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scholar.valpo.edu | ||
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dc.swosu.edu
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| | | | | Wise speculates on the involvement of J.R.R. Tolkien in the group nomination of E.M Forster for the Nobel Prize in Literature in 1954; he discusses not only the politics behind the nomination but reads Forster's Howards End and A Passage to India in the light of the tension between Tolkien's interests in nationalism and inter-racial cooperation. | |
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crossworks.holycross.edu
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| | | | | An ethnographic consideration of the devotion surrounding Audrey Marie Santo, a stigmatist and victim soul in Worcester, Massachusetts. The article uses the theme of the "silent body" to connect the Audrey Santo phenomenon to contemporary academic understandings of the body and embodiment. | |
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digitalcommons.wustl.edu
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| | | | | BACKGROUNDS: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. METHODS: We recruited 73 CHD probands from consanguineous families in Turkey and used whole-exome sequencing (WES) to identify genetic lesions in these patients. RESULTS: On average, each patient had 6.95 rare damaging homozygous variants, 0.68 of which are loss-of-function (LoF) variants. Seven patients (9.6%) carried damaging homozygous variants in five causal CHD genes. Six of those patients exhibited laterality defects (six HTX and one D-TGA). Three additional patients (4.1%) harbored other types of CHD-associated genomic alterations, which overall explained 13.7% (10/73) of the cohort. The contribution from recessive variants in our cohort is higher than 1.8% reported from a cohort of 2871 CHD subjects where 5.6% of subjects met the criteria for consanguinity. CONCLUSIONS: Our WES screen of a Turkish consanguineous population with structural CHD revealed its unique genetic architecture. Six of seven damaging homozygous variants in CHD causal genes occur in the setting of laterality defects implies a strong contribution from consanguinity to these defects specifically. Our study thus provided valuable information about the genetic landscape of CHD in consanguineous families in Turkey. | |
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www.cambridge.org
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| | | Cambridge Core - the books and journals platform from Cambridge University Press replacing Cambridge Journals Online (CJO) and Cambridge Books online (CBO). | ||
