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排序方式: 共有10000条查询结果,搜索用时 31 毫秒
991.
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Markus G. Seidel Katrin Böhm Figen Dogu Austen Worth Adrian Thrasher Benoit Florkin Aydan İkincioğulları Anke Peters Shahrzad Bakhtiar Marie Meeths Polina Stepensky Isabelle Meyts Svetlana O. Sharapova Laura Gámez-Díaz Lennart Hammarström Stephan Ehl Bodo Grimbacher Andrew R. Gennery 《The Journal of allergy and clinical immunology》2018,141(2):770-775.e1
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Isabelle Audo Saddek Mohand‐Said Elise Boulanger‐Scemama Xavier Zanlonghi Christel Condroyer Vanessa Démontant Fiona Boyard Aline Antonio Cécile Méjécase Said El Shamieh José‐Alain Sahel Christina Zeitz 《Human mutation》2018,39(7):887-913
MER tyrosine kinase (MERTK) encodes a surface receptor localized at the apical membrane of the retinal pigment epithelium. It plays a critical role in photoreceptor outer segment internalization prior to phagocytosis. Mutations in MERTK have been associated with severe autosomal recessive retinal dystrophies in the RCS rat and in humans. We present here a comprehensive review of all reported MERTK disease causing variants with the associated phenotype. In addition, we provide further data and insights of a large cohort of 1,195 inherited retinal dystrophies (IRD) index cases applying state‐of‐the‐art genotyping techniques and summarize current knowledge. A total of 79 variants have now been identified underlying rod‐cone dystrophy and cone‐rod dystrophy including 11 novel variants reported here. The mutation spectrum in MERTK includes 33 missense, 12 nonsense, 12 splice defects, 12 small deletions, 2 small insertion–deletions, 3 small duplications, and 2 exonic and 3 gross deletions. Altogether, mutations in MERTK account for ~2% of IRD cases with a severe retinal phenotype. These data are important for current and future therapeutic trials including gene replacement therapy or cell‐based therapy. 相似文献
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ABSTRACTIn 46 right-handers and 46 left-handers, we used functional magnetic resonance imaging to record activity in the frontal lobes while they generated words, the temporal lobe while they made synonym judgments, and the parietal lobe while they watched videos of manual actions. In each case we also recorded activity in the cerebellum. Laterality indices showed a significant left-hemispheric bias in each cortical lobe and a right-hemispheric bias in the cerebellum for the 2 language tasks, but not during action observation. Cerebellar asymmetry also correlated negatively with frontal and temporal asymmetry, reflecting contralateral connections, but not with parietal asymmetry. A factor analysis of the inter-correlations among laterality indices revealed 2 factors, implying independent lateralized networks, with cerebellar asymmetry strongly linked to a language network in frontal and temporal cortices, and handedness strongly linked to an action-observation network in the parietal lobe. 相似文献
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Anna‐Isabel Schlagowski PhD Marie‐Eve Isner‐Horobeti MD PhD Stéphane P. Dufour PhD Laurence Rasseneur PhD Irina Enache MD PhD Evelyne Lonsdorfer‐Wolf MD PhD Stéphane Doutreleau MD PhD Anne Charloux MD PhD Fabienne Goupilleau Isabelle Bentz Anne Laure Charles PhD Blah Y. Kouassi PhD Joffrey Zoll PhD Bernard Geny MD PhD Fabrice Favret PhD 《Muscle & nerve》2016,54(5):925-935
Introduction: The goal of this study was to compare the effects of downhill (DH), uphill (UH), and UH‐DH exercise training, at the same metabolic rate, on exercise capacity and skeletal muscle mitochondrial function. Methods: Thirty‐two Wistar rats were separated into a control and 3 trained groups. The trained groups exercised for 4 weeks, 5 times per week at the same metabolic rate, either in UH, DH, or combined UH‐DH. Twenty‐four hours after the last training session, the soleus, gastrocnemius, and vastus intermedius muscles were removed for assessment of mitochondrial respiration. Results: Exercise training, at the same metabolic rate, improved maximal running speed without specificity for exercise modalities. Maximal fiber respiration was enhanced in soleus and vastus intermedius in the UH group only. Conclusions: Exercise training, performed at the same metabolic rate, improved exercise capacity, but only UH‐trained rats enhanced mitochondrial function in both soleus and vastus intermedius skeletal muscle. Muscle Nerve 54 : 925–935, 2016 相似文献