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Quoted phrase not found in phrase index: "3MC syndrome 1"
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3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.
Ashton CJ, Perveen R, Beaman G, Crisponi G, González-Del Angel A, Garza-Mayén G, Alcántara-Ortigoza MA, O'Sullivan J, Clayton-Smith J. Ashton CJ, et al. Clin Dysmorphol. 2023 Jan 1;32(1):7-13. doi: 10.1097/MCD.0000000000000443. Epub 2022 Nov 28. Clin Dysmorphol. 2023. PMID: 36503917
The 3MC syndromes types 1-3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes encoding the lectin complement pathway. ...Our study contributes to the evolving clinical and molec …
The 3MC syndromes types 1-3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorder …
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.
Rabin R, Hirsch Y, Chung WK, Ekstein J, Levy-Lahad E, Zuckerman S, Mor-Shaked H, Meiner V, Booth KT, Pappas J. Rabin R, et al. Am J Med Genet A. 2022 Oct;188(10):3110-3117. doi: 10.1002/ajmg.a.62943. Epub 2022 Aug 9. Am J Med Genet A. 2022. PMID: 35943032
More recently, bi-allelic variants in COLEC10 have been described to be associated with 3MC syndrome. Syndromic features seen in 3MC syndrome are thought to be due to disruption of the chemoattractant properties that influence neural crest cell …
More recently, bi-allelic variants in COLEC10 have been described to be associated with 3MC syndrome. Syndromic feature …
An enzyme-linked immunosorbent assay (ELISA) for quantification of human collectin 11 (CL-11, CL-K1).
Selman L, Henriksen ML, Brandt J, Palarasah Y, Waters A, Beales PL, Holmskov U, Jørgensen TJ, Nielsen C, Skjodt K, Hansen S. Selman L, et al. J Immunol Methods. 2012 Jan 31;375(1-2):182-8. doi: 10.1016/j.jim.2011.10.010. Epub 2011 Oct 20. J Immunol Methods. 2012. PMID: 22301270 Free PMC article.
It interacts with glycoconjugates on pathogen surfaces and has been found in complex with mannose-binding lectin-associated serine protease 1 (MASP-1) and/or MASP-3 in circulation. Mutation in the CL-11 gene was recently associated with the developmental syndrome …
It interacts with glycoconjugates on pathogen surfaces and has been found in complex with mannose-binding lectin-associated serine protease …