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  • 1
    Online Resource
    Online Resource
    Germline selection shapes human mitochondrial DNA diversity
    American Association for the Advancement of Science (AAAS) ; 2019
    In:  Science Vol. 364, No. 6442 ( 2019-05-24)
    Details
    In: Science, American Association for the Advancement of Science (AAAS), Vol. 364, No. 6442 ( 2019-05-24)
    Abstract: Approximately 2.4% of the human mitochondrial DNA (mtDNA) genome exhibits common homoplasmic genetic variation. We analyzed 12,975 whole-genome sequences to show that 45.1% of individuals from 1526 mother–offspring pairs harbor a mixed population of mtDNA (heteroplasmy), but the propensity for maternal transmission differs across the mitochondrial genome. Over one generation, we observed selection both for and against variants in specific genomic regions; known variants were more likely to be transmitted than previously unknown variants. However, new heteroplasmies were more likely to match the nuclear genetic ancestry as opposed to the ancestry of the mitochondrial genome on which the mutations occurred, validating our findings in 40,325 individuals. Thus, human mtDNA at the population level is shaped by selective forces within the female germ line under nuclear genetic control, which ensures consistency between the two independent genetic lineages.
    Type of Medium: Online Resource
    ISSN: 0036-8075 , 1095-9203
    URL: Article
    DOI: 10.1126/science.aau6520
    RVK:
    TA 1000
    RVK:
    WA 15000
    Language: English
    Publisher: American Association for the Advancement of Science (AAAS)
    Publication Date: 2019
    detail.hit.zdb_id: 128410-1
    detail.hit.zdb_id: 2066996-3
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  • 2
    Online Resource
    Online Resource
    A Pilot Study on the Encoding of a Perceptual Learning Task following Sleep Deprivation
    SAGE Publications ; 2015
    In:  Perceptual and Motor Skills Vol. 121, No. 1 ( 2015-08), p. 80-93
    Details
    In: Perceptual and Motor Skills, SAGE Publications, Vol. 121, No. 1 ( 2015-08), p. 80-93
    Abstract: Memory encoding sometimes must occur during a period of sleep deprivation. The question was whether one night of sleep deprivation inhibits encoding on a perceptual learning task (the texture discrimination task). The sample was 18 human participants ( M age = 22.1 yr., SEM = 0.5; 8 men). The participants were randomized to a sleep deprivation or sleep control condition and, after the manipulation, were given two administrations of the texture discrimination task. All participants were given an opportunity for a 90 min. nap between the two administrations. Performance was measured by the interpolated stimulus-to-mask-onset asynchrony (i.e., the inter-stimulus interval), at which the percentage of correct responses for the stimuli in the participant's peripheral vision fell below 80%. Offline consolidation was defined as a decrease in this index between the two administrations. Participants who were sleep deprived prior to encoding exhibited similar offline consolidation ( M = −5.3 msec., SEM = 2.3) compared to participants who were not sleep deprived prior to encoding ( M = −6.2 msec., SEM = 3.9); the two-way interaction between time and condition was not significant. In light of reports in the literature, these results indicate encoding following sleep deprivation may be influenced by both the type of task encoded and the brain regions involved in memory processing.
