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Abnormal platelet membrane protein expression

MedGen UID:
868746
Concept ID:
C4023151
Anatomical Abnormality
HPO: HP:0011878

Definition

Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry. [from HPO]

Professional guidelines

PubMed

Walsh SW, Strauss JF 3rd
Am J Obstet Gynecol 2022 Feb;226(2S):S945-S953. doi: 10.1016/j.ajog.2021.11.1367. PMID: 35177224Free PMC Article
Sanchez-Contreras M, Baker MC, Finch NA, Nicholson A, Wojtas A, Wszolek ZK, Ross OA, Dickson DW, Rademakers R
Hum Mutat 2014 Aug;35(8):964-71. Epub 2014 Jun 3 doi: 10.1002/humu.22582. PMID: 24796542Free PMC Article
Tefferi A
Am J Hematol 2013 Feb;88(2):141-50. doi: 10.1002/ajh.23384. PMID: 23349007

Recent clinical studies

Etiology

Bersell KR, Yang T, Mosley JD, Glazer AM, Hale AT, Kryshtal DO, Kim K, Steimle JD, Brown JD, Salem JE, Campbell CC, Hong CC, Wells QS, Johnson AN, Short L, Blair MA, Behr ER, Petropoulou E, Jamshidi Y, Benson MD, Keyes MJ, Ngo D, Vasan RS, Yang Q, Gerszten RE, Shaffer C, Parikh S, Sheng Q, Kannankeril PJ, Moskowitz IP, York JD, Wang TJ, Knollmann BC, Roden DM
Circulation 2023 Mar 7;147(10):824-840. Epub 2022 Dec 16 doi: 10.1161/CIRCULATIONAHA.122.062193. PMID: 36524479Free PMC Article
Kozumi K, Kodama T, Murai H, Sakane S, Govaere O, Cockell S, Motooka D, Kakita N, Yamada Y, Kondo Y, Tahata Y, Yamada R, Hikita H, Sakamori R, Kamada Y, Daly AK, Anstee QM, Tatsumi T, Morii E, Takehara T
Hepatology 2021 Nov;74(5):2452-2466. Epub 2021 Aug 21 doi: 10.1002/hep.31995. PMID: 34105780Free PMC Article
Duttaroy AK
Nutrients 2021 Jan 3;13(1) doi: 10.3390/nu13010144. PMID: 33401598Free PMC Article
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Zhang Y, Zhang S, Ding Z
Adv Exp Med Biol 2017;906:307-324. doi: 10.1007/5584_2016_123. PMID: 27628007

Diagnosis

Kozumi K, Kodama T, Murai H, Sakane S, Govaere O, Cockell S, Motooka D, Kakita N, Yamada Y, Kondo Y, Tahata Y, Yamada R, Hikita H, Sakamori R, Kamada Y, Daly AK, Anstee QM, Tatsumi T, Morii E, Takehara T
Hepatology 2021 Nov;74(5):2452-2466. Epub 2021 Aug 21 doi: 10.1002/hep.31995. PMID: 34105780Free PMC Article
Botero JP, Lee K, Branchford BR, Bray PF, Freson K, Lambert MP, Luo M, Mohan S, Ross JE, Bergmeier W, Di Paola J; ClinGen Platelet Disorder Variant Curation Expert Panel
Haematologica 2020 Apr;105(4):888-894. Epub 2020 Mar 5 doi: 10.3324/haematol.2018.214239. PMID: 32139434Free PMC Article
Mundell SJ, Mumford A
Platelets 2018 Nov;29(7):739-742. Epub 2018 Aug 8 doi: 10.1080/09537104.2018.1499888. PMID: 30089223Free PMC Article
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Macdonald D, Cross NC
Pathobiology 2007;74(2):81-8. doi: 10.1159/000101707. PMID: 17587879

Therapy

Gobbo F, Martelli F, Di Virgilio A, Demaria E, Sarli G, Migliaccio AR
Int J Mol Sci 2024 Jul 13;25(14) doi: 10.3390/ijms25147703. PMID: 39062946Free PMC Article
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Zhang Y, Zhang S, Ding Z
Adv Exp Med Biol 2017;906:307-324. doi: 10.1007/5584_2016_123. PMID: 27628007
Hellberg C, Ostman A, Heldin CH
Recent Results Cancer Res 2010;180:103-14. doi: 10.1007/978-3-540-78281-0_7. PMID: 20033380
Mellado B, Gascón P
Clin Transl Oncol 2006 Oct;8(10):706-10. doi: 10.1007/s12094-006-0116-7. PMID: 17074668

Prognosis

Li L, Yu S, Liu S, Meng F, Ren X, Liu Z, Fu R
J Clin Lab Anal 2022 Jan;36(1):e24145. Epub 2021 Dec 21 doi: 10.1002/jcla.24145. PMID: 34935195Free PMC Article
Kozumi K, Kodama T, Murai H, Sakane S, Govaere O, Cockell S, Motooka D, Kakita N, Yamada Y, Kondo Y, Tahata Y, Yamada R, Hikita H, Sakamori R, Kamada Y, Daly AK, Anstee QM, Tatsumi T, Morii E, Takehara T
Hepatology 2021 Nov;74(5):2452-2466. Epub 2021 Aug 21 doi: 10.1002/hep.31995. PMID: 34105780Free PMC Article
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Verhaak RG, Hoadley KA, Purdom E, Wang V, Qi Y, Wilkerson MD, Miller CR, Ding L, Golub T, Mesirov JP, Alexe G, Lawrence M, O'Kelly M, Tamayo P, Weir BA, Gabriel S, Winckler W, Gupta S, Jakkula L, Feiler HS, Hodgson JG, James CD, Sarkaria JN, Brennan C, Kahn A, Spellman PT, Wilson RK, Speed TP, Gray JW, Meyerson M, Getz G, Perou CM, Hayes DN; Cancer Genome Atlas Research Network
Cancer Cell 2010 Jan 19;17(1):98-110. doi: 10.1016/j.ccr.2009.12.020. PMID: 20129251Free PMC Article
Nand S, Messmore H
Am J Hematol 1990 Sep;35(1):45-55. doi: 10.1002/ajh.2830350111. PMID: 2202206

Clinical prediction guides

Guan Y, Enejder A, Wang M, Fang Z, Cui L, Chen SY, Wang J, Tan Y, Wu M, Chen X, Johansson PK, Osman I, Kunimoto K, Russo P, Heilshorn SC, Peltz G
Nat Commun 2021 Oct 22;12(1):6138. doi: 10.1038/s41467-021-26410-9. PMID: 34686668Free PMC Article
Kozumi K, Kodama T, Murai H, Sakane S, Govaere O, Cockell S, Motooka D, Kakita N, Yamada Y, Kondo Y, Tahata Y, Yamada R, Hikita H, Sakamori R, Kamada Y, Daly AK, Anstee QM, Tatsumi T, Morii E, Takehara T
Hepatology 2021 Nov;74(5):2452-2466. Epub 2021 Aug 21 doi: 10.1002/hep.31995. PMID: 34105780Free PMC Article
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Macdonald D, Cross NC
Pathobiology 2007;74(2):81-8. doi: 10.1159/000101707. PMID: 17587879
Nand S, Messmore H
Am J Hematol 1990 Sep;35(1):45-55. doi: 10.1002/ajh.2830350111. PMID: 2202206

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