Results 61 to 70 of about 2,885,338 (147)
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. [PDF]
PLoS ONE, 2013 Leber congenital amaurosis (LCA) is the most severe form of retinal dystrophy with an onset in the first year of life. The most frequent genetic cause of LCA, accounting for up to 15% of all LCA cases in Europe and North-America, is a mutation (c.2991 ...
Alejandro Garanto +5 more
doaj +1 more source
Minigene analysis with specific primers for the natural or cryptic c.386+4 splice sites.
, 2015 A) Schematic drawing of the location of the primers, the murine and human cryptic splice sites and the sequence targeted by the AON. The star indicates the presence of the c.386G>A mutation. cVss: cryptic vector acceptor splice site.
Belén Pérez (2536582) +8 more
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin +10 more
wiley +1 more source
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
Molecular Genetics & Genomic Medicine, 2019 Background Pre‐mRNA splicing is a complex process requiring the identification of donor site, acceptor site, and branch point site with an adjacent polypyrimidine tract sequence.
Upendra K. Katneni +8 more
doaj +1 more source
Haematologica, 2008 We evaluated FV mRNA in severe factor V deficiency caused by the -12T/A IVS18 mutation, activating a cryptic splice site and leading to premature translation termination. Quantitative evaluation of factor V cDNA from homozygous and heterozygous subjects,
Barbara Lunghi +4 more
doaj +1 more source
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
Activation of a cryptic 5′ splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene [PDF]
, 2017 Spinal muscular atrophy (SMA) is caused by deletions or mutations of the Survival Motor Neuron 1 (SMN1) gene coupled with predominant skipping of SMN2 exon 7.
Eric W. Ottesen +11 more
core +1 more source
The Political Ecology of the ‘New’ Feminism in Late‐1990s Britain
Gender &History, EarlyView.ABSTRACT The 1990s were a vexed time for feminists in Britain. Cultural commentators declared that feminism's key battles had been won, and that given women's ascendency across various political and cultural barometers of success, the country was entering a newly ‘postfeminist’ era.
Sarah Crook
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 +3 more
wiley +1 more source
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 +6 more
doaj +1 more source