    Type of Medium: Online Resource
    ISSN: 0031-5125 , 1558-688X
    URL: Article
    DOI: 10.2466/23.PMS.121c11x9
    Language: English
    Publisher: SAGE Publications
    Publication Date: 2015
    detail.hit.zdb_id: 2066876-4
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    SSG: 7,11
    SSG: 31
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  • 3
    Online Resource
    Online Resource
    Peripheral Auditory Nerve Impairment in a Mouse Model of Syndromic Autism
    Society for Neuroscience ; 2022
    In:  The Journal of Neuroscience Vol. 42, No. 42 ( 2022-10-19), p. 8002-8018
    Details
    In: The Journal of Neuroscience, Society for Neuroscience, Vol. 42, No. 42 ( 2022-10-19), p. 8002-8018
    Abstract: Dysfunction of the peripheral auditory nerve (AN) contributes to dynamic changes throughout the central auditory system, resulting in abnormal auditory processing, including hypersensitivity. Altered sound sensitivity is frequently observed in autism spectrum disorder (ASD), suggesting that AN deficits and changes in auditory information processing may contribute to ASD-associated symptoms, including social communication deficits and hyperacusis. The MEF2C transcription factor is associated with risk for several neurodevelopmental disorders, and mutations or deletions of MEF2C produce a haploinsufficiency syndrome characterized by ASD, language, and cognitive deficits. A mouse model of this syndromic ASD ( Mef2c -Het) recapitulates many of the MEF2C haploinsufficiency syndrome-linked behaviors, including communication deficits. We show here that Mef2c -Het mice of both sexes exhibit functional impairment of the peripheral AN and a modest reduction in hearing sensitivity. We find that MEF2C is expressed during development in multiple AN and cochlear cell types; and in Mef2c -Het mice, we observe multiple cellular and molecular alterations associated with the AN, including abnormal myelination, neuronal degeneration, neuronal mitochondria dysfunction, and increased macrophage activation and cochlear inflammation. These results reveal the importance of MEF2C function in inner ear development and function and the engagement of immune cells and other non-neuronal cells, which suggests that microglia/macrophages and other non-neuronal cells might contribute, directly or indirectly, to AN dysfunction and ASD-related phenotypes. Finally, our study establishes a comprehensive approach for characterizing AN function at the physiological, cellular, and molecular levels in mice, which can be applied to animal models with a wide range of human auditory processing impairments. SIGNIFICANCE STATEMENT This is the first report of peripheral auditory nerve (AN) impairment in a mouse model of human MEF2C haploinsufficiency syndrome that has well-characterized ASD-related behaviors, including communication deficits, hyperactivity, repetitive behavior, and social deficits. We identify multiple underlying cellular, subcellular, and molecular abnormalities that may contribute to peripheral AN impairment. Our findings also highlight the important roles of immune cells (e.g., cochlear macrophages) and other non-neuronal elements (e.g., glial cells and cells in the stria vascularis) in auditory impairment in ASD. The methodological significance of the study is the establishment of a comprehensive approach for evaluating peripheral AN function and impact of peripheral AN deficits with minimal hearing loss.
    Type of Medium: Online Resource
    ISSN: 0270-6474 , 1529-2401
    URL: Article
    URL: Article
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    DOI: 10.1523/JNEUROSCI.0253-22.2022
    DOI: 10.1523/JNEUROSCI.0253-22.2022.supplement
    DOI: 10.1523/JNEUROSCI.0253-22.2022.supplement
    DOI: 10.1523/JNEUROSCI.0253-22.2022.supplement
    DOI: 10.1523/JNEUROSCI.0253-22.2022.supplement
    DOI: 10.1523/JNEUROSCI.0253-22.2022.supplement
    DOI: 10.1523/JNEUROSCI.0253-22.2022.supplement
    DOI: 10.1523/JNEUROSCI.0253-22.2022.supplement
    DOI: 10.1523/JNEUROSCI.0253-22.2022.supplement
    DOI: 10.1523/JNEUROSCI.0253-22.2022.supplement
    DOI: 10.1523/JNEUROSCI.0253-22.2022.supplement
    Language: English
    Publisher: Society for Neuroscience
    Publication Date: 2022
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    SSG: 12
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  • 4
    Online Resource
    Online Resource
    The Holocene Asian Monsoon: Links to Solar Changes and North Atlantic Climate
    American Association for the Advancement of Science (AAAS) ; 2005
    In:  Science Vol. 308, No. 5723 ( 2005-05-06), p. 854-857
    Details
    In: Science, American Association for the Advancement of Science (AAAS), Vol. 308, No. 5723 ( 2005-05-06), p. 854-857
    Abstract: A 5-year-resolution absolute-dated oxygen isotope record from Dongge Cave, southern China, provides a continuous history of the Asian monsoon over the past 9000 years. Although the record broadly follows summer insolation, it is punctuated by eight weak monsoon events lasting ∼1 to 5 centuries. One correlates with the “8200-year” event, another with the collapse of the Chinese Neolithic culture, and most with North Atlantic ice-rafting events. Cross-correlation of the decadal- to centennial-scale monsoon record with the atmospheric carbon-14 record shows that some, but not all, of the monsoon variability at these frequencies results from changes in solar output.
