Functional validation reveals the novel missense V419L variant in <i>TGFBR2</i> associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-ß signaling.

Cousin, Margot A; Zimmermann, Michael T; Mathison, Angela J; Blackburn, Patrick R; Boczek, Nicole J; Oliver, Gavin R; Lomberk, Gwen A; Urrutia, Raul A; Deyle, David R; Klee, Eric W

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-ß signaling.

Cousin, Margot A; Zimmermann, Michael T; Mathison, Angela J; Blackburn, Patrick R; Boczek, Nicole J; Oliver, Gavin R; Lomberk, Gwen A; Urrutia, Raul A; Deyle, David R; Klee, Eric W.

Afiliação

Cousin MA; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Zimmermann MT; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
Mathison AJ; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Blackburn PR; Laboratory of Epigenetics and Chromatin Dynamics, Gastroenterology Research Unit, Department of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
Boczek NJ; Department of Health Sciences Research, Mayo Clinic, Jacksonville, Florida 32224, USA.
Oliver GR; Center for Individualized Medicine, Mayo Clinic, Jacksonville, Florida 32224, USA.
Lomberk GA; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Urrutia RA; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
Deyle DR; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Klee EW; Laboratory of Epigenetics and Chromatin Dynamics, Gastroenterology Research Unit, Department of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.

Cold Spring Harb Mol Case Stud ; 3(4)2017 07.

Article em En | MEDLINE | ID: mdl-28679693

Assuntos

Síndrome de Loeys-Dietz/genética; Proteínas Serina-Treonina Quinases/genética; Receptores de Fatores de Crescimento Transformadores beta/genética; Adulto; Humanos; Masculino; Síndrome de Marfan/genética; Mutação; Mutação de Sentido Incorreto/genética; Fosforilação; Proteínas Serina-Treonina Quinases/metabolismo; Receptor do Fator de Crescimento Transformador beta Tipo II; Receptores de Fatores de Crescimento Transformadores beta/metabolismo; Transdução de Sinais; Proteína Smad2/genética; Proteína Smad2/metabolismo; Fator de Crescimento Transformador beta/metabolismo

Palavras-chave

aneurysm of an abdominal artery; aortic root dilatation; arterial tortuosity; arthralgia/arthritis; dental crowding; dolichocephaly; hip subluxation; inguinal hernia; joint laxity; malar flattening; pes planus; shoulder subluxation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Serina-Treonina Quinases / Receptores de Fatores de Crescimento Transformadores beta / Síndrome de Loeys-Dietz Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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