Results 71 to 80 of about 12,984 (193)

The Big Picture: Religion and Global Comparative History

Journal of Religious History, EarlyView.
This article considers what a ‘big picture’ approach to global religious history might look like, and in particular the implications of deploying the comparative method across much larger stretches of time and space than historians normally attend to. It will begin by reflecting on the epistemological moods that have hindered this project to date, the ...
Alan Strathern
wiley   +1 more source

A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site [PDF]

Human Genome Variation, 2015
The analysis of genes involved in hereditary spherocytosis, by next-generation sequencing in two patients with clinical diagnosis of the disease, showed the presence of the c.1795+1G>A mutation in the SPTB gene. cDNA amplification then revealed the occurrence of a consequent aberrant mRNA isoform produced from the activation of a cryptic 5'-splice site
Salas, Pilar Carrasco, Rosales, José Miguel Lezana, Milla, Carmen Palma, Montiel, Javier López, Siles, Juan López   +4 more
openaire   +2 more sources

Flap Anatomies and Victorian Veils: Penetrating the Female Reproductive Interior

Gender &History, EarlyView.
ABSTRACT This article examines the reappearance in the early nineteenth century of anatomical flapbooks in the context of obstetrical education in Britain, America and France. It asks why liftable paper flaps were reintroduced at this time after their disappearance from medical atlases in the eighteenth century.
Margaret Carlyle, Marcia D. Nichols
wiley   +1 more source

A Splice Site Mutant of Maize Activates Cryptic Splice Sites, Elicits Intron Inclusion and Exon Exclusion, and Permits Branch Point Elucidation [PDF]

Plant Physiology, 1999
Abstract DNA sequence analysis of thebt2-7503 mutant allele of the maizebrittle-2 gene revealed a point mutation in the 5′ terminal sequence of intron 3 changing GT to AT. This lesion completely abolishes use of this splice site, activates two cryptic splice sites, and alters the splicing pattern from extant splice sites.
S, Lal, J H, Choi, J R, Shaw, L C, Hannah   +3 more
openaire   +2 more sources

A novel BRCA2 splice variant identified in a young woman

Molecular Genetics & Genomic Medicine, 2020
Background BRCA1/2 VUSs represent an important clinical issue in risk assessment for the breast/ovarian cancer families (HBOC) families. Among them, some occurring within the intron‐exon boundary may lead to aberrant splicing process by altering or ...
Arianna Nicolussi, Francesca Belardinilli, Laura Ottini, Marialaura Petroni, Carlo Capalbo, Giuseppe Giannini, Anna Coppa   +6 more
doaj   +1 more source

Masculinity, Prostitution, and the Imaginary Northwest in Chinese Travel Writings About Shanxi and Western Inner Mongolia, 1920–1949

Gender &History, EarlyView.
ABSTRACT This article considers travel writings by metropolitan men in Republican China about Shanxi and western Inner Mongolia as a case study to further explore the transformations and continuities of Chinese masculinities. Drawing upon a range of popular travel narratives, it shows that so‐called “Worn‐Out Shoes (poxie)” – women perceived as ...
Amanda Zhang
wiley   +1 more source

New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.

PLoS ONE, 2014
Autoimmune polyglandular syndrome type 1 (APS-1, OMIM 240300) is a rare autosomal recessive disorder, characterized by the presence of at least two of three major diseases: hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis.
Mireia Mora, Felicia A Hanzu, Marta Pradas-Juni, Gloria B Aranda, Irene Halperin, Manuel Puig-Domingo, Sira Aguiló, Eduardo Fernández-Rebollo   +7 more
doaj   +1 more source

‘More Beastliness Than Beauty’: Gendering Pica in Seventeenth‐Century English Medicine and Culture

Gender &History, EarlyView.
ABSTRACT Today, defined as the ‘persistent eating of non‐nutritive substances’, pica is a lesser‐known eating disorder with a long history. Defined in early modern England as the ‘desire to eat absurd things’, pica was explicitly gendered, associated with pregnant women and pubescent girls.
Helena C. Aeberli
wiley   +1 more source

COMMON SENSE LAW: Making Right/s in the Liberal City

International Journal of Urban and Regional Research, EarlyView.
Abstract This article, co‐authored by encampment and university scholars, is concerned with how homeless persons challenge rightlessness. We do so by advancing a conceptual framework of common sense law, arguing that such contestations take place not only in courtrooms but also in the lived spaces of homelessness.
Ananya Roy, Jennifer Blake, Meghna Nair, Pamela Stephens   +3 more
wiley   +1 more source

PROS1 novel splice‐site variant decreases protein S expression in patients from two families with thrombotic disease

Clinical Case Reports, 2017
Key Clinical Message Our results prove that c.1871‐14T>G is causative of type I PS deficiency, highlighting the importance of performing mRNA‐based studies in order to evaluate variants pathogenicity.
Juliane Menezes, Célia Ventura, João Matos Costa, Elsa Parreira, Luísa Romão, João Gonçalves   +5 more
doaj   +1 more source