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1.
Clin J Am Soc Nephrol ; 13(4): 551-559, 2018 04 06.
Artigo em Inglês | MEDLINE | ID: mdl-29545381

RESUMO

BACKGROUND AND OBJECTIVES: Incidence of ESKD is three times higher in black Americans than in whites, and CKD prevalence continues to rise among black Americans. Community-based kidney disease screening may increase early identification and awareness of black Americans at risk, but it is challenging to implement. This study aimed to identify participants' perspectives of community kidney disease screening. The Health Belief Model provides a theoretic framework for conceptualization of these perspectives and optimization of community kidney disease screening activities. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Researchers in collaboration with the Tennessee Kidney Foundation conducted three focus groups of adults in black American churches in Nashville, Tennessee. Questions examined views on CKD information, access to care, and priorities of kidney disease health. Content analysis was used. Guided by the Health Belief Model, a priori themes were generated, and additional themes were derived from the data using an inductive approach. RESULTS: Thirty-two black Americans completed the study in 2014. Participants were mostly women (79%) with a mean age of 56 years old (range, 24-78). Two major categories of barriers to kidney disease screening were identified: (1) participant factors, including limited kidney disease knowledge, spiritual/religious beliefs, emotions, and culture of the individual; and (2) logistic factors, including lack of convenience and incentives and poor advertisement. Potential facilitators of CKD screening included provision of CKD education, convenience of screening activities, and use of culturally sensitive and enhanced communication strategies. Program recommendations included partnering with trusted community members, selecting convenient locations, tailored advertising, and provision of compensation. CONCLUSIONS: Findings of this study suggest that provider-delivered culturally sensitive education and stakeholder engagement are critical to increase trust, decrease fear, and maximize participation and early identification of kidney disease among black Americans considering community screening.


Assuntos
Negro ou Afro-Americano , Serviços de Saúde Comunitária , Conhecimentos, Atitudes e Prática em Saúde/etnologia , Nefropatias/diagnóstico , Adulto , Publicidade , Negro ou Afro-Americano/psicologia , Idoso , Competência Cultural , Emoções , Feminino , Grupos Focais , Educação em Saúde , Acessibilidade aos Serviços de Saúde , Humanos , Nefropatias/economia , Nefropatias/etnologia , Masculino , Pessoa de Meia-Idade , Motivação , Religião , Confiança , Adulto Jovem
2.
Sci Rep ; 7(1): 2244, 2017 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-28533524

RESUMO

CRISPR-Cas9 technology has accelerated biological research becoming routine for many laboratories. It is rapidly replacing conventional gene editing techniques and has high utility for both genome-wide and gene-focussed applications. Here we present the first individually cloned CRISPR-Cas9 genome wide arrayed sgRNA libraries covering 17,166 human and 20,430 mouse genes at a complexity of 34,332 sgRNAs for human and 40,860 sgRNAs for the mouse genome. For flexibility in generating stable cell lines the sgRNAs have been cloned in a lentivirus backbone containing PiggyBac transposase recognition elements together with fluorescent and drug selection markers. Over 95% of tested sgRNA induced specific DNA cleavage as measured by CEL-1 assays. Furthermore, sgRNA targeting GPI anchor protein pathway genes induced loss of function mutations in human and mouse cell lines measured by FLAER labelling. These arrayed libraries offer the prospect for performing screens on individual genes, combinations as well as larger gene sets. They also facilitate rapid deconvolution of signals from genome-wide screens. This set of vectors provide an organized comprehensive gene editing toolbox of considerable scientific value.


Assuntos
Sistemas CRISPR-Cas , Edição de Genes , Estudo de Associação Genômica Ampla , Animais , Proteínas Ligadas por GPI/metabolismo , Edição de Genes/métodos , Biblioteca Gênica , Vetores Genéticos , Estudo de Associação Genômica Ampla/métodos , Humanos , Lentivirus/genética , Camundongos , Fenótipo , RNA Guia de Cinetoplastídeos , Transdução de Sinais
3.
Nature ; 434(7034): 724-31, 2005 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-15815621

RESUMO

Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received attention primarily related to the search for the Huntington's disease gene, but also for genes associated with Wolf-Hirschhorn syndrome, polycystic kidney disease and a form of muscular dystrophy. Here we present approximately 237 million base pairs of sequence for chromosome 2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. Our initial analyses have identified 1,346 protein-coding genes and 1,239 pseudogenes on chromosome 2, and 796 protein-coding genes and 778 pseudogenes on chromosome 4. Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions.


Assuntos
Cromossomos Humanos Par 2/genética , Cromossomos Humanos Par 4/genética , Animais , Composição de Bases , Sequência de Bases , Centrômero/genética , Sequência Conservada/genética , Ilhas de CpG/genética , Eucromatina/genética , Etiquetas de Sequências Expressas , Duplicação Gênica , Variação Genética/genética , Genômica , Humanos , Dados de Sequência Molecular , Mapeamento Físico do Cromossomo , Polimorfismo Genético/genética , Primatas/genética , Proteínas/genética , Pseudogenes/genética , RNA Mensageiro/análise , RNA Mensageiro/genética , RNA não Traduzido/análise , RNA não Traduzido/genética , Recombinação Genética/genética , Análise de Sequência de DNA
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