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Low folate concentration impacts mismatch repair deficiency in neural tube defects.

Li H, Wang X, Zhao H, Wang F, Bao Y, Guo J, Chang S, Wu L, Cheng H, Chen S, Zou J, Cui X, Niswander L, Finnell RH, Wang H, Zhang T.

Epigenomics. 2019 Nov 26. doi: 10.2217/epi-2019-0279. [Epub ahead of print]


Upregulation of reduced folate carrier by vitamin D enhances brain folate uptake in mice lacking folate receptor alpha.

Alam C, Aufreiter S, Georgiou CJ, Hoque MT, Finnell RH, O'Connor DL, Goldman ID, Bendayan R.

Proc Natl Acad Sci U S A. 2019 Aug 27;116(35):17531-17540. doi: 10.1073/pnas.1907077116. Epub 2019 Aug 12.


The interaction of maternal diabetes with mutations that affect folate metabolism and how they affect the development of neural tube defects in mice.

López-Escobar B, Wlodarczyk BJ, Caro-Vega J, Lin Y, Finnell RH, Ybot-González P.

Dev Dyn. 2019 Oct;248(10):900-917. doi: 10.1002/dvdy.92. Epub 2019 Aug 24.


Author Correction: Threshold for neural tube defect risk by accumulated singleton loss-of-function variants.

Chen Z, Lei Y, Zheng Y, Aguiar-Pulido V, Ross ME, Peng R, Jin L, Zhang T, Finnell RH, Wang H.

Cell Res. 2019 Sep;29(9):776. doi: 10.1038/s41422-019-0201-4.


Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.

Jenkins MM, Almli LM, Pangilinan F, Chong JX, Blue EE, Shapira SK, White J, McGoldrick D, Smith JD, Mullikin JC, Bean CJ, Nembhard WN, Lou XY, Shaw GM, Romitti PA, Keppler-Noreuil K, Yazdy MM, Kay DM, Carter TC, Olshan AF, Moore KJ, Nascone-Yoder N, Finnell RH, Lupo PJ, Feldkamp ML; NISC Comparative Sequencing Program; University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Brody LC, Reefhuis J; National Birth Defects Prevention Study.

Birth Defects Res. 2019 Dec 1;111(20):1618-1632. doi: 10.1002/bdr2.1554. Epub 2019 Jul 21.


Heritable Spina Bifida in Sheep: A Potential Model for Fetal Repair of Myelomeningocele.

Steele JW, Bayliss S, Bayliss J, Lin YL, Wlodarczyk BJ, Cabrera RM, Asfaw YG, Cummings TJ, Finnell RH, George TM.

J Pediatr Surg. 2019 Jun 29. pii: S0022-3468(19)30446-4. doi: 10.1016/j.jpedsurg.2019.06.019. [Epub ahead of print]


The antagonism of folate receptor by dolutegravir: developmental toxicity reduction by supplemental folic acid.

Cabrera RM, Souder JP, Steele JW, Yeo L, Tukeman G, Gorelick DA, Finnell RH.

AIDS. 2019 Nov 1;33(13):1967-1976. doi: 10.1097/QAD.0000000000002289.


Maternal genetic markers for risk of celiac disease and their potential association with neural tube defects in offspring.

Hoang TT, Lei Y, Mitchell LE, Sharma SV, Swartz MD, Waller DK, Finnell RH, Benjamin RH, Browne ML, Canfield MA, Lupo PJ, McKenzie P, Shaw GM, Agopian AJ; National Birth Defects Prevention Study.

Mol Genet Genomic Med. 2019 Jun;7(6):e688. doi: 10.1002/mgg3.688. Epub 2019 Apr 9.


Maternal Lactase Polymorphism (rs4988235) Is Associated with Neural Tube Defects in Offspring in the National Birth Defects Prevention Study.

