310 related articles for article (PubMed ID: 22095531)
1. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
Robinson A; Escuin S; Doudney K; Vekemans M; Stevenson RE; Greene ND; Copp AJ; Stanier P
Hum Mutat; 2012 Feb; 33(2):440-7. PubMed ID: 22095531
[TBL] [Abstract][Full Text] [Related]
2. Mutations in planar cell polarity gene SCRIB are associated with spina bifida.
Lei Y; Zhu H; Duhon C; Yang W; Ross ME; Shaw GM; Finnell RH
PLoS One; 2013; 8(7):e69262. PubMed ID: 23922697
[TBL] [Abstract][Full Text] [Related]
3. Digenic variants of planar cell polarity genes in human neural tube defect patients.
Wang L; Xiao Y; Tian T; Jin L; Lei Y; Finnell RH; Ren A
Mol Genet Metab; 2018 May; 124(1):94-100. PubMed ID: 29573971
[TBL] [Abstract][Full Text] [Related]
4. Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.
Tian T; Lei Y; Chen Y; Karki M; Jin L; Finnell RH; Wang L; Ren A
Hum Genet; 2020 Oct; 139(10):1299-1314. PubMed ID: 32356230
[TBL] [Abstract][Full Text] [Related]
5. Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice.
Murdoch JN; Damrau C; Paudyal A; Bogani D; Wells S; Greene ND; Stanier P; Copp AJ
Dis Model Mech; 2014 Oct; 7(10):1153-63. PubMed ID: 25128525
[TBL] [Abstract][Full Text] [Related]
6. Rare copy number variations of planar cell polarity genes are associated with human neural tube defects.
Tian T; Lei Y; Chen Y; Guo Y; Jin L; Finnell RH; Wang L; Ren A
Neurogenetics; 2020 Jul; 21(3):217-225. PubMed ID: 32388773
[TBL] [Abstract][Full Text] [Related]
7. A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects.
Juriloff DM; Harris MJ
Birth Defects Res A Clin Mol Teratol; 2012 Oct; 94(10):824-40. PubMed ID: 23024041
[TBL] [Abstract][Full Text] [Related]
8. Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.
Allache R; De Marco P; Merello E; Capra V; Kibar Z
Birth Defects Res A Clin Mol Teratol; 2012 Mar; 94(3):176-81. PubMed ID: 22371354
[TBL] [Abstract][Full Text] [Related]
9. Mutations associated with human neural tube defects display disrupted planar cell polarity in
Humphries AC; Narang S; Mlodzik M
Elife; 2020 Apr; 9():. PubMed ID: 32234212
[TBL] [Abstract][Full Text] [Related]
10. Genetic analysis of Wnt/PCP genes in neural tube defects.
Chen Z; Lei Y; Cao X; Zheng Y; Wang F; Bao Y; Peng R; Finnell RH; Zhang T; Wang H
BMC Med Genomics; 2018 Apr; 11(1):38. PubMed ID: 29618362
[TBL] [Abstract][Full Text] [Related]
11. 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
Biochemistry; 2014 Aug; 53(32):5356-64. PubMed ID: 25068569
[TBL] [Abstract][Full Text] [Related]
12. Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.
Merello E; Mascelli S; Raso A; Piatelli G; Consales A; Cama A; Kibar Z; Capra V; Marco PD
Birth Defects Res A Clin Mol Teratol; 2015 Jan; 103(1):51-61. PubMed ID: 25208524
[TBL] [Abstract][Full Text] [Related]
13. Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization.
Kharfallah F; Guyot MC; El Hassan AR; Allache R; Merello E; De Marco P; Di Cristo G; Capra V; Kibar Z
Hum Mol Genet; 2017 Jun; 26(12):2307-2320. PubMed ID: 28369449
[TBL] [Abstract][Full Text] [Related]
14. Identification of novel CELSR1 mutations in spina bifida.
Lei Y; Zhu H; Yang W; Ross ME; Shaw GM; Finnell RH
PLoS One; 2014; 9(3):e92207. PubMed ID: 24632739
[TBL] [Abstract][Full Text] [Related]
15. The novel mouse mutant, chuzhoi, has disruption of Ptk7 protein and exhibits defects in neural tube, heart and lung development and abnormal planar cell polarity in the ear.
Paudyal A; Damrau C; Patterson VL; Ermakov A; Formstone C; Lalanne Z; Wells S; Lu X; Norris DP; Dean CH; Henderson DJ; Murdoch JN
BMC Dev Biol; 2010 Aug; 10():87. PubMed ID: 20704721
[TBL] [Abstract][Full Text] [Related]
16. The planar cell polarity gene Vangl2 is required for mammalian kidney-branching morphogenesis and glomerular maturation.
Yates LL; Papakrivopoulou J; Long DA; Goggolidou P; Connolly JO; Woolf AS; Dean CH
Hum Mol Genet; 2010 Dec; 19(23):4663-76. PubMed ID: 20843830
[TBL] [Abstract][Full Text] [Related]
17. Independent mutations in mouse Vangl2 that cause neural tube defects in looptail mice impair interaction with members of the Dishevelled family.
Torban E; Wang HJ; Groulx N; Gros P
J Biol Chem; 2004 Dec; 279(50):52703-13. PubMed ID: 15456783
[TBL] [Abstract][Full Text] [Related]
18. Epithelial cell polarity genes are required for neural tube closure.
Doudney K; Stanier P
Am J Med Genet C Semin Med Genet; 2005 May; 135C(1):42-7. PubMed ID: 15800847
[TBL] [Abstract][Full Text] [Related]
19. Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.
Bosoi CM; Capra V; Allache R; Trinh VQ; De Marco P; Merello E; Drapeau P; Bassuk AG; Kibar Z
Hum Mutat; 2011 Dec; 32(12):1371-5. PubMed ID: 21901791
[TBL] [Abstract][Full Text] [Related]
20. Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects.
Yang XY; Zhou XY; Wang QQ; Li H; Chen Y; Lei YP; Ma XH; Kong P; Shi Y; Jin L; Zhang T; Wang HY
Hum Mutat; 2013 Aug; 34(8):1094-101. PubMed ID: 23592378
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]