共查询到20条相似文献,搜索用时 15 毫秒
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Amelia M. Lindgren Tatiana Hoyos Michael E. Talkowski Carrie Hanscom Ian Blumenthal Colby Chiang Carl Ernst Shahrin Pereira Zehra Ordulu Carol Clericuzio Joanne M. Drautz Jill A. Rosenfeld Lisa G. Shaffer Lea Velsher Tania Pynn Joris Vermeesch David J. Harris James F. Gusella Eric C. Liao Cynthia C. Morton 《Human genetics》2013,132(5):537-552
We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures, facial dysmorphia and cleft palate. Fluorescence in situ hybridization and whole-genome sequencing demonstrated that the X chromosome breakpoint disrupts KDM6A in the second intron. No genes were directly disrupted on chromosome 5. KDM6A is a histone 3 lysine 27 demethylase and a histone 3 lysine 4 methyltransferase. Expression of KDM6A is significantly reduced in DGAP100 lymphoblastoid cells compared to control samples. We identified nine additional cases with neurodevelopmental delay and various other features consistent with the DGAP100 phenotype with copy number variation encompassing KDM6A from microarray databases. We evaluated haploinsufficiency of kdm6a in a zebrafish model. kdm6a is expressed in the pharyngeal arches and ethmoid plate of the developing zebrafish, while a kdm6a morpholino knockdown exhibited craniofacial defects. We conclude KDM6A dosage regulation is associated with severe and diverse structural defects and developmental abnormalities. 相似文献
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Katarzyna D. Arczewska Gisele G. Tomazella Jessica M. Lindvall Henok Kassahun Silvia Maglioni Alessandro Torgovnick Johan Henriksson Olli Matilainen Bryce J. Marquis Bryant C. Nelson Pawel Jaruga Eshrat Babaie Carina I. Holmberg Thomas R. Bürglin Natascia Ventura Bernd Thiede Hilde Nilsen 《Nucleic acids research》2013,41(10):5368-5381
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Lamin B1 controls oxidative stress responses via Oct-1 总被引:1,自引:0,他引:1
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Kelsey L. Fletcher Brittany N. Whitley Lisa A. Treidel David Thompson Annie Williams Jose C. Noguera Jennie R. Stevenson Mark F. Haussmann 《Biology letters》2015,11(7)
Organismal performance directly depends on an individual''s ability to cope with a wide array of physiological challenges. For social animals, social isolation is a stressor that has been shown to increase oxidative stress. Another physiological challenge, routine locomotor activity, has been found to decrease oxidative stress levels. Because we currently do not have a good understanding of how diverse physiological systems like stress and locomotion interact to affect oxidative balance, we studied this interaction in the prairie vole (Microtus ochrogaster). Voles were either pair housed or isolated and within the isolation group, voles either had access to a moving wheel or a stationary wheel. We found that chronic periodic isolation caused increased levels of oxidative stress. However, within the vole group that was able to run voluntarily, longer durations of locomotor activity were associated with less oxidative stress. Our work suggests that individuals who demonstrate increased locomotor activity may be better able to cope with the social stressor of isolation. 相似文献