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Toward understanding the genetic basis of neural tube defects.
Kibar Z, Capra V, Gros P. Kibar Z, et al. Clin Genet. 2007 Apr;71(4):295-310. doi: 10.1111/j.1399-0004.2007.00793.x. Clin Genet. 2007. PMID: 17470131 Review.
Genetic control of susceptibility to carcinogen-induced colorectal cancer in mice: the Ccs3 and Ccs5 loci regulate different aspects of tumorigenesis.
Meunier C, Kwan T, Turbide C, Beauchemin N, Gros P. Meunier C, et al. Cell Cycle. 2011 Jun 1;10(11):1739-49. doi: 10.4161/cc.10.11.15817. Epub 2011 Jun 1. Cell Cycle. 2011. PMID: 21543896
Genetic interaction between members of the Vangl family causes neural tube defects in mice.
Torban E, Patenaude AM, Leclerc S, Rakowiecki S, Gauthier S, Andelfinger G, Epstein DJ, Gros P. Torban E, et al. Proc Natl Acad Sci U S A. 2008 Mar 4;105(9):3449-54. doi: 10.1073/pnas.0712126105. Epub 2008 Feb 22. Proc Natl Acad Sci U S A. 2008. PMID: 18296642 Free PMC article.
Identification and characterization of a novel chemically induced allele at the planar cell polarity gene Vangl2.
El-Hassan AR, Leung V, Kharfallah F, Guyot MC, Allache R, Gros P, Kibar Z. El-Hassan AR, et al. Mamm Genome. 2018 Apr;29(3-4):229-244. doi: 10.1007/s00335-017-9721-8. Epub 2017 Oct 24. Mamm Genome. 2018. PMID: 29063958
We report on a novel chemically induced mutant allele at Vangl2 called Curly Bob that causes a missense mutation p.Ile268Asn (I268N) in the Vangl2 protein. ...
We report on a novel chemically induced mutant allele at Vangl2 called Curly Bob that causes a missense mutation p.Ile268Asn (I268N) …
An expanding role of Vangl proteins in embryonic development.
Torban E, Iliescu A, Gros P. Torban E, et al. Curr Top Dev Biol. 2012;101:237-61. doi: 10.1016/B978-0-12-394592-1.00005-3. Curr Top Dev Biol. 2012. PMID: 23140632
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.
Seo JH, Zilber Y, Babayeva S, Liu J, Kyriakopoulos P, De Marco P, Merello E, Capra V, Gros P, Torban E. Seo JH, et al. Hum Mol Genet. 2011 Nov 15;20(22):4324-33. doi: 10.1093/hmg/ddr359. Epub 2011 Aug 12. Hum Mol Genet. 2011. PMID: 21840926
A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene.
Guyot MC, Bosoi CM, Kharfallah F, Reynolds A, Drapeau P, Justice M, Gros P, Kibar Z. Guyot MC, et al. Dev Dyn. 2011 Apr;240(4):839-49. doi: 10.1002/dvdy.22577. Epub 2011 Feb 18. Dev Dyn. 2011. PMID: 21404367 Free PMC article.
Novel mutations in VANGL1 in neural tube defects.
Kibar Z, Bosoi CM, Kooistra M, Salem S, Finnell RH, De Marco P, Merello E, Bassuk AG, Capra V, Gros P. Kibar Z, et al. Hum Mutat. 2009 Jul;30(7):E706-15. doi: 10.1002/humu.21026. Hum Mutat. 2009. PMID: 19319979 Free PMC article. Clinical Trial.
We identified five novel missense variants in VANGL1, p.Ser83Leu, p.Phe153Ser, p.Arg181Gln, p.Leu202Phe and p.Ala404Ser, occurring in sporadic and familial cases of spinal dysraphisms. ...
We identified five novel missense variants in VANGL1, p.Ser83Leu, p.Phe153Ser, p.Arg181Gln, p.Leu202Phe and p
VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.
Reynolds A, McDearmid JR, Lachance S, De Marco P, Merello E, Capra V, Gros P, Drapeau P, Kibar Z. Reynolds A, et al. Mech Dev. 2010 Jul-Aug;127(7-8):385-92. doi: 10.1016/j.mod.2009.12.002. Epub 2010 Jan 4. Mech Dev. 2010. PMID: 20043994 Free PMC article.
In contrast, co-injection of two human VANGL1 variants, p.Val239Ile and p.Met328Thr, failed to rescue this phenotype. We next carried out overexpression studies where we measured the ability of the human VANGL1 alleles to induce a CE phenotype when injected at high …
In contrast, co-injection of two human VANGL1 variants, p.Val239Ile and p.Met328Thr, failed to rescue this phenotype. We next …
Independent mutations at Arg181 and Arg274 of Vangl proteins that are associated with neural tube defects in humans decrease protein stability and impair membrane targeting.
Iliescu A, Gravel M, Horth C, Gros P. Iliescu A, et al. Biochemistry. 2014 Aug 19;53(32):5356-64. doi: 10.1021/bi500400g. Epub 2014 Aug 6. Biochemistry. 2014. PMID: 25068569
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