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Factor D.
Sekine H, Machida T, Fujita T. Sekine H, et al. Immunol Rev. 2023 Jan;313(1):15-24. doi: 10.1111/imr.13155. Epub 2022 Oct 31. Immunol Rev. 2023. PMID: 36316810 Review.
Recently, a serendipitous discovery in the mechanism of FD activation has been provided by a generation of Masp1 gene knockout mice lacking both the serine protease MASP-1 and its alternative splicing variant MASP-3, designated MASP-1/3-deficient mice. Sera from the …
Recently, a serendipitous discovery in the mechanism of FD activation has been provided by a generation of Masp1 gene knockout mice lacking …
Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.
Gajek G, Świerzko AS, Cedzyński M. Gajek G, et al. Int J Mol Sci. 2020 Jul 31;21(15):5483. doi: 10.3390/ijms21155483. Int J Mol Sci. 2020. PMID: 32751929 Free PMC article. Review.
The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in the MASP1/3, COLEC1,1 or COLEC10 genes. ...To date, 16 mutations in MASP-1/3, 12 mutations in COLEC11 and three in …
The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with m …
A journey through the lectin pathway of complement-MBL and beyond.
Garred P, Genster N, Pilely K, Bayarri-Olmos R, Rosbjerg A, Ma YJ, Skjoedt MO. Garred P, et al. Immunol Rev. 2016 Nov;274(1):74-97. doi: 10.1111/imr.12468. Immunol Rev. 2016. PMID: 27782323 Review.
A common feature of these molecules is their ability to interact with a set of serine proteases named MASPs (MASP-1, MASP-2, and MASP-3). MASP-1 and -2 trigger the activation of the lectin pathway and MASP-3 may be involved in the activation of the alternative pathw …
A common feature of these molecules is their ability to interact with a set of serine proteases named MASPs (MASP-1, MASP-2, and MASP-3 …
Disease-causing mutations in genes of the complement system.
Degn SE, Jensenius JC, Thiel S. Degn SE, et al. Am J Hum Genet. 2011 Jun 10;88(6):689-705. doi: 10.1016/j.ajhg.2011.05.011. Am J Hum Genet. 2011. PMID: 21664996 Free PMC article. Review.
Recent studies have described roles outside complement and immunity of another MBL-associated serine protease, MASP-3, in the etiology of 3MC syndrome, an autosomal-recessive disorder involving a spectrum of developmental features, including characteristic fa …
Recent studies have described roles outside complement and immunity of another MBL-associated serine protease, MASP-3, in the etiolog …
The collectins CL-L1, CL-K1 and CL-P1, and their roles in complement and innate immunity.
Hansen SW, Ohtani K, Roy N, Wakamiya N. Hansen SW, et al. Immunobiology. 2016 Oct;221(10):1058-67. doi: 10.1016/j.imbio.2016.05.012. Epub 2016 Jun 2. Immunobiology. 2016. PMID: 27377710 Review.
The recent establishment of the existence of CL-K1 in the circulation in form of heteromeric complexes with CL-L1 (known as CL-LK) and its activation of the lectin pathway via MASPs, drew new attention in the complement biology, which was further strengthened by the observed inte …
The recent establishment of the existence of CL-K1 in the circulation in form of heteromeric complexes with CL-L1 (known as CL-LK) and its a …
Structure and function of collectin liver 1 (CL-L1) and collectin 11 (CL-11, CL-K1).
Selman L, Hansen S. Selman L, et al. Immunobiology. 2012 Sep;217(9):851-63. doi: 10.1016/j.imbio.2011.12.008. Epub 2012 Feb 4. Immunobiology. 2012. PMID: 22475410 Free article. Review.
Polymorphisms in the CL-11 gene (COLEC11) leading to deficiencies have recently been identified as causative for 3MC syndrome. The 3MC syndrome is associated with a wide spectrum of developmental features including facial dysmorphism, cognitive impairm …
Polymorphisms in the CL-11 gene (COLEC11) leading to deficiencies have recently been identified as causative for 3MC syndrome. …
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A. Titomanlio L, et al. Am J Med Genet A. 2005 Sep 1;137A(3):332-5. doi: 10.1002/ajmg.a.30878. Am J Med Genet A. 2005. PMID: 16096999 Review.
We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and mental deficiency. ...Those similarities lead us t …
We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, pt …