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| 1 | Threshold for neural tube defect risk by accumulated singleton loss-of-function variants显示文摘 | Zhongzhong Chen Yunping Lei Yufang Zheng Vanessa Aguiar-Pulido M. Elizabeth Ross Rui Peng Li Jin Ting Zhang Richard H. Finnell Hongyan Wang | 2018 | Cell Research2018，28，10： | 3 |
| 2 | DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway显示文摘Wnt signaling pathways,including the canonical Wnt/β-catenin pathway,planar cell polarity pathway,and Wnt/Ca2+signaling pathway,play important roles in neural development during embryonic stages.The DVL genes encode the hub proteins for Wnt signaling pathways.The mutations in DVL2 and DVL3 were identified from patients with neural tube defects(NTDs),but their functions in the pathogenesis of human neural diseases remain elusive.Here,we sequenced the coding regions of three DVL genes in 176 stillborn or miscarried fetuses with NTDs or Dandy-Walker malformation(DWM)and 480 adult controls from a Han Chinese population.Four rare mutations were identified:DVL1 p.R558 H,DVL1 p.R606 C,DVL2 p.R633 W,and DVL3 p.R222 Q.To assess the effect of these mutations on NTDs and DWM,various functional analyses such as luciferase reporter assay,stress fiber formation,and in vivo teratogenic assay were performed.The results showed that the DVL2 p.R633 W mutation destabilized DVL2 protein and upregulated activities for all three Wnt signalings(Wnt/β-catenin signaling,Wnt/planar cell polarity signaling,and Wnt/Ca2+signaling)in mammalian cells.In contrast,DVL1 mutants(DVL1 p.R558 H and DVL1 p.R606 C)decreased canonical Wnt/β-catenin signaling but increased the activity of Wnt/Ca2+signaling,and DVL3 p.R222 Q only decreased the activity of Wnt/Ca2+signaling.We also found that only the DVL2 p.R633 W mutant displayed more severe teratogenicity in zebrafish embryos than wild-type DVL2.Our study demonstrates that these four rare DVL mutations,especially DVL2 p.R633 W,may contribute to human neural diseases such as NTDs and DWM by obstructing Wnt signaling pathways. | Lingling Liu Weiqi Liu Yan Shi Ling Li Yunqian Gao Yunping Lei Richard Finnell Ting Zhang Feng Zhang Li Jin Huili Li Wufan Tao Hongyan Wang | 2020 | Journal of Genetics and Genomics2020，47，6： | 2 |
| 3 | Non-closure of defects during laparoseopic Roux-en-Y gastric bypass 显示文摘 | Finnell CW Madan AK Tichansky DS | 2007 | Obesity surgery2007，17，： | 1 |
| 4 | Identification of two putative novel folate receptor genes in humans and mouse显示文摘 | Eudy JD Finnell RH | 2000 | Gene2000，258，12： | 1 |
| 5 | Expression of CD44 variant isoforms CD44v3 and CD44v6 is increased on T cells from patients with systemic lupus erythematosus and is correlated with disease activity 显示文摘 | Crispin JC Keenan BT Finnell MD | 2010 | Arthritis Rheum2010，62，5： | 1 |
| 6 | Spina bifida phen6types in infants or fetuses of obese mothers显示文摘 | SHAW GM TODOROFF K FINNELL RH | 2000 | Teratology2000，61，： | 1 |
| 7 | Identification of two putative novel folate receptor genes in humans and mouse 显示文摘 | Spiegelstein O Eudy JD Finnell RH | 2000 | Gene2000，258，12： | 1 |
| 8 | Applying the transtheoretical model to health care proxy completion 显示文摘 | Finnell D Wu Y W Jezewski M A | 2011 | Med Decis Making2011，31，2： | 1 |
| 9 | Spina bifida phenotypes in infants or fetuses of obese mothers显示文摘 | Shaw G M Todoroff K Finnell R H | 2000 | Teratology2000，61，5： | 1 |
| 10 | Ethanol decreases glial derived neurotrophic factor(GDNF)protein release but not mRNA expression and increases GDNF-stimulated shc phosphorylation in the developing cerebellum显示文摘 | Mc Alhany RE Miranda RC Finnell RH | 1999 | Alcohol Clin Exp Res1999，23，10： | 1 |
| 11 | Role of arsenic as a reproductive toxin with particular attention to neural tube defects显示文摘 | Shalat SL Walker DB Finnell RH | 1996 | Toxicol Environ Health1996，48，3： | 1 |
| 12 | Role of arsenic as a reproductive toxin with particular attention to neural tube defects 显示文摘 | Shalat SL Walk DB Finnell RH | 1996 | J Toxicol Environ Health1996，48，： | 1 |
| 13 | Community clinica data exchange for emergency medicine patients显示文摘 | Finnell JT Overhage JM Dexter PR | 2003 | AMIA Annu Symp Proe2003，，： | 1 |
| 14 | Does global hypomethylation contribute to susceptibility to neural tube defects? 显示文摘 | Finnell R H Blom H J Shaw G M | 2010 | Am J Clin Nutr2010，91，5： | 1 |
| 15 | Ossifying fibromyxoid tumor of soft parts: a clinicopathologic and immunohistochemical study of 104 cases with long-term follow-up and a critical review of the lit- erature显示文摘 | Miettinen M Finnell V Fetsch J F | 2008 | Am J Surg Pathol2008，32，7： | 1 |
| 16 | Choline and risk of neural tube defects in a folate-fortified population显示文摘 | Shaw GM Finnell RH Blom HJ | 2009 | Epidemiology2009，20，5： | 1 |
| 17 | Folate pathway gene alterations in patients with neural tube defects显示文摘 | De Marco P Moroni A Mercllo E de Franchis R Andreussi L Finnell RH | 2000 | Am J Med Genet2000，95，3： | 1 |
| 18 | Infant C677T mutation in MTI-IFR, maternal periconceptional vitamin use, and cleft lip显示文摘 | Shaw GM Rozen R Finnell RH | 1998 | Am J Med Genet1998，80，3： | 1 |
| 19 | Ossifying fibromyxoid tumor of soft parts-a clinicopathologic and immunohistochemical study of 104 cases with long-term follow-up and a critical review of the literature显示文摘 | Miettinen M Finnell V Fetsch J F | 2008 | Am J Surg Pathol2008，32，7： | 1 |
| 20 | Role of Folbpl in the regional regulation of apoptosis and cell proliferation in the developing neural tube and craniofacies显示文摘 | Tang LS Santillano DR Wlodarczyk BJ Miranda RC Finnell RH | 2005 | Am J Med Genet C Semin Med Genet2005，135，1： | 1 |
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