Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).
C1-inhibitor deficiency
functional variants
genetic biomarkers
hereditary angioedema
long-term prophylaxis
next-generation sequencing
severity score
Journal
Frontiers in allergy
ISSN: 2673-6101
Titre abrégé: Front Allergy
Pays: Switzerland
ID NLM: 9918227355906676
Informations de publication
Date de publication:
2022
2022
Historique:
received:
02
02
2022
accepted:
15
03
2022
entrez:
25
7
2022
pubmed:
26
7
2022
medline:
26
7
2022
Statut:
epublish
Résumé
Existing evidence indicates that modifier genes could change the phenotypic outcome of the causal
Identifiants
pubmed: 35873600
doi: 10.3389/falgy.2022.868185
pmc: PMC9300820
doi:
Types de publication
Journal Article
Langues
eng
Pagination
868185Informations de copyright
Copyright © 2022 Parsopoulou, Loules, Zamanakou, Csuka, Szilagyi, Kompoti, Porebski, Psarros, Magerl, Valerieva, Staevska, Obtulowicz, Maurer, Speletas, Farkas and Germenis.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
J Biol Chem. 1989 Jun 25;264(18):10477-86
pubmed: 2567291
Blood Coagul Fibrinolysis. 2005 Jan;16(1):79-84
pubmed: 15650551
J Med Genet. 2003 Oct;40(10):e114
pubmed: 14569137
Mol Immunol. 2008 Aug;45(13):3536-44
pubmed: 18586324
Hum Genet. 1992 Jan;88(3):313-9
pubmed: 1370808
Eur Respir J. 2005 Jul;26(1):67-76
pubmed: 15994391
J Clin Med. 2020 Oct 23;9(11):
pubmed: 33114181
Hum Mutat. 2003 Dec;22(6):498
pubmed: 14635117
Nat Genet. 2001 Aug;28(4):389-92
pubmed: 11443298
Biochim Biophys Acta. 1996 Mar 7;1293(1):83-9
pubmed: 8652631
J Hum Genet. 2003;48(1):20-2
pubmed: 12560874
Am J Alzheimers Dis Other Demen. 2013 Aug;28(5):517-23
pubmed: 23813610
Protein Sci. 2004 Mar;13(3):694-702
pubmed: 14767073
Ther Adv Respir Dis. 2012 Oct;6(5):277-95
pubmed: 22933512
Cell Mol Immunol. 2015 Jan;12(1):119-21
pubmed: 24658431
J Biol Chem. 2012 Nov 2;287(45):38327-37
pubmed: 22992740
Int Arch Allergy Immunol. 2017;174(3-4):200-204
pubmed: 29130992
Hum Mutat. 2002 Nov;20(5):405-6
pubmed: 12402344
Trends Genet. 1989 Dec;5(12):411-7
pubmed: 2696185
J Thromb Haemost. 2005 Nov;3(11):2487-96
pubmed: 16241947
Thromb Haemost. 2007 Apr;97(4):635-41
pubmed: 17393027
Br J Hosp Med (Lond). 2019 Jul 2;80(7):391-398
pubmed: 31283393
Cytogenet Genome Res. 2008;121(3-4):181-8
pubmed: 18758157
Am J Hum Genet. 1996 Aug;59(2):308-19
pubmed: 8755917
Blood. 1998 Mar 15;91(6):2010-4
pubmed: 9490684
J Am Soc Nephrol. 2002 Apr;13(4):968-976
pubmed: 11912256
PLoS One. 2013;8(2):e56712
pubmed: 23437219
Ann Intern Med. 1980 Sep;93(3):443-5
pubmed: 7437116
Biochim Biophys Acta. 2005 Jun 10;1740(3):390-402
pubmed: 15949707
Lancet. 2005 Jun 25-Jul 1;365(9478):2225-36
pubmed: 15978931
Hum Mutat. 2004 May;23(5):496-505
pubmed: 15108282
Allergy. 2011 Jan;66(1):76-84
pubmed: 20804470
J Pediatr. 2002 Jun;140(6):688-92
pubmed: 12072871
Clin Exp Allergy. 2019 Nov;49(11):1395-1402
pubmed: 31574187
Gene. 2018 Aug 15;667:76-82
pubmed: 29753808
Am J Respir Cell Mol Biol. 1998 May;18(5):670-4
pubmed: 9569237
PLoS One. 2014 Sep 02;9(9):e102617
pubmed: 25181470
JAMA. 2009 Jun 17;301(23):2472-85
pubmed: 19531787
N Engl J Med. 2020 Mar 19;382(12):1136-1148
pubmed: 32187470
Chest. 1991 Sep;100(3):703-8
pubmed: 1889260
Am J Respir Cell Mol Biol. 2002 Jun;26(6):723-30
pubmed: 12034572
J Clin Invest. 2005 Mar;115(3):780-7
pubmed: 15765151
Allergy. 2020 Aug;75(8):2115-2123
pubmed: 32248571
Chest. 2013 Apr;143(4):1000-1008
pubmed: 23632999
J Allergy Clin Immunol. 2013 Jun;131(6):1708-11
pubmed: 23265861
Allergy. 2015 Dec;70(12):1661-4
pubmed: 26248961
J Clin Invest. 1987 Nov;80(5):1366-74
pubmed: 3500183
Blood. 1997 Nov 15;90(10):4126-34
pubmed: 9354683
N Engl J Med. 2003 Aug 7;349(6):554-60
pubmed: 12904520
Blood. 2000 Aug 1;96(3):988-95
pubmed: 10910914
Am Rev Respir Dis. 1990 Nov;142(5):1185-92
pubmed: 2240842
Neurogenetics. 2003 Aug;4(4):213-7
pubmed: 12898287
Blood. 2003 Jul 1;102(1):25-30
pubmed: 12456499
Clin Exp Allergy. 2019 Nov;49(11):1520-1522
pubmed: 31334892
Hum Mutat. 2006 Mar;27(3):295-6
pubmed: 16470590