329 research outputs found

    Alchemilla vulgaris effects on egg production and quality expressed by heatstressed quail during the late laying period

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    Potential for mitigating effects of heat stress through dietary Alchemilla vulgaris (AV) supplementation during the late laying period of Japanese quail (Coturnix coturnix japonica) were investigated. A 2 x 3 factorial arrangement of environmental temperature (ET) regimes and levels of dietary supplementation with AV (0%, 1%, and 3%) was used in a 75-day experiment. Twenty-five quail were randomly assigned to each treatment with five replicate cages of five birds. The birds were housed in temperature-controlled rooms at 22 ± 2 °C for 24 h/day (TN) or 34 ± 2 °C between 09h00 and 17h00 followed by 22 ± 2 °C for 16 h/day (HS). The interaction of ET and supplement regimes was rarely significant. In HS quail supplemented with 1% AV, egg production was reduced and FCR was increased compared with the other treatments. Dietary AV was found to reduce egg production in TN conditions, but 3% AV supplementation in the HS group prevented decreased egg production and improved FCR. Various indicators of egg quality were significantly affected by supplementation with AV at certain times during the experiment. Most effects of HS on egg quality were manifest in the first 15 days of ET regimes. Although HS significantly decreased eggshell weight until 31–45 days, AV supplementation improved it on the 45th day and then maintained it through the end of the experiment. Thus, AV may mitigate some effects of HS by partially preventing decreased egg production and increased FCR during the late laying period of Japanese quail.Keywords: Coturnix coturnix japonica, flavonoids, supplemen

    Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

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    Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances, and stereotypic behaviors. We investigated a cohort of 15 individuals with a clinical suspicion of SMS who showed neither deletion in the SMS critical region nor damaging variants in RAI1 using whole exome sequencing. A combination of network analysis (co-expression and biomedical text mining), transcriptomics, and circularized chromatin conformation capture (4C-seq) was applied to verify whether modified genes are part of the same disease network as known SMS-causing genes. Potentially deleterious variants were identified in nine of these individuals using whole-exome sequencing. Eight of these changes affect KMT2D, ZEB2, MAP2K2, GLDC, CASK, MECP2, KDM5C, and POGZ, known to be associated with Kabuki syndrome 1, Mowat-Wilson syndrome, cardiofaciocutaneous syndrome, glycine encephalopathy, mental retardation and microcephaly with pontine and cerebellar hypoplasia, X-linked mental retardation 13, X-linked mental retardation Claes-Jensen type, and White-Sutton syndrome, respectively. The ninth individual carries a de novo variant in JAKMIP1, a regulator of neuronal translation that was recently found deleted in a patient with autism spectrum disorder. Analyses of co-expression and biomedical text mining suggest that these pathologies and SMS are part of the same disease network. Further support for this hypothesis was obtained from transcriptome profiling that showed that the expression levels of both Zeb2 and Map2k2 are perturbed in Rai1 (-/-) mice. As an orthogonal approach to potentially contributory disease gene variants, we used chromatin conformation capture to reveal chromatin contacts between RAI1 and the loci flanking ZEB2 and GLDC, as well as between RAI1 and human orthologs of the genes that show perturbed expression in our Rai1 (-/-) mouse model. These holistic studies of RAI1 and its interactions allow insights into SMS and other disorders associated with intellectual disability and behavioral abnormalities. Our findings support a pan-genomic approach to the molecular diagnosis of a distinctive disorder

    Extraforaminal ligament attachments of the thoracic spinal nerves in humans

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    An anatomical study of the extraforaminal attachments of the thoracic spinal nerves was performed using human spinal columns. The objectives of the study are to identify and describe the existence of ligamentous structures at each thoracic level that attach spinal nerves to structures at the extraforaminal region. During the last 120 years, several mechanisms have been described to protect the spinal nerve against traction. All the described structures were located inside the spinal canal proximal to the intervertebral foramen. Ligaments with a comparable function just outside the intervertebral foramen are mentioned ephemerally. No studies are available about ligamentous attachments of thoracic spinal nerves to the spine. Five embalmed human thoracic spines (Th2–Th11) were dissected. Bilaterally, the extraforaminal region was dissected to describe and measure anatomical structures and their relationships with the thoracic spinal nerves. Histology was done at the sites of attachment of the ligaments to the nerves and along the ligaments. The thoracic spinal nerves are attached to the transverse process of the vertebrae cranial and caudal to the intervertebral foramen. The ligaments consist mainly of collagenous fibers. In conclusion, at the thoracic level, direct ligamentous connections exist between extraforaminal thoracic spinal nerves and nearby structures. They may serve as a protective mechanism against traction and compression of the nerves by positioning the nerve in the intervertebral foramen

    Editorial of Special Issue of National Identities: Alevism as an ethno-religious identity: Contested boundaries

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    No abstract for editorial but this is the opening paragraph: This special issue on Alevism and trans/national Alevi identity critically engages with the relationship between religion, ethnicity and national identity. The core issues are as follows: • how ethnicity and religion are conceptualised for a relatively invisible ethnic group in different national contexts; • how religion and ethnicity intersect when Alevism is both a faith and an ethnic identity, especially when conceptions of that identity are contested; • how identity is shaped through state policies within different national policy contexts and how etic definitions of minority communities are constructed by the state or other agencies with the power to impose them on the community in contrast to the emic or self-definitions of Aleviness from within the Alevi community; • how despite the fragmented, heterogeneous nature of Alevi communities, there is also a sense of a single, transnational imaginary community, at least for the purposes of political assimilation/integration and activism; • how education and other arenas of political, religious and cultural engagement at local, national and transnational levels create the possibilities, both positively and negatively, for future action/policy to situate minority ethnic communities

    Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing (Nature Genetics, (2020), 52, 3, (331-341), 10.1038/s41588-019-0576-7)

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    Correction to: Nature Genetics, published online 05 February 2020. In the published version of this paper, the members of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium were listed in the Supplementary Information; however, these members should have been included in the main paper. The original Article has been corrected to include the members and affiliations of the PCAWG Consortium in the main paper; the corrections have been made to the HTML version of the Article but not the PDF version. Additional corrections to affiliations have been made to the PDF and HTML versions of the original Article for consistency of information between the PCAWG list and the main paper
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