التفاصيل البيبلوغرافية
العنوان:
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome
المؤلفون:
Adriana A. de Jesus , Guibin Chen , Dan Yang , Tomas Brdicka , Natasha M. Ruth , David Bennin , Dita Cebecauerova , Hana Malcova , Helen Freeman , Neil Martin , Karel Svojgr , Murray H. Passo , Farzana Bhuyan , Sara Alehashemi , Andre T. Rastegar , Katsiaryna Uss , Lela Kardava , Bernadette Marrero , Iris Duric , Ebun Omoyinmi , Petra Peldova , Chyi-Chia Richard Lee , David E. Kleiner , Colleen M. Hadigan , Stephen M. Hewitt , Stefania Pittaluga , Carmelo Carmona-Rivera , Katherine R. Calvo , Nirali Shah , Miroslava Balascakova , Danielle L. Fink , Radana Kotalova , Zuzana Parackova , Lucie Peterkova , Daniela Kuzilkova , Vit Campr , Lucie Sramkova , Angelique Biancotto , Stephen R. Brooks , Cameron Manes , Eric Meffre , Rebecca L. Harper , Hyesun Kuehn , Mariana J. Kaplan , Paul Brogan , Sergio D. Rosenzweig , Melinda Merchant , Zuoming Deng , Anna Huttenlocher , Susan L. Moir , Douglas B. Kuhns , Manfred Boehm , Karolina Skvarova Kramarzova , Raphaela Goldbach-Mansky
المصدر:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
بيانات النشر:
Nature Portfolio, 2023.
سنة النشر:
2023
المجموعة:
LCC:Science
مصطلحات موضوعية:
Science
الوصف:
Neutrophilic inflammation is a hallmark of many monogenic autoinflammatory diseases. Here the authors report a case series of three unrelated boys with perinatal-onset of neutrophilic cutaneous small vessel vasculitis and systemic inflammation, and identify de novo truncating and missense variants in the Src-family tyrosine kinase LYN.
نوع الوثيقة:
article
وصف الملف:
electronic resource
اللغة:
English
تدمد:
2041-1723
Relation:
https://doaj.org/toc/2041-1723
DOI:
10.1038/s41467-023-36941-y
URL الوصول:
https://doaj.org/article/ae467ac9fc384475ae6d8259f8ad7971
رقم الأكسشن:
edsdoj.467ac9fc384475ae6d8259f8ad7971
قاعدة البيانات:
Directory of Open Access Journals
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