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Harakalova M van Harssel JJ Terhal PA van Lieshout S Duran K Renkens I Amor DJ Wilson LC Kirk EP Turner CL Shears D Garcia-Minaur S Lees MM Ross A Venselaar H Vriend G Takanari H Rook MB van der Heyden MA Asselbergs FW Breur HM Swinkels ME Scurr IJ Smithson SF Knoers NV van der Smagt JJ Nijman IJ Kloosterman WP van Haelst MM van Haaften G Cuppen E 《Nature genetics》2012,44(7):793-796
Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the 16 individuals with Cantú syndrome examined. The ABCC9 protein is part of an ATP-dependent potassium (K(ATP)) channel that couples the metabolic state of a cell with its electrical activity. All mutations altered amino acids in or close to the transmembrane domains of ABCC9. Using electrophysiological measurements, we show that mutations in ABCC9 reduce the ATP-mediated potassium channel inhibition, resulting in channel opening. Moreover, similarities between the phenotype of individuals with Cantú syndrome and side effects from the K(ATP) channel agonist minoxidil indicate that the mutations in ABCC9 result in channel opening. Given the availability of ABCC9 antagonists, our findings may have direct implications for the treatment of individuals with Cantú syndrome. 相似文献
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The Middle East is an important contact zone for a considerable number of bird taxa from the western and eastern Palearctic and from the great Saharo-Sindian desert belt. Using WORLDMAP software, we analyzed the geographical distribution of secondary contact zones for parapatric species pairs of birds in the Middle East. We identified 56 species (29 species pairs) that make contact in the Middle East. The species pairs belong to three orders, i.e. Falconiformes, Piciformes, and Passeriformes. Almost half (46%) of these species pairs hybridize in their contact zones. Although contact zones occur over a large part of northern Middle East, spatially they were not evenly distributed. Contact zone richness was highest in the mountain ranges south of the Caspian Sea and the Caucasus. The hottest hotspots, where up to nine bird species pairs occur sympatrically, are situated in north-eastern Iran and Azerbaijan. We discuss the relevance of these hotspots for improving our understanding of the biogeography and evolution of the avifauna in the Middle East. 相似文献
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Zusammenfassung Raupen vonSmerinthus ocellata L. im dritten bis fünften Larvenstadium zeigen im Phototaxisversuch unregelmäsig periodische Umkehr der Kriechrichtung (Fig. 1). Aus der weiteren Analyse der experimentellen Daten ergibt sich, dass dieser Richtungswechsel in der Mehrzahl der Fälle durch einen tatsächlichen Umschlag des Richtungssinnes der Phototaxis verursacht wird. 相似文献
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The Middle East is an important contact zone for a considerable number of bird taxa from the western and eastern Palearctic and from the great Saharo-Sindian desert belt.Using WORLDMAP software,we analyzed the geographical distribution of secondary contact zones for parapatric species pairs of birds in the Middle East.We identified 56 species(29 species pairs)that make contact in the Middle East.The species pairs belong to three orders,i.e.Falconiformes,Piciformes,and Passeriformes.Almost half(46%)of these species pairs hybridize in their contact zones.Although contact zones occur over a large part of northern Middle East,spatially they were not evenly distributed.Contact zone richness was highest in the mountain ranges south of the Caspian Sea and the Caucasus.The hottest hotspots,where up to nine bird species pairs occur sympatrically,are situated in north-eastern Iran and Azerbaijan.We discuss the relevance of these hotspots for improving our understanding of the biogeography and evolution of the avifauna in the Middle East. 相似文献
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