◽  
Minor Stroke ◽  
Stroke Rate ◽  
Extracranial Carotid Artery ◽  
Long Term Follow Up ◽  
End To End ◽  
Dacron Patch ◽  
Major Stroke

Abstract. Background: We present the methods and results of the surgical management of extracranial carotid artery aneurysms (ECCA). Postoperative complications including early and late neurological events were analysed. Correlation between reconstruction techniques and morphology of ECCA was assessed in this retrospective study. Patients and methods: In total, 32 reconstructions of ECCA were performed in 31 symptomatic patients with a mean age of 59.2 (range 33 - 84) years. The causes of ECCA were divided among atherosclerosis (n = 25; 78.1 %), previous carotid endarterectomy with Dacron patch (n = 4; 12.5 %), iatrogenic injury (n = 2; 6.3 %) and infection (n = 1; 3.1 %). In 23 cases, intervention consisted of carotid bypass. Aneurysmectomy with end-to-end suture was performed in 4 cases. Aneurysmal resection with patching was done in 2 cases and aneurysmorrhaphy without patching in another 2 cases. In 1 case, ligature of the internal carotid artery (ICA) was required. Results: Technical success defined as the preservation of ICA patency was achieved in 31 cases (96.9 %). There was one perioperative death due to major stroke (3.1 %). Two cases of minor stroke occurred in the 30-day observation period (6.3 %). Three patients had a transient hypoglossal nerve palsy that subsided spontaneously (9.4 %). At a mean long-term follow-up of 68 months, there were no major or minor ipsilateral strokes or surgery-related deaths reported. In all 30 surviving patients (96.9 %), long-term clinical outcomes were free from ipsilateral neurological symptoms. Conclusions: Open surgery is a relatively safe method in the therapy of ECCA. Surgical repair of ECCAs can be associated with an acceptable major stroke rate and moderate minor stroke rate. Complication-free long-term outcomes can be achieved in as many as 96.9 % of patients. Aneurysmectomy with end-to-end anastomosis or bypass surgery can be implemented during open repair of ECCA.

Ataxia telangiectasia in dizygotic two year old twins

2011 ◽  
Vol 42 (S 01) ◽  
Author(s):  
M Henrich ◽  
S Lutz ◽  
M Busse ◽  
U Schara
Keyword(s):  
Ataxia Telangiectasia
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