Hoang TT, Lei Y, Mitchell LE, Sharma SV, Swartz MD, Waller DK, Finnell RH, Benjamin RH, Browne ML, Canfield MA, Lupo PJ, McKenzie P, Shaw G, Agopian AJ; National Birth Defects Prevention Study.

J Nutr. 2019 Feb 1;149(2):295-303. doi: 10.1093/jn/nxy246.


The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.

Kousa YA, Zhu H, Fakhouri WD, Lei Y, Kinoshita A, Roushangar RR, Patel NK, Agopian AJ, Yang W, Leslie EJ, Busch TD, Mansour TA, Li X, Smith AL, Li EB, Sharma DB, Williams TJ, Chai Y, Amendt BA, Liao EC, Mitchell LE, Bassuk AG, Gregory S, Ashley-Koch A, Shaw GM, Finnell RH, Schutte BC.

Hum Mol Genet. 2019 May 15;28(10):1726-1737. doi: 10.1093/hmg/ddz010.


Variants identified in PTK7 associated with neural tube defects.

Lei Y, Kim SE, Chen Z, Cao X, Zhu H, Yang W, Shaw GM, Zheng Y, Zhang T, Wang HY, Finnell RH.

Mol Genet Genomic Med. 2019 Apr;7(4):e00584. doi: 10.1002/mgg3.584. Epub 2019 Jan 28.


Folic acid modifies the shape of epithelial cells during morphogenesis via a Folr1 and MLCK dependent mechanism.

Martin JB, Muccioli M, Herman K, Finnell RH, Plageman TF Jr.

Biol Open. 2019 Jan 22;8(1). pii: bio041160. doi: 10.1242/bio.041160.


Rare mutations of ADAM17 from TOFs induce hypertrophy in human embryonic stem cell-derived cardiomyocytes via HB-EGF signaling.

Xie Y, Ma A, Wang B, Peng R, Jing Y, Wang D, Finnell RH, Qiao B, Wang Y, Wang H, Zheng Y.

Clin Sci (Lond). 2019 Jan 22;133(2):225-238. doi: 10.1042/CS20180842. Print 2019 Jan 31.


MicroRNA-197 controls ADAM10 expression to mediate MeCP2's role in the differentiation of neuronal progenitors.

Wang YM, Zheng YF, Yang SY, Yang ZM, Zhang LN, He YQ, Gong XH, Liu D, Finnell RH, Qiu ZL, Du YS, Wang HY.

Cell Death Differ. 2019 Oct;26(10):1863-1879. doi: 10.1038/s41418-018-0257-6. Epub 2018 Dec 18.


Metabolome-wide association study of anti-epileptic drug treatment during pregnancy.

Walker DI, Perry-Walker K, Finnell RH, Pennell KD, Tran V, May RC, McElrath TF, Meador KJ, Pennell PB, Jones DP.

Toxicol Appl Pharmacol. 2019 Jan 15;363:122-130. doi: 10.1016/j.taap.2018.12.001. Epub 2018 Dec 4.


Overview on neural tube defects: From development to physical characteristics.

Avagliano L, Massa V, George TM, Qureshy S, Bulfamante GP, Finnell RH.

Birth Defects Res. 2019 Nov 15;111(19):1455-1467. doi: 10.1002/bdr2.1380. Epub 2018 Nov 12. Review.


Teratogenicity of valproic acid and its constitutional isomer, amide derivative valnoctamide in mice.

Lin YL, Bialer M, Cabrera RM, Finnell RH, Wlodarczyk BJ.

Birth Defects Res. 2019 Aug 15;111(14):1013-1023. doi: 10.1002/bdr2.1406. Epub 2018 Oct 16.


Dominant negative GPR161 rare variants are risk factors of human spina bifida.

Kim SE, Lei Y, Hwang SH, Wlodarczyk BJ, Mukhopadhyay S, Shaw GM, Ross ME, Finnell RH.

