好歌精选：最好听的港台新歌（粤语） - 歌单 - 网易云音乐
好歌精选：最好听的港台新歌（粤语）
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网易公司版权所有(C)杭州乐读科技有限公司运营：Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly - ScienceDirect
Export JavaScript is disabled on your browser. Please enable JavaScript to use all the features on this page., 7 December 2012, Pages Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone LissencephalyAuthor links open overlay panel…Show moreopen archiveCobblestone lissencephaly is a peculiar brain malformation with characteristic radiological anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into the arachnoid space forms an extracortical layer that produces agyria and/or a “cobblestone” brain surface and ventricular enlargement. Cobblestone lissencephaly is pathognomonic of a continuum of autosomal-recessive diseases characterized by cerebral, ocular, and muscular deficits. These include Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama muscular dystrophy. Mutations in POMT1, POMT2, POMGNT1, LARGE, FKTN, and FKRP identified these diseases as alpha-dystroglycanopathies. Our exhaustive screening of these six genes, in a cohort of 90 fetal cases, led to the identification of a mutation in only 53% of the families, suggesting that other genes might also be involved. We therefore decided to perform a genome-wide study in two multiplex families. This allowed us to identify two additional genes: TMEM5 and ISPD. Because TMEM has a glycosyltransferase domain and ISPD has an isoprenoid synthase domain characteristic of nucleotide diP-sugar transferases, these two proteins are thought to be involved in the glycosylation of dystroglycan. Further screening of 40 families with cobblestone lissencephaly identified nonsense and frameshift mutations in another four unrelated cases for each gene, increasing the mutational rate to 64% in our cohort. All these cases displayed a severe phenotype of cobblestone lissencephaly A. TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies.Recommended articlesCiting articles (0)Common gene pathways and families altered by DNA methylation in breast and prostate cancers. - Abstract - Europe PMC
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Tanya K Day
Tina Bianco-Miotto
University of Adelaide
Dame Roma Mitchell Cancer Research Laboratories, Discipline of Medicine, Hanson Institute, Adelaide Prostate Cancer Research Centre, The University of Adelaide, South Australia, Australia.
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[19 Aug ):R215-32]
Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Review, Journal Article
Epigenetic modifications, such as DNA methylation, are widely studied in cancer as they are stable and easy to measure genome wide. DNA methylation changes have been used to differentiate benign from malignant tissue and to predict tumor recurrence or patient outcome. Multiple genome wide DNA methylation studies in breast and prostate cancers have identified genes that are differentially methylated in malignant tissue compared with non-malignant tissue or in association with hormone receptor status or tumor recurrence. Although this has identified potential biomarkers for diagnosis and prognosis, what is highlighted by reviewing these studies is the similarities between breast and prostate cancers. In particular, the gene families/pathways targeted by DNA methylation in breast and prostate cancers have significant overlap and include homeobox genes, zinc finger transcription factors, S100 calcium binding proteins, and potassium voltage-gated family members. Many of the gene pathways targeted by aberrant methylation in breast and prostate cancers are not targeted in other cancers, suggesting that some of these targets may be specific to hormonal cancers. Genome wide DNA methylation profiles in breast and prostate cancers will not only define more specific and sensitive biomarkers for cancer diagnosis and prognosis but also identify novel therapeutic targets, which may be direct targets of agents that reverse DNA methylation or which may target novel gene families that are themselves DNA methylation targets.
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CitePeer Related Articles海贼王&男人。 - 歌单 - 网易云音乐
海贼王&男人。
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同步歌单，随时畅听320k好音乐
网易公司版权所有(C)杭州乐读科技有限公司运营：Effect of Early Adult Patterns of Physical Activity and Television Viewing on Midlife Cognitive... - Abstract - Europe PMC
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(PMID: PMCID:PMC4755299)
Tina D Hoang
Jared Reis
Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, Bethesda, Maryland.
Division of Epidemiology, School of Public Health, University of Minnesota, Minneapolis.
David R Jacobs
Division of Epidemiology, School of Public Health, University of Minnesota, Minneapolis.
Lenore J Launer
Laboratory of Epidemiology, Demography, and Biometry, National Institute on Aging, Bethesda, Maryland.
Rachel A Whitmer
Stephen Sidney
Kristine Yaffe
Departments of Psychiatry, Neurology, Epidemiology and Biostatistics, University of California, San Francisco7San Francisco Veterans Affairs Medical Center, San Francisco, California.
Northern California Institute for Research and Education, San Francisco.
Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, Bethesda, Maryland.
Division of Epidemiology, School of Public Health, University of Minnesota, Minneapolis.
Laboratory of Epidemiology, Demography, and Biometry, National Institute on Aging, Bethesda, Maryland.
Division of Research, Kaiser Permanente of Northern California, Oakland.
Departments of Psychiatry, Neurology, Epidemiology and Biostatistics, University of California, San Francisco7San Francisco Veterans Affairs Medical Center, San Francisco, California.
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[02 Dec ):73-79]
Research Support, N.I.H., Intramural, research-article, Journal Article, Research Support, N.I.H., Extramural
Sedentary behaviors and physical inactivity are not only increasing worldwide but also are critical risk factors for adverse health outcomes. Yet, few studies have examined the effects of sedentary behavior on cognition or the long-term role of either behavior in early to middle adulthood.To investigate the association between 25-year patterns of television viewing and physical activity and midlife cognition.Prospective study of 3247 adults (b aged 18-30 years) enrolled in the Coronary Artery Risk Development in Young Adults (CARDIA) Study (March 25, 1985, to August 31, 2011). Data analysis was performed June 1, 2014, through April 15, 2015.We assessed television viewing and physical activity at repeated visits (&3 assessments) over 25 years using a validated questionnaire. A 25-year pattern of high television viewing was defined as watching TV above the upper baseline quartile (&3 hours/d) for more than two-thirds of the visits, and a 25-year pattern of low physical activity was defined as activity levels below the lower, sex-specific baseline quartile for more than two-thirds of the of the visits. We evaluated cognitive function at year 25 using the Digit Symbol Substitution Test (DSST), Stroop test, and Rey Auditory Verbal Learning Test.At baseline, the mean (SD) age of the 3247 study participants was 25.1 (3.6) years, %) were female, %) were white, and %) had completed at least high school. Compared with participants with low television viewing, those with high television viewing during 25 years (353 of %]) were more likely to have poor cognitive performance (&1 SD below the race-specific mean) on the DSST and Stroop test, with findings reported as adjusted odds ratio (95% CI): DSST, 1.64 (1.21-2.23) and Stroop test, 1.56 (1.13-2.14), but not the Rey Auditory Verbal Learning Test, adjusted for age, race, sex, educational level, smoking, alcohol use, body mass index, and hypertension. Low physical activity during 25 years in 528 of 3247 participants (16.3%) was significantly associated with poor performance on the DSST, 1.47 (1.14-1.90). Compared with participants with low television viewing and high physical activity, the odds of poor performance were almost 2 times higher for adults with both high television viewing and low physical activity in 107 of %) (DSST, 1.95 [1.19-3.22], and Stroop test, 2.20 [1.36-3.56]).High television viewing and low physical activity in early adulthood were associated with worse midlife executive function and processing speed. This is one of the first studies to demonstrate that these risk behaviors may be critical targets for prevention of cognitive aging even before middle age.
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