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Emm-null phenotype

MedGen UID:
1801903
Concept ID:
C5677026
Finding
Synonyms: EMM-NULL PHENOTYPE; Emm-null red blood cell phenotype
 
OMIM®: 616918; 619812

Professional guidelines

PubMed

Izquierdo M, Merchant RA, Morley JE, Anker SD, Aprahamian I, Arai H, Aubertin-Leheudre M, Bernabei R, Cadore EL, Cesari M, Chen LK, de Souto Barreto P, Duque G, Ferrucci L, Fielding RA, García-Hermoso A, Gutiérrez-Robledo LM, Harridge SDR, Kirk B, Kritchevsky S, Landi F, Lazarus N, Martin FC, Marzetti E, Pahor M, Ramírez-Vélez R, Rodriguez-Mañas L, Rolland Y, Ruiz JG, Theou O, Villareal DT, Waters DL, Won Won C, Woo J, Vellas B, Fiatarone Singh M
J Nutr Health Aging 2021;25(7):824-853. doi: 10.1007/s12603-021-1665-8. PMID: 34409961
Graus F, Vogrig A, Muñiz-Castrillo S, Antoine JG, Desestret V, Dubey D, Giometto B, Irani SR, Joubert B, Leypoldt F, McKeon A, Prüss H, Psimaras D, Thomas L, Titulaer MJ, Vedeler CA, Verschuuren JJ, Dalmau J, Honnorat J
Neurol Neuroimmunol Neuroinflamm 2021 Jul;8(4) Epub 2021 May 18 doi: 10.1212/NXI.0000000000001014. PMID: 34006622Free PMC Article
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article

Recent clinical studies

Etiology

Khan MS, Arshad MS, Greene SJ, Van Spall HGC, Pandey A, Vemulapalli S, Perakslis E, Butler J
Eur J Heart Fail 2023 Sep;25(9):1507-1525. Epub 2023 Sep 8 doi: 10.1002/ejhf.2994. PMID: 37560778
Chung KF, Dixey P, Abubakar-Waziri H, Bhavsar P, Patel PH, Guo S, Ji Y
Chin Med J (Engl) 2022 May 20;135(10):1141-1155. doi: 10.1097/CM9.0000000000001990. PMID: 35633594Free PMC Article
Hou YC, Yu HC, Martin R, Cirulli ET, Schenker-Ahmed NM, Hicks M, Cohen IV, Jönsson TJ, Heister R, Napier L, Swisher CL, Dominguez S, Tang H, Li W, Perkins BA, Barea J, Rybak C, Smith E, Duchicela K, Doney M, Brar P, Hernandez N, Kirkness EF, Kahn AM, Venter JC, Karow DS, Caskey CT
Proc Natl Acad Sci U S A 2020 Feb 11;117(6):3053-3062. Epub 2020 Jan 24 doi: 10.1073/pnas.1909378117. PMID: 31980526Free PMC Article
Leopold JA, Loscalzo J
Circ Res 2018 Apr 27;122(9):1302-1315. doi: 10.1161/CIRCRESAHA.117.310782. PMID: 29700074Free PMC Article
Navarini AA, Burden AD, Capon F, Mrowietz U, Puig L, Köks S, Kingo K, Smith C, Barker JN; ERASPEN Network
J Eur Acad Dermatol Venereol 2017 Nov;31(11):1792-1799. Epub 2017 Aug 29 doi: 10.1111/jdv.14386. PMID: 28585342

Diagnosis

Chung KF, Dixey P, Abubakar-Waziri H, Bhavsar P, Patel PH, Guo S, Ji Y
Chin Med J (Engl) 2022 May 20;135(10):1141-1155. doi: 10.1097/CM9.0000000000001990. PMID: 35633594Free PMC Article
Hou YC, Yu HC, Martin R, Cirulli ET, Schenker-Ahmed NM, Hicks M, Cohen IV, Jönsson TJ, Heister R, Napier L, Swisher CL, Dominguez S, Tang H, Li W, Perkins BA, Barea J, Rybak C, Smith E, Duchicela K, Doney M, Brar P, Hernandez N, Kirkness EF, Kahn AM, Venter JC, Karow DS, Caskey CT
Proc Natl Acad Sci U S A 2020 Feb 11;117(6):3053-3062. Epub 2020 Jan 24 doi: 10.1073/pnas.1909378117. PMID: 31980526Free PMC Article
Navarini AA, Burden AD, Capon F, Mrowietz U, Puig L, Köks S, Kingo K, Smith C, Barker JN; ERASPEN Network
J Eur Acad Dermatol Venereol 2017 Nov;31(11):1792-1799. Epub 2017 Aug 29 doi: 10.1111/jdv.14386. PMID: 28585342
Battaglia A, Carey JC, South ST
Am J Med Genet C Semin Med Genet 2015 Sep;169(3):216-23. Epub 2015 Aug 4 doi: 10.1002/ajmg.c.31449. PMID: 26239400
Amarenco P, Bogousslavsky J, Caplan LR, Donnan GA, Hennerici MG
Cerebrovasc Dis 2009;27(5):493-501. Epub 2009 Apr 3 doi: 10.1159/000210432. PMID: 19342825

