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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: huylebroeck d. 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.
Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency.
Herreman A, Hartmann D, Annaert W, Saftig P, Craessaerts K, Serneels L, Umans L, Schrijvers V, Checler F, Vanderstichele H, Baekelandt V, Dressel R, Cupers P, Huylebroeck D, Zwijsen A, Van Leuven F, De Strooper B. Herreman A, et al. Among authors: huylebroeck d. Proc Natl Acad Sci U S A. 1999 Oct 12;96(21):11872-7. doi: 10.1073/pnas.96.21.11872. Proc Natl Acad Sci U S A. 1999. PMID: 10518543 Free PMC article.
Smad5 is essential for left-right asymmetry in mice.
Chang H, Zwijsen A, Vogel H, Huylebroeck D, Matzuk MM. Chang H, et al. Among authors: huylebroeck d. Dev Biol. 2000 Mar 1;219(1):71-8. doi: 10.1006/dbio.1999.9594. Dev Biol. 2000. PMID: 10677256
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