Hum Mol Genet. 2019 Jan 15;28(2):200-208. doi: 10.1093/hmg/ddy339.


Tissue biomechanics during cranial neural tube closure measured by Brillouin microscopy and optical coherence tomography.

Zhang J, Raghunathan R, Rippy J, Wu C, Finnell RH, Larin KV, Scarcelli G.

Birth Defects Res. 2019 Aug 15;111(14):991-998. doi: 10.1002/bdr2.1389. Epub 2018 Sep 21.


Combining mouse embryonic stem cells and zebrafish embryos to evaluate developmental toxicity of chemical exposure.

Conde-Vancells J, Vazquez-Chantada M, McCollum CW, Bondesson M, Kalasekar SM, Wlodarczyk BJ, Gustafsson JÅ, Cabrera RM, Finnell RH.

Reprod Toxicol. 2018 Oct;81:220-228. doi: 10.1016/j.reprotox.2018.07.080. Epub 2018 Aug 10.


Combined effects of FH (E404D) and ACOX2 (R409H) cause metabolic defects in primary cardiac malignant tumor.

Zhou X, Xu M, Zeng W, Chen Z, Lu G, Gong Y, Finnell RH, Xiao H, Qiao B, Wang H.

Cell Death Discov. 2018 Jul 23;4:18. doi: 10.1038/s41420-018-0072-3. eCollection 2018. Erratum in: Cell Death Discov. 2019 Jul 10;5:116.


Generation of integration-free induced pluripotent stem cells from a patient with spina bifida.

Wang H, Zhao S, Finnell RH, George T, Cooney AJ.

Stem Cell Res. 2018 Aug;31:27-30. doi: 10.1016/j.scr.2018.05.007. Epub 2018 May 17.


Threshold for neural tube defect risk by accumulated singleton loss-of-function variants.

Chen Z, Lei Y, Zheng Y, Aguiar-Pulido V, Ross ME, Peng R, Jin L, Zhang T, Finnell RH, Wang H.

Cell Res. 2018 Oct;28(10):1039-1041. doi: 10.1038/s41422-018-0061-3. Epub 2018 Jul 5. No abstract available. Erratum in: Cell Res. 2019 Sep;29(9):776.


Gene variants in the folate pathway are associated with increased levels of folate receptor autoantibodies.

Dong Y, Wang L, Lei Y, Yang N, Cabrera RM, Finnell RH, Ren A.

Birth Defects Res. 2018 Jul 17;110(12):973-981. doi: 10.1002/bdr2.1334. Epub 2018 May 6.


Network correlation analysis revealed potential new mechanisms for neural tube defects beyond folic acid.

Gao X, Finnell RH, Wang H, Zheng Y.

Birth Defects Res. 2018 Jul 17;110(12):982-993. doi: 10.1002/bdr2.1336. Epub 2018 May 6.


Formate rescues neural tube defects caused by mutations in Slc25a32.

Kim J, Lei Y, Guo J, Kim SE, Wlodarczyk BJ, Cabrera RM, Lin YL, Nilsson TK, Zhang T, Ren A, Wang L, Yuan Z, Zheng YF, Wang HY, Finnell RH.

Proc Natl Acad Sci U S A. 2018 May 1;115(18):4690-4695. doi: 10.1073/pnas.1800138115. Epub 2018 Apr 16.


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 4;11(1):38. doi: 10.1186/s12920-018-0355-9.


Hypomethylation of GRHL3 gene is associated with the occurrence of neural tube defects.

Tian T, Wang L, Shen Y, Zhang B, Finnell RH, Ren A.

Epigenomics. 2018 Jul;10(7):891-901. doi: 10.2217/epi-2018-0016. Epub 2018 Mar 28.


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. doi: 10.1016/j.ymgme.2018.03.005. Epub 2018 Mar 18.


Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort.

Chen Z, Kuang L, Finnell RH, Wang H.

