| 1. |
- Smol, T., et al.
(author)
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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
- 2018
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In: Neurogenetics. - : SPRINGER. - 1364-6745 .- 1364-6753. ; 19:2, s. 93-103
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Journal article (peer-reviewed)abstract
- Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies. All patients presented with intellectual disability and severe language impairment. Hypotonia, ataxia, and recognizable facial gestalt were frequent findings, but not congenital heart defects. We identified seven de novo missense variations, in addition to protein-truncating variants and intragenic deletions. Missense variants clustered in two mutation hot-spots, i.e., exons 15-17 and 25-31. We found that patients carrying missense mutations had more frequently epilepsy and showed a more severe phenotype. This study ascertains missense variations in MED13L as a cause for MED13L-related intellectual disability and improves the clinical delineation of the condition.
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| 3. |
- Muelbert, Jose H., et al.
(author)
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ILTER : The International Long-Term Ecological Research Network as a Platform for Global Coastal and Ocean Observation
- 2019
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In: Frontiers in Marine Science. - : Frontiers Media S.A.. - 2296-7745. ; 6
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Research review (peer-reviewed)abstract
- Understanding the threats to global biodiversity and ecosystem services posed by human impacts on coastal and marine environments requires the establishment and maintenance of ecological observatories that integrate the biological, physical, geological, and biogeochemical aspects of ecosystems. This is crucial to provide scientists and stakeholders with the support and knowledge necessary to quantify environmental change and its impact on the sustainable use of the seas and coasts. In this paper, we explore the potential for the coastal and marine components of the International Long-Term Ecological Research Network (ILTER) to fill this need for integrated global observation, and highlight how ecological observations are necessary to address the challenges posed by climate change and evolving human needs and stressors within the coastal zone. The ILTER is a global network encompassing 44 countries and 700 research sites in a variety of ecosystems across the planet, more than 100 of which are located in coastal and marine environments (ILTER-CMS). While most of the ILTER-CMS were established after the year 2000, in some cases they date back to the early 1900s. At ILTER sites, a broad variety of abiotic and biotic variables are measured, which may feed into other global initiatives. The ILTER community has produced tools to harmonize and compare measurements and methods, allowing for data integration workflows and analyses between and within individual ILTER sites. After a brief historical overview of ILTER, with emphasis on the marine component, we analyze the potential contribution of the ILTER-CMS to global coastal and ocean observation, adopting the "Strength, Weakness, Opportunity and Threats (SWOT)" approach. We also identify ways in which the in situ parameters collected at ILTER sites currently fit within the Essential Ocean Variables framework (as proposed by the Framework for Ocean Observation recommendations) and provide insights on the use of new technology in long-term studies. Final recommendations point at the need to further develop observational activities at LTER sites and improve coordination among them and with external related initiatives in order to maximize their exploitation and address present and future challenges in ocean observations.
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| 4. |
- Nag, Somnath, et al.
(author)
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Observation of high-spin bands with large moments of inertia in Xe 124
- 2016
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In: Physical Review C - Nuclear Physics. - 0556-2813. ; 94:3
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Journal article (peer-reviewed)abstract
- High-spin states in Xe124 have been populated using the Se80(Ca48,4n) reaction at a beam energy of 207 MeV and high-multiplicity, γ-ray coincidence events were measured using the Gammasphere spectrometer. Six high-spin bands with large moments of inertia, similar to those observed in neighboring nuclei, have been observed. The experimental results are compared with calculations within the framework of the cranked Nilsson-Strutinsky model. It is suggested that the configurations of the bands involve excitations of protons across the Z=50 shell gap coupled to neutrons within the N=50-82 shell or excited across the N=82 shell closure.
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| 5. |
- Parenti, I., et al.
(author)
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Expanding the clinical spectrum of the "HDAC8-phenotype - implications for molecular diagnostics, counseling and risk prediction
- 2016
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In: Clinical Genetics. - : WILEY-BLACKWELL. - 0009-9163 .- 1399-0004. ; 89:5, s. 564-573
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Journal article (peer-reviewed)abstract
- Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. Approximately 75% of patients carry a variant in one of the five cohesin-related genes NIPBL, SMC1A, SMC3, RAD21 and HDAC8. Herein we report on the clinical and molecular characterization of 11 patients carrying 10 distinct variants in HDAC8. Given the high number of variants identified so far, we advise sequencing of HDAC8 as an indispensable part of the routine molecular diagnostic for patients with CdLS or CdLS-overlapping features. The phenotype of our patients is very broad, whereas males tend to be more severely affected than females, who instead often present with less canonical CdLS features. The extensive clinical variability observed in the heterozygous females might be at least partially associated with a completely skewed X-inactivation, observed in seven out of eight female patients. Our cohort also includes two affected siblings whose unaffected mother was found to be mosaic for the causative mutation inherited to both affected children. This further supports the urgent need for an integration of highly sensitive sequencing technology to allow an appropriate molecular diagnostic, genetic counseling and risk prediction.
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