Therapy

Brightling C, Greening N
Eur Respir J 2019 Aug;54(2) Epub 2019 Aug 1 doi: 10.1183/13993003.00651-2019. PMID: 31073084
Martínez-González MA, Salas-Salvadó J, Estruch R, Corella D, Fitó M, Ros E; PREDIMED INVESTIGATORS
Prog Cardiovasc Dis 2015 Jul-Aug;58(1):50-60. Epub 2015 May 1 doi: 10.1016/j.pcad.2015.04.003. PMID: 25940230
Chung KF, Wenzel SE, Brozek JL, Bush A, Castro M, Sterk PJ, Adcock IM, Bateman ED, Bel EH, Bleecker ER, Boulet LP, Brightling C, Chanez P, Dahlen SE, Djukanovic R, Frey U, Gaga M, Gibson P, Hamid Q, Jajour NN, Mauad T, Sorkness RL, Teague WG
Eur Respir J 2014 Feb;43(2):343-73. Epub 2013 Dec 12 doi: 10.1183/09031936.00202013. PMID: 24337046
Tchkonia T, Zhu Y, van Deursen J, Campisi J, Kirkland JL
J Clin Invest 2013 Mar;123(3):966-72. Epub 2013 Mar 1 doi: 10.1172/JCI64098. PMID: 23454759Free PMC Article
Amarenco P, Bogousslavsky J, Caplan LR, Donnan GA, Hennerici MG
Cerebrovasc Dis 2009;27(5):493-501. Epub 2009 Apr 3 doi: 10.1159/000210432. PMID: 19342825

Prognosis

Trivedi PJ, Hirschfield GM
Gut 2021 Oct;70(10):1989-2003. Epub 2021 Jul 15 doi: 10.1136/gutjnl-2020-322362. PMID: 34266966
Jackson HW, Fischer JR, Zanotelli VRT, Ali HR, Mechera R, Soysal SD, Moch H, Muenst S, Varga Z, Weber WP, Bodenmiller B
Nature 2020 Feb;578(7796):615-620. Epub 2020 Jan 20 doi: 10.1038/s41586-019-1876-x. PMID: 31959985
Symonds JD, Zuberi SM, Stewart K, McLellan A, O'Regan M, MacLeod S, Jollands A, Joss S, Kirkpatrick M, Brunklaus A, Pilz DT, Shetty J, Dorris L, Abu-Arafeh I, Andrew J, Brink P, Callaghan M, Cruden J, Diver LA, Findlay C, Gardiner S, Grattan R, Lang B, MacDonnell J, McKnight J, Morrison CA, Nairn L, Slean MM, Stephen E, Webb A, Vincent A, Wilson M
Brain 2019 Aug 1;142(8):2303-2318. doi: 10.1093/brain/awz195. PMID: 31302675Free PMC Article
Liu Z, Kuo PL, Horvath S, Crimmins E, Ferrucci L, Levine M
PLoS Med 2018 Dec;15(12):e1002718. Epub 2018 Dec 31 doi: 10.1371/journal.pmed.1002718. PMID: 30596641Free PMC Article
Zinchuk AV, Gentry MJ, Concato J, Yaggi HK
Sleep Med Rev 2017 Oct;35:113-123. Epub 2016 Oct 12 doi: 10.1016/j.smrv.2016.10.002. PMID: 27815038Free PMC Article

Clinical prediction guides

Alexander Y, Osto E, Schmidt-Trucksäss A, Shechter M, Trifunovic D, Duncker DJ, Aboyans V, Bäck M, Badimon L, Cosentino F, De Carlo M, Dorobantu M, Harrison DG, Guzik TJ, Hoefer I, Morris PD, Norata GD, Suades R, Taddei S, Vilahur G, Waltenberger J, Weber C, Wilkinson F, Bochaton-Piallat ML, Evans PC
Cardiovasc Res 2021 Jan 1;117(1):29-42. doi: 10.1093/cvr/cvaa085. PMID: 32282914Free PMC Article
Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM
Pediatr Res 2020 Mar;87(4):735-739. Epub 2019 Oct 16 doi: 10.1038/s41390-019-0611-5. PMID: 31618753Free PMC Article
Obokata M, Reddy YNV, Borlaug BA
JACC Cardiovasc Imaging 2020 Jan;13(1 Pt 2):245-257. Epub 2019 Jun 12 doi: 10.1016/j.jcmg.2018.12.034. PMID: 31202759Free PMC Article
Igo RP Jr, Kinzy TG, Cooke Bailey JN
Curr Protoc Hum Genet 2019 Dec;104(1):e95. doi: 10.1002/cphg.95. PMID: 31765077Free PMC Article
Bos JM, Will ML, Gersh BJ, Kruisselbrink TM, Ommen SR, Ackerman MJ
Mayo Clin Proc 2014 Jun;89(6):727-37. Epub 2014 May 1 doi: 10.1016/j.mayocp.2014.01.025. PMID: 24793961Free PMC Article

Recent systematic reviews

Parellada M, Andreu-Bernabeu Á, Burdeus M, San José Cáceres A, Urbiola E, Carpenter LL, Kraguljac NV, McDonald WM, Nemeroff CB, Rodriguez CI, Widge AS, State MW, Sanders SJ
Am J Psychiatry 2023 Jan 1;180(1):23-40. Epub 2022 Dec 7 doi: 10.1176/appi.ajp.21100992. PMID: 36475375Free PMC Article
Barootchi S, Tavelli L, Zucchelli G, Giannobile WV, Wang HL
J Periodontol 2020 Nov;91(11):1386-1399. Epub 2020 Jun 12 doi: 10.1002/JPER.19-0715. PMID: 32392401
Bozdag G, Mumusoglu S, Zengin D, Karabulut E, Yildiz BO
Hum Reprod 2016 Dec;31(12):2841-2855. Epub 2016 Sep 22 doi: 10.1093/humrep/dew218. PMID: 27664216
Kalincik T
Neuroepidemiology 2015;44(4):199-214. Epub 2015 May 20 doi: 10.1159/000382130. PMID: 25997994
Maron BJ
JAMA 2002 Mar 13;287(10):1308-20. doi: 10.1001/jama.287.10.1308. PMID: 11886323

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