Loss of Major DNase I Hypersensitive Sites in Duplicated ß-globin Gene Cluster Incompletely Silences HBB Gene Expression.

Reading, N Scott; Shooter, Claire; Song, Jihyun; Miller, Robin; Agarwal, Archana; Lanikova, Lucie; Clark, Barnaby; Thein, Swee Lay; Divoky, Vladimir; Prchal, Josef T

Reading, N Scott; Shooter, Claire; Song, Jihyun; Miller, Robin; Agarwal, Archana; Lanikova, Lucie; Clark, Barnaby; Thein, Swee Lay; Divoky, Vladimir; Prchal, Josef T.

Afiliação

Reading NS; Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah.
Shooter C; Division of Hematology, Department of Internal Medicine, School of Medicine, University of Utah, Salt Lake City, Utah.
Song J; Department of Pathology, School of Medicine, University of Utah, Salt Lake City, Utah.
Miller R; Molecular Haematology, Division of Cancer Studies, King's College London Faculty of Life Sciences & Medicine, London, UK.
Agarwal A; Division of Hematology, Department of Internal Medicine, School of Medicine, University of Utah, Salt Lake City, Utah.
Lanikova L; Center for Cancer and Blood Disorders, Nemours/El Dupont Hospital for Children, Wilmington, Delaware.
Clark B; Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah.
Thein SL; Department of Pathology, School of Medicine, University of Utah, Salt Lake City, Utah.
Divoky V; Division of Hematology, Department of Internal Medicine, School of Medicine, University of Utah, Salt Lake City, Utah.
Prchal JT; Department of Cell and Developmental Biology, Institute of Molecular Genetics, Academy of Sciences of the Czech Republic, Prague, Czech Republic.

Hum Mutat ; 37(11): 1153-1156, 2016 11.

Article em En | MEDLINE | ID: mdl-27492747

Assuntos

Anemia Falciforme/genética; Genes Duplicados; Globinas beta/genética; Região 3'-Flanqueadora; Feminino; Inativação Gênica; Humanos; Lactente; Região de Controle de Locus Gênico; Mutação; Transcrição Gênica

Palavras-chave

HBB duplication; globin genes; regulation; sickle cell disease

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genes Duplicados / Globinas beta / Anemia Falciforme Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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