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Items: 1 to 20 of 28

1.
The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up
Sally Mahgoub Khalil, Sami Aqel, Dalal Sideeg Mudawi, Hassan Mobayed, Maryam Ali Al-Nesf
Front Immunol. 2023; 14: 1253301. Published online 2023 Oct 11. doi: 10.3389/fimmu.2023.1253301
PMCID:
PMC10598862
AbstractArticlePDF–372K
2.
Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity
Andrea Balduit, Anna Monica Bianco, Alessandro Mangogna, Anna Maria Zicari, Lucia Leonardi, Bianca Laura Cinicola, Martina Capponi, Alberto Tommasini, Chiara Agostinis, Adamo Pio d’Adamo, Roberta Bulla
Front Immunol. 2023; 14: 1192690. Published online 2023 May 25. doi: 10.3389/fimmu.2023.1192690
PMCID:
PMC10248053
AbstractArticlePDF–4.3M
3.
ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation
Adam Sheriff, Ina Guri, Paulina Zebrowska, Virginia Llopis-Hernandez, Imogen R. Brooks, Stavroula Tekkela, Kavita Subramaniam, Ruta Gebrezgabher, Gaetano Naso, Anastasia Petrova, Katarzyna Balon, Alexandros Onoufriadis, Dorota Kujawa, Martyna Kotulska, Gregory Newby, Łukasz Łaczmański, David R. Liu, John A. McGrath, Joanna Jacków
Sci Rep. 2022; 12: 19643. Published online 2022 Nov 16. doi: 10.1038/s41598-022-24184-8
PMCID:
PMC9666996
AbstractArticlePDF–2.7M
4.
Pan-Cancer Bioinformatics Analysis of Gene UBE2C
Lin Yuan, Zhenyu Yang, Jing Zhao, Tao Sun, Chunyu Hu, Zhen Shen, Guanying Yu
Front Genet. 2022; 13: 893358. Published online 2022 Apr 27. doi: 10.3389/fgene.2022.893358
PMCID:
PMC9091452
AbstractArticlePDF–4.8M
5.
Disseminated gonococcal infection in a Japanese man with complement 7 deficiency with compound heterozygous variants: A case report
Misaki Kageyama, Hideharu Hagiya, Yasutaka Ueda, Katsuki Ohtani, Yasuo Fukumori, Norimitsu Inoue, Nobutaka Wakamiya, Nanoka Yoneda, Keigo Kimura, Motonori Nagasawa, Futoshi Nakagami, Isao Nishi, Ken Sugimoto, Hiromi Rakugi
Medicine (Baltimore) 2021 Apr 2; 100(13): e25265. Published online 2021 Apr 2. doi: 10.1097/MD.0000000000025265
PMCID:
PMC8021336
AbstractArticlePDF–379K
6.
Continuous infusion of recombinant activated factor VII: a review of data in congenital hemophilia with inhibitors and congenital factor VII deficiency
Madhvi Rajpurkar, David L Cooper
J Blood Med. 2018; 9: 227–239. Published online 2018 Nov 29. doi: 10.2147/JBM.S184040
PMCID:
PMC6276614
AbstractArticlePDF–233K
7.
Complement genetics, deficiencies, and disease associations
Karine R. Mayilyan
Protein Cell. 2012 Jul; 3(7): 487–496. Published online 2012 Jul 10. doi: 10.1007/s13238-012-2924-6
PMCID:
PMC4875391
AbstractArticlePDF–618K
8.
Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa
Jakub Tolar, John A. McGrath, Lily Xia, Megan Riddle, Chris J. Lees, Cindy Eide, Douglas R. Keene, Lu Liu, Mark J. Osborn, Troy C. Lund, Bruce R. Blazar, John E. Wagner
J Invest Dermatol. Author manuscript; available in PMC 2014 Nov 1.
Published in final edited form as: J Invest Dermatol. 2014 May; 134(5): 1246–1254. Published online 2013 Dec 6. doi: 10.1038/jid.2013.523
PMCID:
PMC3989384
AbstractArticlePDF–1.3M
9.
A Case of Meningococcal Sepsis and Meningitis with Complement 7 Deficiency in a Military Trainee
Sung Hoon Sim, Jung Yeon Heo, Eui-Chong Kim, Kang-Won Choe
Infect Chemother. 2013 Mar; 45(1): 94–98. Published online 2013 Mar 29. doi: 10.3947/ic.2013.45.1.94
PMCID:
PMC3780931
AbstractArticlePDF–706K
10.
