Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations.

Ressler, Andrew K; Snellings, Daniel A; Girard, Romuald; Gallione, Carol J; Lightle, Rhonda; Allen, Andrew S; Awad, Issam A; Marchuk, Douglas A

Ressler, Andrew K; Snellings, Daniel A; Girard, Romuald; Gallione, Carol J; Lightle, Rhonda; Allen, Andrew S; Awad, Issam A; Marchuk, Douglas A.

Afiliação

Ressler AK; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, 27710, USA. akr55@duke.edu.
Snellings DA; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, 27710, USA.
Girard R; Neurovascular Surgery Program, Department of Neurological Surgery, The University of Chicago Medicine and Biological Sciences, Chicago, IL, USA.
Gallione CJ; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, 27710, USA.
Lightle R; Neurovascular Surgery Program, Department of Neurological Surgery, The University of Chicago Medicine and Biological Sciences, Chicago, IL, USA.
Allen AS; Department of Biostatistics and Bioinformatics, Duke University, Durham, NC, 27710, USA.
Awad IA; Neurovascular Surgery Program, Department of Neurological Surgery, The University of Chicago Medicine and Biological Sciences, Chicago, IL, USA.
Marchuk DA; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, 27710, USA. douglas.marchuk@duke.edu.

Nat Commun ; 14(1): 7009, 2023 11 02.

Article em En | MEDLINE | ID: mdl-37919320

Assuntos

Hemangioma Cavernoso do Sistema Nervoso Central; Humanos; Hemangioma Cavernoso do Sistema Nervoso Central/genética; Hemangioma Cavernoso do Sistema Nervoso Central/patologia; Proteína KRIT1/genética; Proteínas Proto-Oncogênicas/genética; Proteínas Reguladoras de Apoptose/genética; Mutação; Análise de Sequência de DNA

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hemangioma Cavernoso do Sistema Nervoso Central Limite: Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos

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