Literature DB >> 29855149

Novel mutation in SP2 in a Chinese pedigree with Neural tube defects.

Bei-Hong Liu1,2, Jing Wang3, Cong-Min Li4, Lin Qi5, Yan-Hong Song5, Hong Pan2, Teng-Yan Li2, Bin-Bin Wang1,2.   

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Year:  2018        PMID： 29855149      PMCID： PMC6490084          DOI： 10.1111/cns.12988

Source DB:  PubMed          Journal:  CNS Neurosci Ther        ISSN： 1755-5930            Impact factor:   5.243


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  11 in total

Review 1.  Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects.

Authors:  Muriel J Harris; Diana M Juriloff
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2007-03

2.  Upper extremity anomalies in Pfeiffer syndrome and mutational correlations.

Authors:  Felecia E Cerrato; Laura C Nuzzi; Todd A Theman; Amir Taghinia; Joseph Upton; Brian I Labow
Journal:  Plast Reconstr Surg       Date:  2014-05       Impact factor: 4.730

3.  Transcription of mouse Sp2 yields alternatively spliced and sub-genomic mRNAs in a tissue- and cell-type-specific fashion.

Authors:  Haifeng Yin; Teresa D Nichols; Jonathan M Horowitz
Journal:  Biochim Biophys Acta       Date:  2010-03-29

4.  Neural development is dependent on the function of specificity protein 2 in cell cycle progression.

Authors:  Huixuan Liang; Guanxi Xiao; Haifeng Yin; Simon Hippenmeyer; Jonathan M Horowitz; H Troy Ghashghaei
Journal:  Development       Date:  2013-02-01       Impact factor: 6.868

5.  Fetal DNA hypermethylation in tight junction pathway is associated with neural tube defects: A genome-wide DNA methylation analysis.

Authors:  Linlin Wang; Shanshan Lin; Ji Zhang; Tian Tian; Lei Jin; Aiguo Ren
Journal:  Epigenetics       Date:  2017-01-06       Impact factor: 4.528

Review 6.  Folate and vitamin B12.

Authors:  J M Scott
Journal:  Proc Nutr Soc       Date:  1999-05       Impact factor: 6.297

7.  A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.

Authors:  M Muenke; U Schell; A Hehr; N H Robin; H W Losken; A Schinzel; L J Pulleyn; P Rutland; W Reardon; S Malcolm
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

8.  Specificity protein 2 (Sp2) is essential for mouse development and autonomous proliferation of mouse embryonic fibroblasts.

Authors:  Frank Baur; Kerstin Nau; Dennis Sadic; Lena Allweiss; Hans-Peter Elsässer; Nynke Gillemans; Ton de Wit; Imme Krüger; Marion Vollmer; Sjaak Philipsen; Guntram Suske
Journal:  PLoS One       Date:  2010-03-08       Impact factor: 3.240

9.  Sp2 DNA binding activity and trans-activation are negatively regulated in mammalian cells.

Authors:  K Scott Moorefield; Sarah J Fry; Jonathan M Horowitz
Journal:  J Biol Chem       Date:  2004-01-15       Impact factor: 5.157

Review 10.  Genetics of human neural tube defects.

Authors:  Nicholas D E Greene; Philip Stanier; Andrew J Copp
Journal:  Hum Mol Genet       Date:  2009-10-15       Impact factor: 6.150
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