Details of Disease

Disease Name

Neural tube defect

spinal dysraphism; NTD

Definition

A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.

Disease Hierarchy

DISOV08L: Central nervous system malformation

DIS5J95E: Neural tube defect

Disease Identifiers

MONDO ID

MONDO_0018075

MESH ID

D009436

UMLS CUI

C0027794

MedGen ID

18009

HPO ID

HP:0045005

Orphanet ID

3388

SNOMED CT ID

253098009

General Information of Disease (ID: DIS5J95E)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 41 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BMP1	TT0L58T	Limited	Genetic Variation	[1]
FOLR2	TTT54CI	Limited	Altered Expression	[2]
PRCP	TTTJZ4M	Limited	Genetic Variation	[1]
VANGL1	TT18WJB	Limited	Biomarker	[3]
CARM1	TTIZQFJ	Disputed	Biomarker	[4]
CD320	TT0KV32	Disputed	Genetic Variation	[5]
EED	TTFNJ4R	Disputed	Biomarker	[6]
ID2	TTW8A5N	Disputed	Altered Expression	[7]
PRKACA	TT5U49F	Disputed	Genetic Variation	[8]
SLC19A2	TT2A1DZ	Disputed	Genetic Variation	[9]
TAGLN2	TTP6BIJ	Disputed	Biomarker	[10]
TRPM6	TTV76RD	Disputed	Biomarker	[11]
CCL2	TTNAY0P	Strong	Biomarker	[12]
CSF2	TTNYZG2	Strong	Biomarker	[13]
CUBN	TT9YLCR	Strong	Biomarker	[14]
CYP1A2	TTS1DTU	Strong	Biomarker	[15]
DHFR	TTYZVDJ	Strong	Biomarker	[16]
F2RL2	TTVSEBF	Strong	Altered Expression	[17]
FOLH1	TT9G4N0	Strong	Biomarker	[16]
FOLR1	TTVC37M	Strong	Altered Expression	[2]
GRHL2	TTUGH4C	Strong	Genetic Variation	[18]
LRP6	TTSXOWE	Strong	Genetic Variation	[19]
MARCKS	TTHRM39	Strong	Altered Expression	[20]
PDGFRA	TT8FYO9	Strong	Altered Expression	[21]
PTK7	TTXH2ZN	Strong	Genetic Variation	[22]
SHH	TTIENCJ	Strong	Genetic Variation	[23]
UCP2	TTSC2YM	Strong	Genetic Variation	[24]
UGCG	TTPHEX3	Strong	Genetic Variation	[25]
DAPK3	TTERVQN	Definitive	Biomarker	[26]
FGF8	TTIUF3J	Definitive	Biomarker	[14]
GHRL	TT1OCL0	Definitive	Therapeutic	[27]
INS	TTZOPHG	Definitive	Therapeutic	[28]
MYH2	TTBIL13	Definitive	Biomarker	[29]
NPY1R	TTRK9JT	Definitive	Biomarker	[27]
PEMT	TT735V2	Definitive	Genetic Variation	[30]
PRSS8	TTT4N0Q	Definitive	Therapeutic	[31]
PYY	TTVFJLX	Definitive	Biomarker	[27]
RRM1	TTWP0NS	Definitive	Biomarker	[32]
SLC22A16	TTITAVR	Definitive	Genetic Variation	[33]
SLC40A1	TT6Y1PG	Definitive	Biomarker	[34]
SLC46A1	TTY8Z2E	Definitive	Genetic Variation	[35]
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⏷ Show the Full List of 41 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ANXA11	DTGQ2CF	Disputed	Biomarker	[10]
SLC2A2	DTUJPOL	Definitive	Biomarker	[36]
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This Disease Is Related to 8 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MTRR	DE6NIY9	Limited	Altered Expression	[2]
PGPEP1	DEVDR46	Limited	Genetic Variation	[1]
GLDC	DEIN8FB	Disputed	Genetic Variation	[37]
ALDH1A2	DEKN1H4	Strong	Biomarker	[38]
GCLC	DESYL1F	Strong	Genetic Variation	[25]
NAT2	DER7TA0	Strong	Biomarker	[15]
CYP26B1	DEZT8FM	Definitive	Genetic Variation	[38]
DIO3	DET89OV	Definitive	Biomarker	[39]
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⏷ Show the Full List of 8 DME(s)

