Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia.

Natarajan, Karthick; Eisfeldt, Jesper; Hammond, Maria; Laffita-Mesa, José Miguel; Patra, Kalicharan; Khoshnood, Behzad; Öijerstedt, Linn; Graff, Caroline

Natarajan, Karthick; Eisfeldt, Jesper; Hammond, Maria; Laffita-Mesa, José Miguel; Patra, Kalicharan; Khoshnood, Behzad; Öijerstedt, Linn; Graff, Caroline.

Afiliação

Natarajan K; Division for Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Karolinska Institutet, Stockholm, Sweden. karthickn1982@gmail.com.
Eisfeldt J; Unit for Hereditary Dementias, Clinical Genetics, Karolinska University Hospital-Solna, Stockholm, Sweden. karthickn1982@gmail.com.
Hammond M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Laffita-Mesa JM; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden.
Patra K; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Khoshnood B; Division for Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Karolinska Institutet, Stockholm, Sweden.
Öijerstedt L; Unit for Hereditary Dementias, Clinical Genetics, Karolinska University Hospital-Solna, Stockholm, Sweden.
Graff C; Division for Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Karolinska Institutet, Stockholm, Sweden.

Acta Neuropathol Commun ; 9(1): 132, 2021 08 03.

Article em En | MEDLINE | ID: mdl-34344473

Assuntos

Cromatina/metabolismo; Lobo Frontal/metabolismo; Demência Frontotemporal/genética; Microglia/metabolismo; Penetrância; Progranulinas/genética; Idoso de 80 Anos ou mais; Feminino; Lobo Frontal/patologia; Demência Frontotemporal/metabolismo; Demência Frontotemporal/patologia; Perfilação da Expressão Gênica; Heterozigoto; Histonas/metabolismo; Humanos; Microglia/patologia; Mutação; Progranulinas/metabolismo; Análise de Célula Única

Palavras-chave

CITE-Seq; Frontotemporal dementia; Haploinsufficiency; Human genetic disorders; Neurodegenerative disorders; Nuclei multiplexing; Progranulin; Reduced penetrance

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromatina / Microglia / Penetrância / Demência Frontotemporal / Progranulinas / Lobo Frontal Tipo de estudo: Observational_studies / Prognostic_studies Limite: Aged80 / Female / Humans Idioma: En Revista: Acta Neuropathol Commun Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suécia

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