    Type of Medium: Online Resource
    ISSN: 0036-8075 , 1095-9203
    URL: Article
    DOI: 10.1126/science.1106296
    RVK:
    TA 1000
    RVK:
    WA 15000
    Language: English
    Publisher: American Association for the Advancement of Science (AAAS)
    Publication Date: 2005
    detail.hit.zdb_id: 128410-1
    detail.hit.zdb_id: 2066996-3
    detail.hit.zdb_id: 2060783-0
    SSG: 11
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  • 5
    Online Resource
    Online Resource
    Timing, Duration, and Transitions of the Last Interglacial Asian Monsoon
    American Association for the Advancement of Science (AAAS) ; 2004
    In:  Science Vol. 304, No. 5670 ( 2004-04-23), p. 575-578
    Details
    In: Science, American Association for the Advancement of Science (AAAS), Vol. 304, No. 5670 ( 2004-04-23), p. 575-578
    Abstract: Thorium-230 ages and oxygen isotope ratios of stalagmites from Dongge Cave, China, characterize the Asian Monsoon and low-latitude precipitation over the past 160,000 years. Numerous abrupt changes in 18 O/ 16 O values result from changes in tropical and subtropical precipitation driven by insolation and millennial-scale circulation shifts. The Last Interglacial Monsoon lasted 9.7 ± 1.1 thousand years, beginning with an abrupt (less than 200 years) drop in 18 O/ 16 O values 129.3 ± 0.9 thousand years ago and ending with an abrupt (less than 300 years) rise in 18 O/ 16 O values 119.6 ± 0.6 thousand years ago. The start coincides with insolation rise and measures of full interglacial conditions, indicating that insolation triggered the final rise to full interglacial conditions.
    Type of Medium: Online Resource
    ISSN: 0036-8075 , 1095-9203
    URL: Article
    DOI: 10.1126/science.1091220
    RVK:
    TA 1000
    RVK:
    WA 15000
    Language: English
    Publisher: American Association for the Advancement of Science (AAAS)
    Publication Date: 2004
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    SSG: 11
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  • 6
    Online Resource
    Online Resource
    KMT2B -related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
    Oxford University Press (OUP) ; 2020
    In:  Brain Vol. 143, No. 11 ( 2020-11-01), p. 3242-3261
    Details
    In: Brain, Oxford University Press (OUP), Vol. 143, No. 11 ( 2020-11-01), p. 3242-3261
    Abstract: Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and cervical involvement. Although KMT2B-related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the full spectrum of the disease. We describe a cohort of 53 patients with KMT2B mutations, with detailed delineation of their clinical phenotype and molecular genetic features. We report new disease presentations, including atypical patterns of dystonia evolution and a subgroup of patients with a non-dystonic neurodevelopmental phenotype. In addition to the previously reported systemic features, our study has identified co-morbidities, including the risk of status dystonicus, intrauterine growth retardation, and endocrinopathies. Analysis of this study cohort (n = 53) in tandem with published cases (n = 80) revealed that patients with chromosomal deletions and protein truncating variants had a significantly higher burden of systemic disease (with earlier onset of dystonia) than those with missense variants. Eighteen individuals had detailed longitudinal data available after insertion of deep brain stimulation for medically refractory dystonia. Median age at deep brain stimulation was 11.5 years (range: 4.5–37.0 years). Follow-up after deep brain stimulation ranged from 0.25 to 22 years. Significant improvement of motor function and disability (as assessed by the Burke Fahn Marsden’s Dystonia Rating Scales, BFMDRS-M and BFMDRS-D) was evident at 6 months, 1 year and last follow-up (motor, P = 0.001, P = 0.004, and P = 0.012; disability, P = 0.009, P = 0.002 and P = 0.012). At 1 year post-deep brain stimulation, & gt;50% of subjects showed BFMDRS-M and BFMDRS-D improvements of & gt;30%. In the long-term deep brain stimulation cohort (deep brain stimulation inserted for & gt;5 years, n = 8), improvement of & gt;30% was maintained in 5/8 and 3/8 subjects for the BFMDRS-M and BFMDRS-D, respectively. The greatest BFMDRS-M improvements were observed for trunk (53.2%) and cervical (50.5%) dystonia, with less clinical impact on laryngeal dystonia. Improvements in gait dystonia decreased from 20.9% at 1 year to 16.2% at last assessment; no patient maintained a fully independent gait. Reduction of BFMDRS-D was maintained for swallowing (52.9%). Five patients developed mild parkinsonism following deep brain stimulation. KMT2B-related disease comprises an expanding continuum from infancy to adulthood, with early evidence of genotype-phenotype correlations. Except for laryngeal dysphonia, deep brain stimulation provides a significant improvement in quality of life and function with sustained clinical benefit depending on symptoms distribution.
    Type of Medium: Online Resource
    ISSN: 0006-8950 , 1460-2156
    URL: Article
    DOI: 10.1093/brain/awaa304
    RVK:
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    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2020
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    SSG: 12
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