Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue.

Oakley, Julia; Hill, Martin; Giess, Adam; Tanguy, Mélanie; Elgar, Greg

Oakley, Julia; Hill, Martin; Giess, Adam; Tanguy, Mélanie; Elgar, Greg.

Afiliação

Oakley J; Independent researcher, Hampshire, UK.
Hill M; Department of Steroids and Proteofactors, Institute of Endocrinology, Národni 8, 11694, Prague, Czech Republic.
Giess A; Scientific Research and Development, Genomics England, London, UK.
Tanguy M; Scientific Research and Development, Genomics England, London, UK.
Elgar G; Scientific Research and Development, Genomics England, London, UK. Greg.Elgar@genomicsengland.co.uk.

J Transl Med ; 21(1): 825, 2023 11 17.

Article em En | MEDLINE | ID: mdl-37978513

Assuntos

Síndrome de Fadiga Crônica; Humanos; Espectrometria de Massas em Tandem; Biomarcadores; Hidroxiesteroide Desidrogenases

Palavras-chave

AKR1C1; AKR1C2; Allopregnanolone; Fatigue; Long read sequencing; ME/CFS diagnosis; Neurosteroids; Structural variants

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Fadiga Crônica Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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