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- Smol, T., et al.
(författare)
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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
- 2018
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Ingår i: Neurogenetics. - : SPRINGER. - 1364-6745 .- 1364-6753. ; 19:2, s. 93-103
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Tidskriftsartikel (refereegranskat)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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Brill's Encyclopedia of Sikhism, Volume 1 : History, Literature, Society, Beyond Punjab
- 2017
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Samlingsverk (redaktörskap) (refereegranskat)abstract
- Sikhism is one of the most important religious traditions of South Asian origin.Sikhs are historically connected to the Punjab region in South Asia, but their religious traditions are transnational and have a worldwide presence. The study of their history and traditions has become a significant field of scholarship and research, but no academic, authoritative, and up-to-date reference work exists. Brill’s Encyclopedia of Sikhism aims to make available in-depth critical scholarship on all the main aspects of the Sikh traditions in a number of original essays written by the world's foremost scholars on Sikhs and Sikh traditions.The encyclopedia is thematic and seeks to present a balanced and impartial view of the Sikh traditions in all their multiplicity and as both historical and contemporary institutions. The articles, published in two volumes, focus on history, literature, and the rich social landscape of the Sikh community; their practices, places, arts, and performances; specialists and leadership; migration both within South Asia and beyond; and contemporary issues and relations.
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- Nesbitt, Sterling J., et al.
(författare)
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The earliest bird-line archosaurs and the assembly of the dinosaur body plan
- 2017
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Ingår i: Nature. - : NATURE PUBLISHING GROUP. - 0028-0836 .- 1476-4687. ; 544:7651, s. 484-
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Tidskriftsartikel (refereegranskat)abstract
- The relationship between dinosaurs and other reptiles is well established(1-4), but the sequence of acquisition of dinosaurian features has been obscured by the scarcity of fossils with transitional morphologies. The closest extinct relatives of dinosaurs either have highly derived morphologies(5-7) or are known from poorly preserved(8,9) or incomplete material(10,11). Here we describe one of the stratigraphically lowest and phylogenetically earliest members of the avian stem lineage (Avemetatarsalia), Teleocrater rhadinus gen. et sp. nov., from the Middle Triassic epoch. The anatomy of T. rhadinus provides key information that unites several enigmatic taxa from across Pangaea into a previously unrecognized clade, Aphanosauria. This clade is the sister taxon of Ornithodira (pterosaurs and birds) and shortens the ghost lineage inferred at the base of Avemetatarsalia. We demonstrate that several anatomical features long thought to characterize Dinosauria and dinosauriforms evolved much earlier, soon after the bird-crocodylian split, and that the earliest avemetatarsalians retained the crocodylian-like ankle morphology and hindlimb proportions of stem archosaurs and early pseudosuchians. Early avemetatarsalians were substantially more species-rich, widely geographically distributed and morphologically diverse than previously recognized. Moreover, several early dinosauromorphs that were previously used as models to understand dinosaur origins may represent specialized forms rather than the ancestral avemetatarsalian morphology.
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