Complement Factor C7 Contributes to Lung Immunopathology Caused by Mycobacterium tuberculosis
Kerry J. Welsh, Cole T. Lewis, Sydney Boyd, Michael C. Braun, Jeffrey K. Actor
Clin Dev Immunol. 2012; 2012: 429675. Published online 2012 Jul 30. doi: 10.1155/2012/429675
PMCID:
PMC3438787
AbstractArticlePDF–2.6M
11.
Two Novel Mutations in the C7 gene in a Korean Patient with Complement C7 Deficiency
Chang-Seok Ki, Jong-Won Kim, Hee-Jin Kim, Sung-Min Choi, Gyoung-Yim Ha, Hee Jung Kang, Won-Duck Kim
J Korean Med Sci. 2005 Apr; 20(2): 220–224. Published online 2005 Apr 30. doi: 10.3346/jkms.2005.20.2.220
PMCID:
PMC2808595
AbstractArticlePDF–117K
12.
Hereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an Irish family using a novel haemolytic screening assay for complement activity and C7 M/N allotyping.
L. J. Egan, A. Orren, J. Doherty, R. Würzner, C. F. McCarthy
Epidemiol Infect. 1994 Oct; 113(2): 275–281. doi: 10.1017/s0950268800051700
PMCID:
PMC2271528
SummaryPage BrowsePDF–1.1M
13.
C7 deficiency in an Irish family: a deletion defect which is predominant in the Irish
A M O'HARA, B A FERNIE, A P MORAN, Y E WILLIAMS, J J CONNAUGHTON, A ORREN, M J HOBART
Clin Exp Immunol. 1998 Dec; 114(3): 355–361. doi: 10.1046/j.1365-2249.1998.00737.x
PMCID:
PMC1905122
AbstractArticlePDF–244K
14.
Complement component C7 deficiency in a Spanish family
M F VÁZQUEZ-BERMÚDEZ, S BARROSO, K WALTER, A J ÁLVAREZ, A ALARCÓN, M LÓPEZ-TRASCASA, I WICHMANN, F AGUILAR, A NÚÑEZ-ROLDáN, B SÁNCHEZ
Clin Exp Immunol. 2003 Aug; 133(2): 240–246. doi: 10.1046/j.1365-2249.2003.02186.x
PMCID:
PMC1808760
AbstractArticlePDF–183K
15.
Complement component C7 deficiency in two Spanish families
Sonia Barroso, Berta Sánchez, Antonia José Álvarez, Margarita López-Trascasa, Amparo Lanuza, Rafael Luque, Ingeborg Wichmann, Antonio Núñez-Roldán
Immunology. 2004 Dec; 113(4): 518–523. doi: 10.1111/j.1365-2567.2004.01997.x
PMCID:
PMC1782596
AbstractArticlePDF–200K
16.
Molecular defects of the C7 gene in two patients with complement C7 deficiency
Sonia Barroso, Claudine Rieubland, Antonia JoséÁlvarez, Margarita López-Trascasa, Pierre-Alexandre Bart, Antonio Núñez-Roldán, Berta Sánchez
Immunology. 2006 Jun; 118(2): 257–260. doi: 10.1111/j.1365-2567.2006.02364.x
PMCID:
PMC1782290
AbstractArticlePDF–239K
17.
C7 M/N protein polymorphism typing applied to inherited deficiencies of human complement proteins C6 and C7.
R Würzner, N Rance, P C Potter, M L Hendricks, P J Lachmann, A Orren
Clin Exp Immunol. 1992 Sep; 89(3): 485–489. doi: 10.1111/j.1365-2249.1992.tb06985.x
PMCID:
PMC1554460
SummaryPage BrowsePDF–982K
18.
Combined total deficiency of C7 and C4B with systemic lupus erythematosus (SLE).
O G Segurado, A A Arnaiz-Villena, P Iglesias-Casarrubios, J Martinez-Laso, J L Vicario, G Fontan, M Lopez-Trascasa
Clin Exp Immunol. 1992 Mar; 87(3): 410–414. doi: 10.1111/j.1365-2249.1992.tb03011.x
PMCID:
PMC1554335
SummaryPage BrowsePDF–1.0M
19.
Combined familial C7 and C4B deficiency in an adult with meningococcal disease.
H M Chapel, T E Peto, G A Luzzi, R A Thompson, A H Fielder, J R Batchelor
Clin Exp Immunol. 1987 Jan; 67(1): 55–58.
PMCID:
PMC1542554
SummaryPage BrowsePDF–459K
20.
A case of hereditary combined deficiency of complement components C6 and C7 in man.
B P Morgan, J P Vora, A J Bennett, J P Thomas, N Matthews
Clin Exp Immunol. 1989 Mar; 75(3): 396–401.
PMCID:
PMC1541941
SummaryPage BrowsePDF–1.2M

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