WD Repeat Domain 1 (WDR1) Deficiency Presenting as a Cause of Infantile Inflammatory Bowel Disease
暂无分享,去创建一个
D. Dickens | J. Prokop | U. Duffner | N. Hartog | Peter N. Freswick | A. Abdel-Mageed | J. Stumph | Jenna Millstead | A. Kamat
[1] J. Kelsen,et al. North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on the Evaluation and Management for Patients With Very Early-onset Inflammatory Bowel Disease. , 2020, Journal of pediatric gastroenterology and nutrition.
[2] F. D’Arco,et al. Monogenic mimics of Behçet's disease in the young. , 2019, Rheumatology.
[3] A. Pagnamenta,et al. Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation , 2019, Journal of Crohn's & colitis.
[4] R. Geha,et al. Primary immunodeficiencies caused by mutations in actin regulatory proteins , 2018, Immunological reviews.
[5] M. van der Burg,et al. Mutations affecting the actin regulator WD repeat–containing protein 1 lead to aberrant lymphoid immunity , 2018, The Journal of allergy and clinical immunology.
[6] Shoichiro Ono,et al. Functions of actin-interacting protein 1 (AIP1)/WD repeat protein 1 (WDR1) in actin filament dynamics and cytoskeletal regulation. , 2017, Biochemical and biophysical research communications.
[7] C. Moran. Very early onset inflammatory bowel disease. , 2017, Seminars in pediatric surgery.
[8] N. Klein,et al. Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1 , 2017, The Journal of experimental medicine.
[9] Vanessa A Mackley,et al. Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency. , 2016, Blood.
[10] C. Klein,et al. Very Early-onset In fl ammatory Bowel Disease : Gaining Insight Through Focused Discovery , 2022 .
[11] C. Klein,et al. The diagnostic approach to monogenic very early onset inflammatory bowel disease. , 2014, Gastroenterology.
[12] Y. Fujiwara,et al. Dislocation of tight junction proteins without F-actin disruption in inactive Crohn's disease. , 2005, International journal of molecular medicine.