Hum Genet. 2018 Mar;137(3):195-202. doi: 10.1007/s00439-017-1864-x. Epub 2018 Feb 8.


Serum homocysteine, arsenic methylation, and arsenic-induced skin lesion incidence in Bangladesh: A one-carbon metabolism candidate gene study.

Niedzwiecki MM, Liu X, Zhu H, Hall MN, Slavkovich V, Ilievski V, Levy D, Siddique AB, Kibriya MG, Parvez F, Islam T, Ahmed A, Navas-Acien A, Graziano JH, Finnell RH, Ahsan H, Gamble MV.

Environ Int. 2018 Apr;113:133-142. doi: 10.1016/j.envint.2018.01.015. Epub 2018 Feb 6.


Maternal report of fever from cold or flu during early pregnancy and the risk for noncardiac birth defects, National Birth Defects Prevention Study, 1997-2011.

Waller DK, Hashmi SS, Hoyt AT, Duong HT, Tinker SC, Gallaway MS, Olney RS, Finnell RH, Hecht JT, Canfield MA; National Birth Defects Prevention Study.

Birth Defects Res. 2018 Mar 1;110(4):342-351. doi: 10.1002/bdr2.1147. Epub 2017 Nov 2.


A missense mutation in TCN2 is associated with decreased risk for congenital heart defects and may increase cellular uptake of vitamin B12 via Megalin.

Li P, Huang L, Zheng Y, Pan X, Peng R, Jiang Y, Finnell RH, Li H, Qiao B, Wang HY.

Oncotarget. 2017 Jul 19;8(33):55216-55229. doi: 10.18632/oncotarget.19377. eCollection 2017 Aug 15.


Regulation of Reduced Folate Carrier (RFC) by Vitamin D Receptor at the Blood-Brain Barrier.

Alam C, Hoque MT, Finnell RH, Goldman ID, Bendayan R.

Mol Pharm. 2017 Nov 6;14(11):3848-3858. doi: 10.1021/acs.molpharmaceut.7b00572. Epub 2017 Sep 26.


Impact of selective serotonin reuptake inhibitors on neural crest stem cell formation.

Vichier-Guerre C, Parker M, Pomerantz Y, Finnell RH, Cabrera RM.

Toxicol Lett. 2017 Nov 5;281:20-25. doi: 10.1016/j.toxlet.2017.08.012. Epub 2017 Aug 24.


Folate-dependent methylation of septins governs ciliogenesis during neural tube closure.

Toriyama M, Toriyama M, Wallingford JB, Finnell RH.

FASEB J. 2017 Aug;31(8):3622-3635. doi: 10.1096/fj.201700092R. Epub 2017 Apr 21.


Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY.

Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13.


Design and Comparative Evaluation of the Anticonvulsant Profile, Carbonic-Anhydrate Inhibition and Teratogenicity of Novel Carbamate Derivatives of Branched Aliphatic Carboxylic Acids with 4-Aminobenzensulfonamide.

Bibi D, Mawasi H, Nocentini A, Supuran CT, Wlodarczyk B, Finnell RH, Bialer M.

Neurochem Res. 2017 Jul;42(7):1972-1982. doi: 10.1007/s11064-017-2216-x. Epub 2017 Mar 9.


Ultrasound-guided spectral photoacoustic imaging of hemoglobin oxygenation during development.

Bayer CL, Wlodarczyk BJ, Finnell RH, Emelianov SY.

Biomed Opt Express. 2017 Jan 10;8(2):757-763. doi: 10.1364/BOE.8.000757. eCollection 2017 Feb 1.


Corrigendum for: Levels of folate receptor autoantibodies in maternal and cord blood and risk of neural tube defects in a Chinese population, 106:685-695 (10.1002/bdra.23517).

Yang N, Wang L, Finnell RH, Li Z, Jin L, Zhang L, Cabrera RM, Ye R, Ren A.