This Disease Is Related to 85 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALX3	OTXZ25PZ	Limited	Genetic Variation	[40]
CECR2	OTF54V3W	Limited	Genetic Variation	[41]
CSRP3	OTECBJMV	Limited	Biomarker	[42]
RIN2	OTCY73U9	Limited	Genetic Variation	[42]
SELENOH	OTZ0QU22	Limited	Genetic Variation	[43]
TCN1	OTW6A49Y	Limited	Altered Expression	[44]
CFHR1	OT72R16T	Disputed	Genetic Variation	[45]
CITED2	OT812TV7	Disputed	Genetic Variation	[4]
CRABP2	OTY01V9G	Disputed	Biomarker	[46]
CXCL6	OTFTCQ4O	Disputed	Genetic Variation	[47]
DACT1	OT19Z704	Disputed	Genetic Variation	[48]
FKBP8	OT8RPSOC	Disputed	Genetic Variation	[49]
GOLGA4	OTCMEHNJ	Disputed	Genetic Variation	[47]
JARID2	OT14UM8H	Disputed	Genetic Variation	[50]
KDM2B	OTDMCVW7	Disputed	Altered Expression	[51]
KRT1	OTIOJWA4	Disputed	Biomarker	[10]
LST1	OTUVG424	Disputed	Biomarker	[52]
MAB21L1	OT8FJMU8	Disputed	Genetic Variation	[53]
MALL	OTKGZ89D	Disputed	Biomarker	[52]
NAP1L2	OT8QI4GF	Disputed	Altered Expression	[54]
PRX	OT34Z10B	Disputed	Genetic Variation	[55]
SHMT1	OTIINA3J	Disputed	Genetic Variation	[56]
TGIF1	OTN9VHAG	Disputed	Genetic Variation	[57]
TRIP6	OTIPA4ZR	Disputed	Biomarker	[10]
SHROOM3	OTQKC5X2	moderate	Genetic Variation	[58]
ALDH1L1	OT15HOJX	Strong	Genetic Variation	[59]
ALX1	OTZVARA5	Strong	Biomarker	[4]
CELSR1	OT7PS8O1	Strong	Genetic Variation	[60]
CRPPA	OTC85K8Q	Strong	Genetic Variation	[61]
DVL1	OTD67RF1	Strong	Genetic Variation	[62]
DVL2	OTMNYNCM	Strong	Biomarker	[63]
FOXN1	OTE80D6I	Strong	Genetic Variation	[64]
FZD3	OTIWDN78	Strong	Posttranslational Modification	[65]
FZD6	OTBCPII8	Strong	Genetic Variation	[66]
GLI3	OTKDOE94	Strong	Biomarker	[67]
GRHL3	OT1V4ZEH	Strong	Genetic Variation	[68]
INPP5E	OTJF2AZ9	Strong	Altered Expression	[69]
LMNB1	OT100T3P	Strong	Biomarker	[70]
MARCKSL1	OT13J2FM	Strong	Biomarker	[20]
MSX2	OT1WDKE1	Strong	Genetic Variation	[71]
MTHFD1L	OTV01EFP	Strong	Biomarker	[72]
NOG	OTGRHHPG	Strong	Genetic Variation	[73]
PARD3	OTH5BPLO	Strong	Biomarker	[74]
