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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes 总被引:25,自引:0,他引:25
Kondo S Schutte BC Richardson RJ Bjork BC Knight AS Watanabe Y Howard E de Lima RL Daack-Hirsch S Sander A McDonald-McGinn DM Zackai EH Lammer EJ Aylsworth AS Ardinger HH Lidral AC Pober BR Moreno L Arcos-Burgos M Valencia C Houdayer C Bahuau M Moretti-Ferreira D Richieri-Costa A Dixon MJ Murray JC 《Nature genetics》2002,32(2):285-289
105.
The emerging conceptual framework of evolutionary developmental biology 总被引:22,自引:0,他引:22
Over the last twenty years, there has been rapid growth of a new approach to understanding the evolution of organismic form. This evolutionary developmental biology, or 'evo-devo', is focused on the developmental genetic machinery that lies behind embryological phenotypes, which were all that could be studied in the past. Are there any general concepts emerging from this new approach, and if so, how do they impact on the conceptual structure of traditional evolutionary biology? In providing answers to these questions, this review assesses whether evo-devo is merely filling in some missing details, or whether it will cause a large-scale change in our thinking about the evolutionary process. 相似文献
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Wiesner T Obenauf AC Murali R Fried I Griewank KG Ulz P Windpassinger C Wackernagel W Loy S Wolf I Viale A Lash AE Pirun M Socci ND Rütten A Palmedo G Abramson D Offit K Ott A Becker JC Cerroni L Kutzner H Bastian BC Speicher MR 《Nature genetics》2011,43(10):1018-1021
Common acquired melanocytic nevi are benign neoplasms that are composed of small, uniform melanocytes and are typically present as flat or slightly elevated pigmented lesions on the skin. We describe two families with a new autosomal dominant syndrome characterized by multiple, skin-colored, elevated melanocytic tumors. In contrast to common acquired nevi, the melanocytic neoplasms in affected family members ranged histopathologically from epithelioid nevi to atypical melanocytic proliferations that showed overlapping features with melanoma. Some affected individuals developed uveal or cutaneous melanomas. Segregating with this phenotype, we found inactivating germline mutations of BAP1, which encodes a ubiquitin carboxy-terminal hydrolase. The majority of melanocytic neoplasms lost the remaining wild-type allele of BAP1 by various somatic alterations. In addition, we found BAP1 mutations in a subset of sporadic melanocytic neoplasms showing histological similarities to the familial tumors. These findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm. 相似文献
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酒石酸卡巴拉汀的合成研究 总被引:4,自引:0,他引:4
酒石酸卡巴拉汀是一种乙酰胆碱酯酶抑制剂,用于治疗中、轻度老年痴呆症(即阿尔茨海默氏症:AD),目前已在瑞士上市,市场前景看好。该文研究了一条适合国内生产的合成路线,先合成外消旋体,再和D-酒石酸衍生物形成非结映体盐,通过分级结晶进行分离,获得S-异构体。 相似文献
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Vegetation and soils inside and outside an abandoned sheep corral on degraded subalpine range of the Wasatch Plateau were studied to determine the influence of approximately 37 years' use of the corral on soil and plant development. Vegetal and surface cover were estimated. Herbage, litter, and soils were sampled inside and outside the corral and analyzed for C org , N, P, and S. Soil pH, bulk density, and C0 3 -C also were measured. Storage (mass/unit area) of C org , N, P, and S was determined for each component. Yield and vegetal composition were significantly affected inside the corral boundary. Herbage yield was 2.2 times greater, litter mass 16 times greater, foliar cover of grasses 2 times greater, and forb cover 70% lower inside than outside the corral. Cover of meadow barley ( Hordeum brachyantherum ), a component of the predisturbance vegetation of the Wasatch Plateau, was nearly 12 times greater inside than outside the corral. These and other vegetal and cover differences reflect inside-outside differences in concentration, storage, and availability of soil C org , N, P, and S. Concentrations of C org and total and available N, P, and S were greater in the surface 5 cm of soil inside the corral. Available P inside the corral was much higher in all soil layers. Because of bulk density differences, storage was greater inside the corral only for C org and N at 0-5 cm and for P at 5-15 cm. Lower soil pH inside the corral appears related to soil P distribution and C0 3 -C storage. Results suggest a need to reexamine earlier conclusions that tall forbs are the climax dominants of the Wasatch summer range. 相似文献
110.
Vegetation and soils inside and outside an abandoned sheep corral on degraded subalpine range of the Wasatch Plateau were studied to determine the influence of approximately 37 years' use of the corral on soil and plant development. Vegetal and surface cover were estimated. Herbage, litter, and soils were sampled inside and outside the corral and analyzed for C org , N, P, and S. Soil pH, bulk density, and C0 3 -C also were measured. Storage (mass/unit area) of C org , N, P, and S was determined for each component. Yield and vegetal composition were significantly affected inside the corral boundary. Herbage yield was 2.2 times greater, litter mass 16 times greater, foliar cover of grasses 2 times greater, and forb cover 70% lower inside than outside the corral. Cover of meadow barley ( Hordeum brachyantherum ), a component of the predisturbance vegetation of the Wasatch Plateau, was nearly 12 times greater inside than outside the corral. These and other vegetal and cover differences reflect inside-outside differences in concentration, storage, and availability of soil C org , N, P, and S. Concentrations of C org and total and available N, P, and S were greater in the surface 5 cm of soil inside the corral. Available P inside the corral was much higher in all soil layers. Because of bulk density differences, storage was greater inside the corral only for C org and N at 0-5 cm and for P at 5-15 cm. Lower soil pH inside the corral appears related to soil P distribution and C0 3 -C storage. Results suggest a need to reexamine earlier conclusions that tall forbs are the climax dominants of the Wasatch summer range. 相似文献