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Select item 102480531.

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

Abstract Article PDF–4.3M

Select item 3724582.

Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family.

J M Delâge, P Bergeron, J Simard, G Lehner-Netsch, E Prochazka

J Clin Invest. 1977 Nov; 60(5): 1061–1069. doi: 10.1172/JCI108857

PMCID:: PMC372458

Summary Page Browse PDF–1.3M

Select item 14563373.

How partial C7 deficiency with chronic and recurrent bacterial infections can mimic total C7 deficiency: temporary restoration of host C7 levels following plasma transfusion.

R Würzner, A E Platonov, V B Beloborodov, A I Pereverzev, I V Vershinina, B A Fernie, M J Hobart, P J Lachmann, A Orren

Immunology. 1996 Jul; 88(3): 407–411. doi: 10.1046/j.1365-2567.1996.d01-663.x

PMCID:: PMC1456337

Summary Page Browse PDF–976K

Select item 17822904.

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

Abstract Article PDF–239K

Select item 17825965.

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

Abstract Article PDF–200K

Select item 18087606.

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

Abstract Article PDF–183K

Select item 19051227.

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

Abstract Article PDF–244K

Select item 28085958.

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

Abstract Article PDF–117K

Select item 39893849.

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

Abstract Article PDF–1.3M

Select item 227152810.

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

Summary Page Browse PDF–1.1M

Select item 802133611.

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

Abstract Article PDF–379K

Select item 155446012.

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

Summary Page Browse PDF–982K

Select item 155433513.

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

Summary Page Browse PDF–1.0M

Select item 966699614.

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