PAX1	OT0Y3MIM	Strong	Genetic Variation	[75]
PCMT1	OTGYVSGU	Strong	Genetic Variation	[76]
PRICKLE1	OT9HHEM9	Strong	Biomarker	[77]
PRKACB	OT6RMDCE	Strong	Genetic Variation	[78]
RAB11FIP3	OTDFFCZA	Strong	Biomarker	[4]
RAB23	OTBAKFBR	Strong	Altered Expression	[79]
RXYLT1	OTQTO7VU	Strong	Genetic Variation	[61]
SCRIB	OTW4N3FV	Strong	Biomarker	[3]
SMARCC1	OTUOMBE7	Strong	Genetic Variation	[80]
SOX3	OT1CRCOB	Strong	Biomarker	[81]
SPINT2	OTQV7BKQ	Strong	Altered Expression	[13]
TBX1	OTQLBPRA	Strong	Biomarker	[82]
TBXT	OTHCO2F0	Strong	Biomarker	[83]
TCN2	OT41D0L3	Strong	Biomarker	[67]
TRAF4	OTJLRVMC	Strong	Biomarker	[4]
TRDMT1	OTAYQ8ZF	Strong	Biomarker	[84]
AMT	OTQYEWZQ	Definitive	Genetic Variation	[37]
ANKRD6	OTM86B04	Definitive	Genetic Variation	[85]
CDH23	OTOJGQ7S	Definitive	Genetic Variation	[86]
CTNNA1	OTFC725Z	Definitive	Genetic Variation	[29]
CUL4B	OT2QX4DO	Definitive	Altered Expression	[87]
DLX5	OTEEFBEU	Definitive	Altered Expression	[88]
DVL3	OTPRROHJ	Definitive	Biomarker	[63]
EMG1	OTFDX7HY	Definitive	Genetic Variation	[89]
GCKR	OTSIWXGG	Definitive	Genetic Variation	[90]
GPC5	OT8NR7GC	Definitive	Altered Expression	[91]
GPR161	OT80FYA3	Definitive	Genetic Variation	[92]
HHEX	OTLIUVYX	Definitive	Genetic Variation	[90]
ITPK1	OTP4PGL6	Definitive	Genetic Variation	[93]
LIG3	OT48SKET	Definitive	Genetic Variation	[94]
NHLRC2	OTY4HPWB	Definitive	Genetic Variation	[95]
NKX2-8	OT6Q3DJ0	Definitive	Genetic Variation	[96]
NOL3	OT1K0L0D	Definitive	Altered Expression	[97]
POU3F1	OTYARA94	Definitive	Genetic Variation	[33]
SALL2	OTQWI68Q	Definitive	Biomarker	[98]
SEC24B	OT6W8CWP	Definitive	Genetic Variation	[99]
SHROOM1	OTUP99ZD	Definitive	Genetic Variation	[100]
SHROOM2	OTZ2FJ7Q	Definitive	Genetic Variation	[100]
SKI	OT4KJ8F6	Definitive	Biomarker	[101]
SUFU	OT0IRYG1	Definitive	Genetic Variation	[102]
TCTN3	OTZSHERV	Definitive	Biomarker	[103]
TRADD	OTBOSJHO	Definitive	Altered Expression	[104]
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⏷ Show the Full List of 85 DOT(s)

