EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis

Chest - Tập 145 - Trang 231-236 - 2014
D. Hunter Best1,2, Kelli L. Sumner2, Eric D. Austin1,3, Wendy K. Chung4, Lynette M. Brown5,6, Alain C. Borczuk7, Erika B. Rosenzweig4, Pinar Bayrak-Toydemir2, Rong Mao2, Barbara C. Cahill8, Henry D. Tazelaar9, Kevin O. Leslie9, Anna R. Hemnes10, Ivan M. Robbins10, C. Gregory Elliott5,6
1Department of Pathology, The University of Utah, Salt Lake City, UT
2ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT
3Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN
4Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY
5Department of Medicine, School of Medicine, and Pulmonary Division, The University of Utah, Salt Lake City, UT
6Department of Medicine, Intermountain Medical Center, Intermountain Healthcare, Murray, UT
7Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY
8Department of Medicine, The University of Utah, Salt Lake City, UT
9Department of Laboratory Medicine and Pathology, Mayo Clinic Arizona, Mayo Foundation for Medical Education and Research, Scottsdale, AZ
10Division of Allergy, Pulmonary, and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN

Tài liệu tham khảo

Wagenvoort, 1978, Capillary haemangiomatosis of the lungs, Histopathology, 2, 401, 10.1111/j.1365-2559.1978.tb01734.x Bartyik, 2004, Pulmonary capillary haemangiomatosis in children and adolescents: report of a new case and a review of the literature, Eur J Pediatr, 163, 731, 10.1007/s00431-004-1527-5 El-Gabaly, 2007, Pulmonary capillary hemangiomatosis imaging findings and literature update, J Comput Assist Tomogr, 31, 608, 10.1097/01.rct.0000284393.76073.87 Eltorky, 1994, Pulmonary capillary hemangiomatosis: a clinicopathologic review, Ann Thorac Surg, 57, 772, 10.1016/0003-4975(94)90595-9 Faber, 1989, Pulmonary capillary hemangiomatosis. A report of three cases and a review of the literature, Am Rev Respir Dis, 140, 808, 10.1164/ajrccm/140.3.808 Bedsole, 2005, Pulmonary capillary hemangiomatosis: a consideration in unexplained pulmonary hypertension, Chest, 128, 460S, 10.1378/chest.128.4_MeetingAbstracts.460S Assaad, 2007, Platelet-derived growth factor is increased in pulmonary capillary hemangiomatosis, Chest, 131, 850, 10.1378/chest.06-1680 Ginns, 2003, Pulmonary capillary hemangiomatosis with atypical endotheliomatosis: successful antiangiogenic therapy with doxycycline, Chest, 124, 2017, 10.1378/chest.124.5.2017 Sullivan, 2005, Pulmonary capillary hemangiomatosis: an immunohistochemical analysis of vascular remodeling in a fatal case, Chest, 128, 576S, 10.1378/chest.128.6_suppl.576S-a Langleben, 1988, Familial pulmonary capillary hemangiomatosis resulting in primary pulmonary hypertension, Ann Intern Med, 109, 106, 10.7326/0003-4819-109-2-106 Wirbelauer, 2011, Familial pulmonary capillary hemangiomatosis early in life, Case Rep Pulmonol, 2011, 827591 Faiz, 2005, Don't clean out the garage?, Chest, 128, 494S, 10.1378/chest.128.4_MeetingAbstracts.494S Li, 2009, Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics, 25, 1754, 10.1093/bioinformatics/btp324 McKenna, 2010, The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data, Genome Res, 20, 1297, 10.1101/gr.107524.110 Ma, 2013, A novel channelopathy in pulmonary arterial hypertension, N Engl J Med, 369, 351, 10.1056/NEJMoa1211097 Simonneau, 2009, Updated clinical classification of pulmonary hypertension, J Am Coll Cardiol, 54, S43, 10.1016/j.jacc.2009.04.012 Berlanga, 1999, Characterization of a mammalian homolog of the GCN2 eukaryotic initiation factor 2alpha kinase, Eur J Biochem, 265, 754, 10.1046/j.1432-1327.1999.00780.x Wek, 2010, How do tumours adapt to nutrient stress?, EMBO J, 29, 1946, 10.1038/emboj.2010.110 Ye, 2010, The GCN2-ATF4 pathway is critical for tumour cell survival and proliferation in response to nutrient deprivation, EMBO J, 29, 2082, 10.1038/emboj.2010.81