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Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome.
Van de Putte T, Maruhashi M, Francis A, Nelles L, Kondoh H, Huylebroeck D, Higashi Y. Van de Putte T, et al. Among authors: francis a. Am J Hum Genet. 2003 Feb;72(2):465-70. doi: 10.1086/346092. Epub 2003 Jan 9. Am J Hum Genet. 2003. PMID: 12522767 Free PMC article.
Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.
Verhoeven K, De Jonghe P, Van de Putte T, Nelis E, Zwijsen A, Verpoorten N, De Vriendt E, Jacobs A, Van Gerwen V, Francis A, Ceuterick C, Huylebroeck D, Timmerman V. Verhoeven K, et al. Among authors: francis a. Am J Hum Genet. 2003 Oct;73(4):926-32. doi: 10.1086/378159. Epub 2003 Aug 19. Am J Hum Genet. 2003. PMID: 14508709 Free PMC article.
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR. Maas NM, et al. Among authors: francis a. J Med Genet. 2007 Sep;44(9):562-9. doi: 10.1136/jmg.2007.049510. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586838 Free PMC article.
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR. Maas NM, et al. Among authors: francis a. BMJ Case Rep. 2009;2009:bcr06.2009.1994. doi: 10.1136/bcr.06.2009.1994. Epub 2009 Jun 30. BMJ Case Rep. 2009. PMID: 21720541 Free PMC article.
Few Smad proteins and many Smad-interacting proteins yield multiple functions and action modes in TGFβ/BMP signaling in vivo.
Conidi A, Cazzola S, Beets K, Coddens K, Collart C, Cornelis F, Cox L, Joke D, Dobreva MP, Dries R, Esguerra C, Francis A, Ibrahimi A, Kroes R, Lesage F, Maas E, Moya I, Pereira PN, Stappers E, Stryjewska A, van den Berghe V, Vermeire L, Verstappen G, Seuntjens E, Umans L, Zwijsen A, Huylebroeck D. Conidi A, et al. Among authors: francis a. Cytokine Growth Factor Rev. 2011 Oct-Dec;22(5-6):287-300. doi: 10.1016/j.cytogfr.2011.11.006. Epub 2011 Nov 26. Cytokine Growth Factor Rev. 2011. PMID: 22119658 Review.
1,102 results