| 1 | ADA2, DBAL1
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| Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity.
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| Moens L, Hershfield M, Arts K, Aksentijevich I, Meyts I.
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| Immunol Rev 287(1):62-72. doi: 10.1111/imr.12722. Review.
2019
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| 2 | ADA2, DBAL1
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| The Genetic Landscape of Diamond-Blackfan Anemia.
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| Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT.
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| Am J Hum Genet 103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. 2018
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| 3 | ADA2, DBAL1
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| Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia.
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| Claassen D, Boals M, Bowling KM, Cooper GM, Cox J, Hershfield M, Lewis S, Wlodarski M, Weiss MJ, Estepp JH.
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| Cold Spring Harb Mol Case Stud 4(6). pii: a003384. doi: 10.1101/mcs.a003384. Print 2018 Dec.
2018
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| 4 | ADA2, DBAL1
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| Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.
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| Lee PY.
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| Front Pediatr 6:282. doi: 10.3389/fped.2018.00282. eCollection 2018. Review.
2018
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| 5 | ADA2, DBAL1
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| ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease.
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| Van Nieuwenhove E, Humblet-Baron S, Van Eyck L, De Somer L, Dooley J, Tousseyn T, Hershfield M, Liston A, Wouters C.
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| Pediatrics 142(3). pii: e20172266. doi: 10.1542/peds.2017-2266.
2018
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| 6 | ADA2
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| Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.
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| Lee PY, Huang Y, Zhou Q, Schnappauf O, Hershfield MS, Li Y, Ganson NJ, Sampaio Moura N, Delmonte OM, Stone SS, Rivkin MJ, Pai SY, Lyons T, Sundel RP, Hsu VW, Notarangelo LD, Aksentijevich I, Nigrovic PA.
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| J Allergy Clin Immunol 142(4):1363-1365.e8. doi: 10.1016/j.jaci.2018.05.038. Epub 2018 Jun 21. No abstract available. 2018
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| 7 | ADA2, DBAL1
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| Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.
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| Hashem H, Kumar AR, Müller I, Babor F, Bredius R, Dalal J, Hsu AP, Holland SM, Hickstein DD, Jolles S, Krance R, Sasa G, Taskinen M, Koskenvuo M, Saarela J, van Montfrans J, Wilson K, Bosch B, Moens L, Hershfield M, Meyts I; Deficiency of Adenosine Deaminase Type 2 Foundation.
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| Blood 130(24):2682-2688. doi: 10.1182/blood-2017-07-798660. Epub 2017 Oct 3.
2017
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| 8 | ADA2
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| CECR1-mediated cross talk between macrophages and vascular mural cells promotes neovascularization in malignant glioma.
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| Zhu C, Chrifi I, Mustafa D, van der Weiden M, Leenen PJM, Duncker DJ, Kros JM, Cheng C.
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| Oncogene 36(38):5356-5368. doi: 10.1038/onc.2017.145. Epub 2017 May 22.
2017
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| 9 | ADA2, DBAL1
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| Monogenic polyarteritis: the lesson of ADA2 deficiency.
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| Caorsi R, Penco F, Schena F, Gattorno M.
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| Pediatr Rheumatol Online J 14(1):51. doi: 10.1186/s12969-016-0111-7. Review.
2016
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| 10 | ADA2
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| Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency.
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| Westendorp WF, Nederkoorn PJ, Aksentijevich I, Hak AE, Lichtenbelt KD, Braun KP.
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| Neurology 84(20):2092-3. doi: 10.1212/WNL.0000000000001581. Epub 2015 Apr 17. No abstract available.
2015
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| 11 | ADA2
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| Mutations in CECR1 associated with a neutrophil signature in peripheral blood.
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| Belot A, Wassmer E, Twilt M, Lega JC, Zeef LA, Oojageer A, Kasher PR, Mathieu AL, Malcus C, Demaret J, Fabien N, Collardeau-Frachon S, Mechtouff L, Derex L, Walzer T, Rice GI, Durieu I, Crow YJ.
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| Pediatr Rheumatol Online J 12:44. doi: 10.1186/1546-0096-12-44. eCollection 2014.
2014
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| 12 | ADA2
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| Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
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| Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E.
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| N Engl J Med 370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19.
2014
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| 13 | ADA2, DBAL1
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| Early-onset stroke and vasculopathy associated with mutations in ADA2.
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| Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I.
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| N Engl J Med 370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19.
2014
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| 14 | ADA2
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| Potential roles of adenosine deaminase-2 in diabetic retinopathy.
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| Elsherbiny NM, Naime M, Ahmad S, Elsherbini AM, Mohammad S, Fulzele S, El-Remessy AB, Al-Gayyar MM, Eissa LA, El-Shishtawy MM, Han G, White R, Haroldo TF, Liou GI.
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| Biochem Biophys Res Commun 436(3):355-61. doi: 10.1016/j.bbrc.2013.05.023. Epub 2013 May 16.
2013
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| 15 | ADA1, ADA2
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| Structural basis for the growth factor activity of human adenosine deaminase ADA2.
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| Zavialov AV, Yu X, Spillmann D, Lauvau G, Zavialov AV.
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| J Biol Chem 285(16):12367-77. doi: 10.1074/jbc.M109.083527. Epub 2010 Feb 9.
2010
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| 16 | ADA, ADA2
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| Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity.
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| Zavialov AV, Engstrom A.
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| Biochem J 391(Pt 1):51-7. 2005
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| 17 | ADA2, ATP6V1E1, BID, CECR2, CECR3, CECR4, CECR5, CECR6, CECR7, CECR8, CECR9, CES, SLC25A18
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| Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere.
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| Footz TK, Brinkman-Mills P, Banting GS, Maier SA, Riazi MA, Bridgland L, Hu S, Birren B, Minoshima S, Shimizu N, Pan H, Nguyen T, Fang F, Fu Y, Ray L, Wu H, Shaull S, Phan S, Yao Z, Chen F, Huan A, Hu P, Wang Q, Loh P, Qi S, Roe BA, McDermid HE.
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| Genome Res 11(6):1053-70. 2001
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| 18 | ADA2, CES
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| The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome.
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| Riazi MA, Brinkman-Mills P, Nguyen T, Pan H, Phan S, Ying F, Roe BA, Tochigi J, Shimizu Y, Minoshima S, Shimizu N, Buchwald M, McDermid HE.
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| Genomics 64(3):277-85. 2000
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| 19 | ADA2
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| Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints.
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| McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE.
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| Cytogenet Cell Genet 81(3-4):222-8. 1998
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