MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Nature Genetics

Volumn 47, Issue 11, 2015, Pages 1260-1263

  Guimier, Anne ^a,b   Gabriel, George C ^c   Bajolle, Fanny ^d   Tsang, Michael ^c   Liu, Hui ^e,f   Noll, Aaron ^g,h   Schwartz, Molly ^c   El Malti, Rajae ^e,f   Smith, Laurie D ^g,h   Klena, Nikolai T ^c   Jimenez, Gina ^e,f   Miller, Neil A ^g,h   Oufadem, Myriam ^a,b   De Bellaing, Anne Moreau ^e,f   Yagi, Hisato ^c   Saunders, Carol J ^g,h   Baker, Candice N ⁱ   Di Filippo, Sylvie ^e   Peterson, Kevin A ⁱ   Thiffault, Isabelle ^g,h   Bole Feysot, Christine ^a,b   Cooley, Linda D ^g,h   Farrow, Emily G ^g,h   Masson, Cécile ^a,b   Schoen, Patric ^j   Deleuze, Jean François ^k   Nitschké, Patrick ^a,b   Lyonnet, Stanislas ^a,b,d   De Pontual, Loic ^a,b   Murray, Stephen A ⁱ   Bonnet, Damien ^b,d   Kingsmore, Stephen F ^g,h   Amiel, Jeanne ^a,b,d   Bouvagnet, Patrice ^e,f   Lo, Cecilia W ^c   Gordon, Christopher T ^a,b   more..

^a IMAGINE INSTITUTE   (France)

^b Hôpital Necker Enfants Malades   (France)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e HOSPICES CIVILS DE LYON   (France)

^f UNIVERSITÉ LYON 1   (France)

^g CHILDREN S MERCY KANSAS CITY   (United States)

^h UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

ⁱ JACKSON LABORATORY   (United States)

^j TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^k DIF   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MATRIX METALLOPROTEINASE; MATRIX METALLOPROTEINASE 21; MESSENGER RNA; STROMELYSIN 3; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG; MMP21 PROTEIN, HUMAN; ZEBRAFISH PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; CRISPR CAS SYSTEM; CRYSTAL STRUCTURE; EMBRYO; EMBRYO DEVELOPMENT; EXOME; EXTRACELLULAR MATRIX; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE SEQUENCE; HEMISPHERIC DOMINANCE; HETEROTAXY SYNDROME; HETEROZYGOSITY; HIGH THROUGHPUT SEQUENCING; HOMOZYGOSITY; MISSENSE MUTATION; MOUSE; NEXT GENERATION SEQUENCING; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; ZEBRA FISH; ANIMAL; CONGENITAL HEART MALFORMATION; DNA SEQUENCE; EMBRYOLOGY; FAMILY HEALTH; FEMALE; GENE EXPRESSION REGULATION; GENETICS; HEART; HUMAN; IN SITU HYBRIDIZATION; MALE; METABOLISM; MORPHOGENESIS; NONMAMMALIAN EMBRYO; PEDIGREE; PROCEDURES; RECESSIVE GENE; VERTEBRATE;

ANIMALS; BODY PATTERNING; EMBRYO, NONMAMMALIAN; FAMILY HEALTH; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, RECESSIVE; HEART; HEART DEFECTS, CONGENITAL; HETEROTAXY SYNDROME; HUMANS; IN SITU HYBRIDIZATION; MALE; MATRIX METALLOPROTEINASES, SECRETED; MICE; PEDIGREE; POINT MUTATION; SEQUENCE ANALYSIS, DNA; VERTEBRATES; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84945366432     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3376     Document Type: Article

References (23)

1. Sutherland, M.J., & Ware, S.M. Am. J. Med. Genet. C. Semin. Med. Genet. 151C, 307-317 (2009).
2. Jacobs, J.P., et al. Cardiol. Young 17 (suppl. 2), 1-28 (2007).
3. Lin, A.E., et al. Am. J. Med. Genet. A. 164A, 2581-2591 (2014).
4. Saunders, C.J., et al. Sci. Transl. Med. 4, 154ra135 (2012).
5. Brembeck, F.H., et al. Genes Dev. 18, 2225-2230 (2004).
6. Matsuura, K., et al. Nat. Commun. 2, 548 (2011).
7. Ahokas, K., et al Gene 301 31-41 2002).
8. Marchenko, G.N., Marchenko, N.D., & Strongin, A.Y. Biochem. J. 372, 503-515 (2003).
9. Li, Y., et al Nature 521 520-524 2015).
10. Akawi N., et al. Nat. Genet. doi:10.1038/ng.3410 5 October 2015).
11. Collins, M.M., & Ryan, A.K Genesis 52 488-502 2014).
12. Yu, Q., & Stamenkovic, I. Genes Dev. 14, 163-176 (2000).
13. Gros, J., Feistel, K., Viebahn, C., Blum, M., & Tabin, C.J Science 324 941-944 2009).
14. Soden, S.E., et al. Sci. Transl. Med. 6, 265ra168 (2014).
15. Fan, X., Abbott, T.E., Larson, D., & Chen, K. Curr. Protoc. Bioinformatics 45, 15.6.1-15.6.11 (2014).
16. Handsaker, R.E., Korn, J.M., Nemesh, J., & McCarroll, S.A. Nat. Genet. 43, 269-276 (2011).
17. Bahlo, M., & Bromhead, C.J Bioinformatics 25 1961-1962 2009).
18. Smith, K.R., et al. Genome Biol. 12, R85 (2011).
19. Abecasis, G.R., Cherny, S.S., Cookson, W.O., & Cardon, L.R. Nat. Genet. 30, 97-101 (2002).
20. Gazal, S., Sahbatou, M., Babron, M.C., Genin, E., & Leutenegger, A.L Bioinformatics 30 1940-1941 2014).
21. Gall, A.L., et al. J. Mol. Biol. 307, 577-586 (2001).
22. Thisse, C., & Thisse, B. Nat. Protoc. 3, 59-69 (2008).
23. Huang, C.J., Tu, C.T., Hsiao, C.D., Hsieh, F.J., & Tsai, H.J. Dev. Dyn. 228, 30-40 (2003).