References

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2	Temporal expression of genes involved in folate metabolism and transport during placental development, preeclampsia and neural tube defects.Mol Biol Rep. 2019 Jun;46(3):3193-3201. doi: 10.1007/s11033-019-04776-w. Epub 2019 Apr 2.
3	Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization.Hum Mol Genet. 2017 Jun 15;26(12):2307-2320. doi: 10.1093/hmg/ddx122.
4	Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study.BMC Med Genet. 2010 Oct 8;11:141. doi: 10.1186/1471-2350-11-141.
5	Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects.J Med Genet. 2010 Oct;47(10):677-85. doi: 10.1136/jmg.2009.073775. Epub 2010 Jun 24.
6	Embryonic ectoderm development protein is regulated by microRNAs in human neural tube defects.Am J Obstet Gynecol. 2011 Jun;204(6):544.e9-17. doi: 10.1016/j.ajog.2011.01.045. Epub 2011 Apr 16.
7	Association between a 45-bp 3'untranslated insertion/deletion polymorphism in exon 8 of UCP2 gene and neural tube defects in a high-risk area of China.Reprod Sci. 2011 Jun;18(6):556-60. doi: 10.1177/1933719110393026. Epub 2011 Jan 25.
8	Genes encoding catalytic subunits of protein kinase A and risk of spina bifida.Birth Defects Res A Clin Mol Teratol. 2005 Sep;73(9):591-6. doi: 10.1002/bdra.20175.
9	Interaction between maternal periconceptional supplementation of folic acid and reduced folate carrier gene polymorphism of neural tube defects.Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Jun;22(3):284-7.
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11	Mice defective in Trpm6 show embryonic mortality and neural tube defects.Hum Mol Genet. 2009 Nov 15;18(22):4367-75. doi: 10.1093/hmg/ddp392. Epub 2009 Aug 18.
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14	Cubilin, the Intrinsic Factor-Vitamin B12 Receptor in Development and Disease.Curr Med Chem. 2020;27(19):3123-3150. doi: 10.2174/0929867325666181008143945.
15	Caffeine, selected metabolic gene variants, and risk for neural tube defects. Birth Defects Res A Clin Mol Teratol. 2010 Jul;88(7):560-9.
16	Association of FOLH1, DHFR, and MTHFR gene polymorphisms with susceptibility of Neural Tube Defects: A case control study from Eastern India.Birth Defects Res. 2018 Aug 15;110(14):1129-1138. doi: 10.1002/bdr2.1365. Epub 2018 Aug 18.
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19	Novel Mutation of LRP6 Identified in Chinese Han Population Links Canonical WNT Signaling to Neural Tube Defects.Birth Defects Res. 2018 Jan 15;110(1):63-71. doi: 10.1002/bdr2.1122. Epub 2017 Sep 29.
20	MARCKS: a case of molecular exaptation?.Int J Biochem Cell Biol. 2000 May;32(5):475-9. doi: 10.1016/s1357-2725(99)00152-1.
21	Haplotype-specific expression of the human PDGFRA gene correlates with the risk of glioblastomas.Int J Cancer. 2008 Jul 15;123(2):322-329. doi: 10.1002/ijc.23432.
22	Variants identified in PTK7 associated with neural tube defects.Mol Genet Genomic Med. 2019 Apr;7(4):e00584. doi: 10.1002/mgg3.584. Epub 2019 Jan 28.
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24	Diabetes and obesity-related genes and the risk of neural tube defects in the national birth defects prevention study.Am J Epidemiol. 2012 Dec 15;176(12):1101-9. doi: 10.1093/aje/kws190. Epub 2012 Nov 6.
25	Genetic association of the glycine cleavage system genes and myelomeningocele.Birth Defects Res A Clin Mol Teratol. 2016 Oct;106(10):847-853. doi: 10.1002/bdra.23552. Epub 2016 Sep 13.
26	Distribution of congenital anomalies by race/ethnicity and geospatial location in Oklahoma, 1997-2009.Birth Defects Res. 2020 Feb 1;112(3):262-269. doi: 10.1002/bdr2.1631. Epub 2019 Dec 10.
27	Gastrointestinal hormones (anorexigenic peptide YY and orexigenic ghrelin) influence neural tube development.FASEB J. 2007 Jul;21(9):2108-12. doi: 10.1096/fj.06-7621com. Epub 2007 Mar 30.
