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Items: 13

1.
Michels syndrome: The first case report from India and review of literature
Adedayo A Adio, Ramesh Kekunnaya, Lokesh Lingappa
Indian J Ophthalmol. 2014 Sep; 62(9): 954–958. doi: 10.4103/0301-4738.143946
PMCID:
PMC4244746
ArticlePDF–1.5M
2.
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
Tahir Atik, Asuman Koparir, Guney Bademci, Joseph Foster, II, Umut Altunoglu, Gül Yesiltepe Mutlu, Sarah Bowdin, Nursel Elcioglu, Gulsen A. Tayfun, Sevinc Sahin Atik, Mustafa Ozen, Ferda Ozkinay, Yasemin Alanay, Hulya Kayserili, Steffen Thiel, Mustafa Tekin
Orphanet J Rare Dis. 2015; 10: 128. Published online 2015 Sep 30. doi: 10.1186/s13023-015-0345-3
PMCID:
PMC4589207
ArticlePDF–1.0M
3.
Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome
Umakhanth Venkatraman Girija, Christopher M Furze, Alexandre R Gingras, Takayuki Yoshizaki, Katsuki Ohtani, Jamie E Marshall, A Katrine Wallis, Wilhelm J Schwaeble, Mohammed El-Mezgueldi, Daniel A Mitchell, Peter CE Moody, Nobutaka Wakamiya, Russell Wallis
BMC Biol. 2015; 13: 27. Published online 2015 Apr 17. doi: 10.1186/s12915-015-0136-2
PMCID:
PMC4431178
ArticlePDF–2.9M
4.
MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes
Asli Sirmaci, Tom Walsh, Hatice Akay, Michail Spiliopoulos, Yıldırım Bayezit Şakalar, Aylin Hasanefendioğlu-Bayrak, Duygu Duman, Amjad Farooq, Mary-Claire King, Mustafa Tekin
Am J Hum Genet. 2010 Nov 12; 87(5): 679–686. doi: 10.1016/j.ajhg.2010.09.018
PMCID:
PMC2978960
ArticlePDF–1000K
5.
Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3
Pouria Mohammadi, Elham Salehi Siavashani, Mohammad Farid Mohammadi, Afshin Bahramy, Navid Almadani, Masoud Garshasbi
Mol Genet Genomic Med. 2021 Nov; 9(11): e1834. Published online 2021 Oct 12. doi: 10.1002/mgg3.1834
PMCID:
PMC8606204
ArticlePDF–962K
6.
Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome
Cathleen Lawson, Karin J. Blakemore, Rebecca Ryan, Jody E. Hooper, Michael Tsimis, Angie Jelin
Am J Med Genet A. Author manuscript; available in PMC 2021 Jan 4.
Published in final edited form as: Am J Med Genet A. 2020 Jul; 182(7): 1812–1814. Published online 2020 May 22. doi: 10.1002/ajmg.a.61624
PMCID:
PMC7780158
ArticlePDF–259K
7.
Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome
Gabriela Gajek, Anna S. Świerzko, Maciej Cedzyński
Int J Mol Sci. 2020 Aug; 21(15): 5483. Published online 2020 Jul 31. doi: 10.3390/ijms21155483
PMCID:
PMC7432537
ArticlePDF–739K
8.
CL-L1 and CL-K1 Exhibit Widespread Tissue Distribution With High and Co-Localized Expression in Secretory Epithelia and Mucosa
Soren W. K. Hansen, Josephine B. Aagaard, Karen B. Bjerrum, Eva K. Hejbøl, Ole Nielsen, Henrik D. Schrøder, Karsten Skjoedt, Anna L. Sørensen, Jonas H. Graversen, Maiken L. Henriksen
Front Immunol. 2018; 9: 1757. Published online 2018 Jul 31. doi: 10.3389/fimmu.2018.01757
PMCID:
PMC6079254
ArticlePDF–7.1M
9.
COLEC10 is mutated in 3MC patients and regulates early craniofacial development
Mustafa M. Munye, Anna Diaz-Font, Louise Ocaka, Maiken L. Henriksen, Melissa Lees, Angela Brady, Dagan Jenkins, Jenny Morton, Soren W. Hansen, Chiara Bacchelli, Philip L. Beales, Victor Hernandez-Hernandez
PLoS Genet. 2017 Mar; 13(3): e1006679. Published online 2017 Mar 16. doi: 10.1371/journal.pgen.1006679
PMCID:
PMC5373641
ArticlePDF–1.5M
10.
Genetic Variation of COLEC10 and COLEC11 and Association with Serum Levels of Collectin Liver 1 (CL-L1) and Collectin Kidney 1 (CL-K1)
Rafael Bayarri-Olmos, Soren Hansen, Maiken Lumby Henriksen, Line Storm, Steffen Thiel, Peter Garred, Lea Munthe-Fog
PLoS One. 2015; 10(2): e0114883. Published online 2015 Feb 24. doi: 10.1371/journal.pone.0114883
PMCID:
PMC4339841
ArticlePDF–352K
11.
The Serine Protease Domain of MASP-3: Enzymatic Properties and Crystal Structure in Complex with Ecotin
Christine Gaboriaud, Rajesh Kumar Gupta, Lydie Martin, Monique Lacroix, Laurence Serre, Florence Teillet, Gérard J. Arlaud, Véronique Rossi, Nicole M. Thielens
PLoS One. 2013; 8(7): e67962. Published online 2013 Jul 4. doi: 10.1371/journal.pone.0067962
PMCID:
PMC3701661
ArticlePDF–3.5M
12.
Disease-Causing Mutations in Genes of the Complement System
Søren E. Degn, Jens C. Jensenius, Steffen Thiel
Am J Hum Genet. 2011 Jun 10; 88(6): 689–705. doi: 10.1016/j.ajhg.2011.05.011
PMCID:
PMC3113252
ArticlePDF–849K
13.
Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
Caroline Rooryck, Anna Diaz-Font, Daniel P.S. Osborn, Elyes Chabchoub, Victor Hernandez-Hernandez, Hanan Shamseldin, Joanna Kenny, Aoife Waters, Dagan Jenkins, Ali Al Kaissi, Gabriela F. Leal, Bruno Dallapiccola, Franco Carnevale, Maria Bitner-Glindzicz, Melissa Lees, Raoul Hennekam, Philip Stanier, Alan J. Burns, Hilde Peeters, Fowzan S Alkuraya, Philip L. Beales
Nat Genet. Author manuscript; available in PMC 2011 Sep 1.
Published in final edited form as: Nat Genet. 2011 Mar; 43(3): 197–203. Published online 2011 Jan 23. doi: 10.1038/ng.757
PMCID:
PMC3045628
ArticlePDF–2.3M

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