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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.
Sera from the MASP-1/3-deficient mice had little-to-no lectin pathway (LP) and AP activity with circulating zymogen or proenzyme FD (pro-FD). Sera from patients with 3MC syndrome carrying mutations in the MASP1 gene also had circulating pro-FD, suggesting that MASP- …
Sera from the MASP-1/3-deficient mice had little-to-no lectin pathway (LP) and AP activity with circulating zymogen or proenzyme FD (pro-FD) …
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. ...This is supported by relationships between MASP1/3, COLEC10, and COLEC11 gene mutatio …
The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with m …
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.
Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge-shaped diastasis around the umbilicus. ...Those similarities lead us to postulate that they belong to the same spectrum, which c …
Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, …
'A child with Malpuech-Michels-Mingarelli-Carnevale syndrome and ADHD and major depressive disorder'.
Aygün B, Gülcü Üstün NS. Aygün B, et al. Psychiatr Genet. 2023 Aug 1;33(4):164-B2. doi: 10.1097/YPG.0000000000000348. Epub 2023 Jun 16. Psychiatr Genet. 2023. PMID: 37463393
The prominent causes of 3MC syndrome include homozygous mutations in the MASP1, COLEC10, or COLEC11 genes. Few cases with 3MC syndrome have been reported in the literature. Here we present a case of 11-year-old girl with 3 MC syndrome in comorbidity wi …
The prominent causes of 3MC syndrome include homozygous mutations in the MASP1, COLEC10, or COLEC11 genes. Few cases with 3 …
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
We consolidate and expand current knowledge of phenotypic features and molecular diagnosis of 3MC syndrome by describing the clinical and molecular findings in five patients. ...Our study contributes to the evolving clinical and molecular spectrum of 3MC s …
We consolidate and expand current knowledge of phenotypic features and molecular diagnosis of 3MC syndrome by describing the c …
A novel COLEC10 mutation in a child with 3MC syndrome.
Migliorero M, Kalantari S, Bracciamà V, Sorbini M, Arruga F, Peruzzi L, Biamino E, Amoroso A, Vaisitti T, Deaglio S. Migliorero M, et al. Eur J Med Genet. 2021 Dec;64(12):104374. doi: 10.1016/j.ejmg.2021.104374. Epub 2021 Nov 2. Eur J Med Genet. 2021. PMID: 34740859
3MC syndrome is an autosomal recessive disorder encompassing four rare disorders previously known as the Malpuech, Michels, Mingarelli and Carnevale syndromes. ...More recently, mutations in COLEC10, a third gene coding for collectin CL-L1, were identified in a limi …
3MC syndrome is an autosomal recessive disorder encompassing four rare disorders previously known as the Malpuech, Michels, Mi …
The x-ray crystal structure of mannose-binding lectin-associated serine proteinase-3 reveals the structural basis for enzyme inactivity associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome.
Yongqing T, Wilmann PG, Reeve SB, Coetzer TH, Smith AI, Whisstock JC, Pike RN, Wijeyewickrema LC. Yongqing T, et al. J Biol Chem. 2013 Aug 2;288(31):22399-407. doi: 10.1074/jbc.M113.483875. Epub 2013 Jun 21. J Biol Chem. 2013. PMID: 23792966 Free PMC article.
Mutations in MASP-3 have recently been found to be associated with Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome, a severe developmental disorder manifested by cleft palate, intellectual disability, and skeletal abnormalities. ...Together, these insigh …
Mutations in MASP-3 have recently been found to be associated with Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome …
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
Urquhart J, Roberts R, de Silva D, Shalev S, Chervinsky E, Nampoothiri S, Sznajer Y, Revencu N, Gunasekera R, Suri M, Ellingford J, Williams S, Bhaskar S, Clayton-Smith J. Urquhart J, et al. Am J Med Genet A. 2016 May;170A(5):1216-24. doi: 10.1002/ajmg.a.37564. Epub 2016 Jan 20. Am J Med Genet A. 2016. PMID: 26789649
We describe the clinical and molecular findings in 13 individuals with suspected 3MC syndrome from 12 previously unreported families. The exclusion of the MASP1 and COLEC11 Loci in two individuals from different consanguineous families and the absence of mutations i …
We describe the clinical and molecular findings in 13 individuals with suspected 3MC syndrome from 12 previously unreported fa …
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, Jenkins D, Morton J, Hansen SW, Bacchelli C, Beales PL, Hernandez-Hernandez V. Munye MM, et al. PLoS Genet. 2017 Mar 16;13(3):e1006679. doi: 10.1371/journal.pgen.1006679. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28301481 Free PMC article.
3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. ...We previously reported that lectin complement pathway genes COLEC11 and MASP1/3 are mutated in 3MC syndrome patients. Here we define a …
3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. ...We previ …
Malpuech syndrome: three patients and a review.
Kerstjens-Frederikse WS, Brunner HG, van Dael CM, van Essen AJ. Kerstjens-Frederikse WS, et al. Am J Med Genet A. 2005 May 1;134(4):450-3. doi: 10.1002/ajmg.a.30662. Am J Med Genet A. 2005. PMID: 15793834 Review.
We describe three patients with Malpuech syndrome from two families. Previously, 10 patients from 6 families have been reported. ...We discuss differential diagnosis and possible candidate genes and propose diagnostic criteria for Malpuech syndrome....
We describe three patients with Malpuech syndrome from two families. Previously, 10 patients from 6 families have been reporte …
43 results