3 research outputs found

    Still Waiting: An analysis of the permeation of racial stereotypes in top-grossing Black Romance films from the 1960s to the 2000s

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    In this study, I compare how films portray relationships involving Black people, over the course of 5 decades. I do this by analyzing the characters and relationships in the top-grossing film from each decade (1960’s through 2000’s), that have a focus on Black love. I started this journey curious about how the silver screen portrayed how Black people loved romantically. As a person who regularly frequents my local major movie theatre, I had become tired of only seeing Black actors in comedies, Black men in drag and buddy dramas. I also grew tired of the sappy love stories featuring White protagonists and the predictable nature of their films. I set out to analyze the life of the relationship, the common interests of the characters and how characters in the film external of the relationship viewed the relationship. Though I could have done research on independent films, where I might have found the prevalence of Black characters on a more regular basis, I thought it was crucial to analyze what major studios and theatres thought was digestible to the major public

    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

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    International audiencePurpose:CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1C variation may also be associated with a primarily neurological phenotype.Methods:We describe 25 individuals from 22 families with heterozygous variants in CACNA1C, who present with predominantly neurological manifestations.Results:Fourteen individuals have de novo, nontruncating variants and present variably with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy. Functional studies of a subgroup of missense variants via patch clamp experiments demonstrated differential effects on channel function in vitro, including loss of function (p.Leu1408Val), neutral effect (p.Leu614Arg), and gain of function (p.Leu657Phe, p.Leu614Pro). The remaining 11 individuals from eight families have truncating variants in CACNA1C. The majority of these individuals have expressive language deficits, and half have autism.Conclusion:We expand the phenotype associated with CACNA1C variants to include neurodevelopmental abnormalities and epilepsy, in the absence of classic features of Timothy syndrome or long QT syndrome
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