A novel missense mutation in a leucine-rich repeat of GPIb&#945; in a Bernard-Soulier variant reduces shear-dependent adherence on von Willebrand factor.

Proulle, Valerie; Strassel, Catherine; Perrault, Christelle; Baas, Marie-Jeanne; Moog, Sylvie; Mangin, Pierre; Nurden, Paquita; Nurden, Alan; Adam, Frederic; Bryckaert, Marijke; Kauskot, Alexandre; Li, Renhao; Lanza, Francois

A novel missense mutation in a leucine-rich repeat of GPIbα in a Bernard-Soulier variant reduces shear-dependent adherence on von Willebrand factor.

Proulle, Valerie; Strassel, Catherine; Perrault, Christelle; Baas, Marie-Jeanne; Moog, Sylvie; Mangin, Pierre; Nurden, Paquita; Nurden, Alan; Adam, Frederic; Bryckaert, Marijke; Kauskot, Alexandre; Li, Renhao; Lanza, Francois.

Afiliación

Proulle V; Service Hématologie Biologique, Hôpitaux Universitaires Paris-Sud, Hôpital Bicêtre, AP-HP, Le Kremlin-Bicêtre, France.
Strassel C; INSERM UMR_S1176, Université Paris-Sud Paris-Saclay, Le Kremlin-Bicêtre, France.
Perrault C; EFS Grand Est, BPPS UMR_S 1225, FMTS, Université de Strasbourg, INSERM, Strasbourg, France.
Baas MJ; EFS Grand Est, BPPS UMR_S 1225, FMTS, Université de Strasbourg, INSERM, Strasbourg, France.
Moog S; EFS Grand Est, BPPS UMR_S 1225, FMTS, Université de Strasbourg, INSERM, Strasbourg, France.
Mangin P; EFS Grand Est, BPPS UMR_S 1225, FMTS, Université de Strasbourg, INSERM, Strasbourg, France.
Nurden P; EFS Grand Est, BPPS UMR_S 1225, FMTS, Université de Strasbourg, INSERM, Strasbourg, France.
Nurden A; Institut Hospitalo Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France.
Adam F; Institut Hospitalo Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France.
Bryckaert M; INSERM UMR_S1176, Université Paris-Sud Paris-Saclay, Le Kremlin-Bicêtre, France.
Kauskot A; INSERM UMR_S1176, Université Paris-Sud Paris-Saclay, Le Kremlin-Bicêtre, France.
Li R; INSERM UMR_S1176, Université Paris-Sud Paris-Saclay, Le Kremlin-Bicêtre, France.
Lanza F; Aflac Cancer and Blood Disorders Center, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.

Br J Haematol ; 186(6): e184-e187, 2019 09.

Article en En | MEDLINE | ID: mdl-31257572

Asunto(s)

Síndrome de Bernard-Soulier; Mutación Missense; Adhesividad Plaquetaria/genética; Complejo GPIb-IX de Glicoproteína Plaquetaria; Factor de von Willebrand; Síndrome de Bernard-Soulier/genética; Síndrome de Bernard-Soulier/metabolismo; Preescolar; Humanos; Masculino; Complejo GPIb-IX de Glicoproteína Plaquetaria/genética; Complejo GPIb-IX de Glicoproteína Plaquetaria/metabolismo; Secuencias Repetitivas de Aminoácido; Factor de von Willebrand/genética; Factor de von Willebrand/metabolismo

Palabras clave

Bernard Soulier syndrome; adhesion; leucine-rich repeat; platelet glycoprotein Ib alpha; von Willebrand factor

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Bernard-Soulier / Factor de von Willebrand / Adhesividad Plaquetaria / Complejo GPIb-IX de Glicoproteína Plaquetaria / Mutación Missense Límite: Child, preschool / Humans / Male Idioma: En Revista: Br J Haematol Año: 2019 Tipo del documento: Article País de afiliación: Francia

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