Birth Defects Res A Clin Mol Teratol. 2016 Dec;106(12):1062. doi: 10.1002/bdra.23599. Epub 2016 Dec 9. No abstract available.


Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation.

Chen X, An Y, Gao Y, Guo L, Rui L, Xie H, Sun M, Lam Hung S, Sheng X, Zou J, Bao Y, Guan H, Niu B, Li Z, Finnell RH, Gusella JF, Wu BL, Zhang T.

Hum Mutat. 2017 Apr;38(4):378-389. doi: 10.1002/humu.23153. Epub 2017 Feb 15.


Genomic approaches to the assessment of human spina bifida risk.

Ross ME, Mason CE, Finnell RH.

Birth Defects Res. 2017 Jan 30;109(2):120-128. doi: 10.1002/bdra.23592. Review.


Metabolite profiling of whole murine embryos reveals metabolic perturbations associated with maternal valproate-induced neural tube closure defects.

Akimova D, Wlodarczyk BJ, Lin Y, Ross ME, Finnell RH, Chen Q, Gross SS.

Birth Defects Res. 2017 Jan 30;109(2):106-119. doi: 10.1002/bdra.23583.


Identification of vascular disruptor compounds by analysis in zebrafish embryos and mouse embryonic endothelial cells.

McCollum CW, Conde-Vancells J, Hans C, Vazquez-Chantada M, Kleinstreuer N, Tal T, Knudsen T, Shah SS, Merchant FA, Finnell RH, Gustafsson JÅ, Cabrera R, Bondesson M.

Reprod Toxicol. 2017 Jun;70:60-69. doi: 10.1016/j.reprotox.2016.11.005. Epub 2016 Nov 10.


Genetic analysis of rare coding mutations of CELSR1-3 in congenital heart and neural tube defects in Chinese people.

Qiao X, Liu Y, Li P, Chen Z, Li H, Yang X, Finnell RH, Yang Z, Zhang T, Qiao B, Zheng Y, Wang H.

Clin Sci (Lond). 2016 Dec 1;130(24):2329-2340. doi: 10.1042/CS20160686. Epub 2016 Oct 18.


Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning.

Brzóska HŁ, d'Esposito AM, Kolatsi-Joannou M, Patel V, Igarashi P, Lei Y, Finnell RH, Lythgoe MF, Woolf AS, Papakrivopoulou E, Long DA.

Kidney Int. 2016 Dec;90(6):1274-1284. doi: 10.1016/j.kint.2016.07.011. Epub 2016 Sep 2.


Remembering Edward J. Lammer, MD.

Finnell RH, Shaw GM.

Am J Med Genet A. 2016 Nov;170(11):2767-2768. doi: 10.1002/ajmg.a.37865. Epub 2016 Aug 2. No abstract available.


Levels of folate receptor autoantibodies in maternal and cord blood and risk of neural tube defects in a Chinese population.

Yang N, Wang L, Finnell RH, Li Z, Jin L, Zhang L, Cabrera RM, Ye R, Ren A.

Birth Defects Res A Clin Mol Teratol. 2016 Aug;106(8):685-95. doi: 10.1002/bdra.23517. Epub 2016 May 11. Erratum in: Birth Defects Res A Clin Mol Teratol. 2016 Dec;106(12 ):1062.


New Techniques for the Study of Neural Tube Defects.

Lei Y, Finnell RH.

Adv Tech Biol Med. 2016 Feb;4(1). pii: 157. Epub 2015 Dec 26.


Autoantibodies against homocysteinylated protein in a mouse model of folate deficiency-induced neural tube defects.

Denny KJ, Kelly CF, Kumar V, Witham KL, Cabrera RM, Finnell RH, Taylor SM, Jeanes A, Woodruff TM.

Birth Defects Res A Clin Mol Teratol. 2016 Mar;106(3):201-7. doi: 10.1002/bdra.23483. Epub 2016 Feb 22.

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