28	Arsenate-induced maternal glucose intolerance and neural tube defects in a mouse model.Toxicol Appl Pharmacol. 2009 Aug 15;239(1):29-36. doi: 10.1016/j.taap.2009.05.009. Epub 2009 May 14.
29	Fetal DNA hypermethylation in tight junction pathway is associated with neural tube defects: A genome-wide DNA methylation analysis.Epigenetics. 2017 Feb;12(2):157-165. doi: 10.1080/15592294.2016.1277298. Epub 2017 Jan 6.
30	Maternal choline concentrations during pregnancy and choline-related genetic variants as risk factors for neural tube defects.Am J Clin Nutr. 2014 Oct;100(4):1069-74. doi: 10.3945/ajcn.113.079319. Epub 2014 Aug 13.
31	Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea.PLoS One. 2014 Apr 10;9(4):e94267. doi: 10.1371/journal.pone.0094267. eCollection 2014.
32	Ribonucleotide reductase subunit R1: a gene conferring sensitivity to valproic acid-induced neural tube defects in mice.Teratology. 2000 Apr;61(4):305-13. doi: 10.1002/(SICI)1096-9926(200004)61:4<305::AID-TERA10>3.0.CO;2-8.
33	Dysregulation of the SIRT1/OCT6 Axis Contributes to Environmental Stress-Induced Neural Induction Defects.Stem Cell Reports. 2017 May 9;8(5):1270-1286. doi: 10.1016/j.stemcr.2017.03.017. Epub 2017 Apr 20.
34	High levels of iron supplementation prevents neural tube defects in the Fpn1(ffe) mouse model.Birth Defects Res. 2017 Jan 30;109(2):81-91. doi: 10.1002/bdra.23542.
35	Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts.Am J Med Genet A. 2016 Apr;170A(4):1007-16. doi: 10.1002/ajmg.a.37539. Epub 2016 Jan 20.
36	Association of facilitated glucose transporter 2 gene variants with the myelomeningocele phenotype.Birth Defects Res A Clin Mol Teratol. 2015 Jun;103(6):479-87. doi: 10.1002/bdra.23358. Epub 2015 Mar 17.
37	Mutations of the glycine cleavage system genes possibly affect the negative symptoms of schizophrenia through metabolomic profile changes.Psychiatry Clin Neurosci. 2018 Mar;72(3):168-179. doi: 10.1111/pcn.12628. Epub 2018 Jan 31.
38	Genetic contribution of retinoid-related genes to neural tube defects.Hum Mutat. 2018 Apr;39(4):550-562. doi: 10.1002/humu.23397. Epub 2018 Jan 19.
39	Ectopic cross-talk between thyroid and retinoic acid signaling: A possible etiology for spinal neural tube defects.Gene. 2015 Dec 1;573(2):254-60. doi: 10.1016/j.gene.2015.07.048. Epub 2015 Jul 16.
40	Embryonic defence mechanisms against glucose-dependent oxidative stress require enhanced expression of Alx3 to prevent malformations during diabetic pregnancy.Sci Rep. 2017 Mar 24;7(1):389. doi: 10.1038/s41598-017-00334-1.
41	Genetic backgrounds and modifier genes of NTD mouse models: An opportunity for greater understanding of the multifactorial etiology of neural tube defects.Birth Defects Res. 2017 Jan 30;109(2):140-152. doi: 10.1002/bdra.23554.
42	Promoter sequence, expression, and fine chromosomal mapping of the human gene (MLP) encoding the MARCKS-like protein: identification of neighboring and linked polymorphic loci for MLP and MACS and use in the evaluation of human neural tube defects.Genomics. 1998 Apr 15;49(2):253-64. doi: 10.1006/geno.1998.5247.
43	Mini-review: toward understanding mechanisms of genetic neural tube defects in mice.Teratology. 1999 Nov;60(5):292-305. doi: 10.1002/(SICI)1096-9926(199911)60:5<292::AID-TERA10>3.0.CO;2-6.
44	Increased levels of apo-transcobalamins I and II in amniotic fluid from pregnant women with previous neural tube defect offspring.Clin Genet. 1986 Sep;30(3):167-72. doi: 10.1111/j.1399-0004.1986.tb00590.x.
45	The C677T polymorphism of the methylenetetrahydrofolate reductase gene in Mexican mestizo neural-tube defect parents, control mestizo and native populations.Ann Genet. 2000 Apr-Jun;43(2):89-92. doi: 10.1016/s0003-3995(00)90012-1.
46	Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.Birth Defects Res A Clin Mol Teratol. 2005 Nov;73(11):868-75. doi: 10.1002/bdra.20183.
47	Role of parental folate pathway single nucleotide polymorphisms in altering the susceptibility to neural tube defects in South India.J Perinat Med. 2010;38(1):63-9. doi: 10.1515/jpm.2009.119.
