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PTPN11 missense mutations cause approximately 50% of Noonan syndrome, an autosomal dominant disorder presenting with various congenital heart defects, most commonly valvar pulmonary stenosis, and hypertrophic cardiomyopathy. Atrioventricular septal defects and coarctation of the aorta occur in 15% and 9%, respectively. The aim of this study was to determine if PTPN11 mutations exist in non-syndrom
To elucidate further the role, in normal development and in disease pathogenesis, of TFAP2B, a transcription factor expressed in neuroectoderm, we studied eight patients with Char syndrome and their families. Four novel mutations were identified, three residing in the basic domain, which is responsible for DNA binding, and a fourth affecting a conserved PY motif in the transactivation domain. Func
Aortic stiffness and diastolic function are abnormal in adults with repaired coarctation of the aorta (CoA). The goal of this study was to determine the relation between aortic stiffness and left ventricular (LV) diastolic impairment in children who had undergone CoA repair very early in life. This is a retrospective review of echocardiograms in children with isolated repaired CoA (group CoA; n =
In the process of compiling a new corpus of contemporary spoken British English, the London-Lund Corpus 2, we hit upon a construction used in the conversations recorded that had not previously been dealt with in the literature, namely the reactive what-x construction. Prompted by this discovery, we carried out a detailed analysis of its properties and constraints within the broad framework of Cogn
The fact that machines play an increasingly more important role in our daily life is hardly new to anyone. Robots help us with a wide range of things in our daily lives, the smartphone perhaps being the best illustration of this state of affairs. The debate among experts in the field of artificial intelligence (AI) is divided: is the rapid development good for humanity, or is it bad (Müller and Bo
Religion is particularly important in times of crises and difficulties. After the 2004 Indian Ocean tsunami Buddhist monks became of great significance for the survivors in Thailand. They performed cremations, helped the survivors to understand and accept what has happened, provided leadership, conducted important rituals and organized aid. The Buddhist temples became the main venues for people se