48	Identification of novel rare mutations of DACT1 in human neural tube defects.Hum Mutat. 2012 Oct;33(10):1450-5. doi: 10.1002/humu.22121. Epub 2012 Jun 19.
49	Mouse Fkbp8 activity is required to inhibit cell death and establish dorso-ventral patterning in the posterior neural tube.Hum Mol Genet. 2008 Feb 15;17(4):587-601. doi: 10.1093/hmg/ddm333. Epub 2007 Nov 13.
50	Gene and microRNA expression in p53-deficient day 8.5 mouse embryos.Birth Defects Res A Clin Mol Teratol. 2009 Jun;85(6):546-55. doi: 10.1002/bdra.20565.
51	Fbxl10/Kdm2b deficiency accelerates neural progenitor cell death and leads to exencephaly.Mol Cell Neurosci. 2011 Mar;46(3):614-24. doi: 10.1016/j.mcn.2011.01.001. Epub 2011 Jan 8.
52	Use of routinely collected amniotic fluid for whole-genome expression analysis of polygenic disorders.Clin Chem. 2006 Nov;52(11):2013-20. doi: 10.1373/clinchem.2006.074971. Epub 2006 Sep 28.
53	Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects.Birth Defects Res A Clin Mol Teratol. 2004 Nov;70(11):885-8. doi: 10.1002/bdra.20084.
54	SNPs in the CpG island of NAP1L2: a possible link between DNA methylation and neural tube defects?.Am J Med Genet. 2002 Jul 1;110(3):208-14. doi: 10.1002/ajmg.10453.
55	A regulating element essential for PDGFRA transcription is recognized by neural tube defect-associated PRX homeobox transcription factors.Biochim Biophys Acta. 2002 Dec 12;1588(3):254-60. doi: 10.1016/s0925-4439(02)00175-8.
56	Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches.Birth Defects Res. 2017 Apr 14. doi: 10.1002/bdra.23623. Online ahead of print.
57	New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.J Med Genet. 2011 Nov;48(11):752-60. doi: 10.1136/jmedgenet-2011-100339. Epub 2011 Sep 22.
58	Folic acid modifies the shape of epithelial cells during morphogenesis via a Folr1 and MLCK dependent mechanism.Biol Open. 2019 Jan 22;8(1):bio041160. doi: 10.1242/bio.041160.
59	Association between ALDH1L1 gene polymorphism and neural tube defects in the Chinese Han population.Neurol Sci. 2016 Jul;37(7):1049-54. doi: 10.1007/s10072-016-2527-8. Epub 2016 Mar 18.
60	Genetic analysis of Wnt/PCP genes in neural tube defects.BMC Med Genomics. 2018 Apr 4;11(1):38. doi: 10.1186/s12920-018-0355-9.
61	Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.
62	MARK2/Par1b Insufficiency Attenuates DVL Gene Transcription via Histone Deacetylation in Lumbosacral Spina Bifida.Mol Neurobiol. 2017 Oct;54(8):6304-6316. doi: 10.1007/s12035-016-0164-0. Epub 2016 Oct 6.
63	Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects.J Mol Neurosci. 2013 Mar;49(3):582-8. doi: 10.1007/s12031-012-9871-9. Epub 2012 Aug 15.
64	FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus.Clin Genet. 2008 Apr;73(4):380-4. doi: 10.1111/j.1399-0004.2008.00977.x.
65	DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high-risk region for neural tube defects.Birth Defects Res A Clin Mol Teratol. 2015 Jan;103(1):37-44. doi: 10.1002/bdra.23285. Epub 2014 Aug 18.
66	Polymorphisms in FZD3 and FZD6 genes and risk of neural tube defects in a northern Han Chinese population.Neurol Sci. 2014 Nov;35(11):1701-6. doi: 10.1007/s10072-014-1815-4. Epub 2014 May 10.
67	Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway.Hum Genet. 2019 Jul;138(7):703-713. doi: 10.1007/s00439-019-02015-7. Epub 2019 May 28.
68	Genetic variants in GRHL3 and risk for neural tube defects: A case-control and case-parent triad/control study.Birth Defects Res. 2019 Nov 15;111(19):1468-1478. doi: 10.1002/bdr2.1556. Epub 2019 Jul 22.
69	Relationship Between INPP5E Gene Expression and Embryonic Neural Development in a Mouse Model of Neural Tube Defect.Med Sci Monit. 2018 Apr 7;24:2053-2059. doi: 10.12659/msm.906095.
70	B-type lamins in health and disease.Semin Cell Dev Biol. 2014 May;29(100):158-63. doi: 10.1016/j.semcdb.2013.12.012. Epub 2013 Dec 28.
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