Detalhe da pesquisa
1.
The Differential Translation Capabilities of the Human DHFR2 Gene Indicates a Developmental and Tissue-Specific Endogenous Protein of Low Abundance.
Mol Cell Proteomics
; 23(3): 100718, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38224738
2.
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
Hum Mol Genet
; 32(17): 2681-2692, 2023 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37364051
3.
Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.
Hum Mol Genet
; 27(24): 4218-4230, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30189017
4.
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.
J Inherit Metab Dis
; 43(6): 1186-1198, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32743799
5.
Neural tube closure depends on expression of Grainyhead-like 3 in multiple tissues.
Dev Biol
; 435(2): 130-137, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29397878
6.
Diffusion microscopic MRI of the mouse embryo: Protocol and practical implementation in the splotch mouse model.
Magn Reson Med
; 73(2): 731-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24634098
7.
Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in mice.
PLoS Genet
; 8(11): e1003059, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23166514
8.
Nucleotide precursors prevent folic acid-resistant neural tube defects in the mouse.
Brain
; 136(Pt 9): 2836-41, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23935126
9.
Over-expression of Grhl2 causes spina bifida in the Axial defects mutant mouse.
Hum Mol Genet
; 20(8): 1536-46, 2011 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21262862
10.
Folate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain.
Mol Cell Biochem
; 378(1-2): 229-36, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23483428
11.
Is LMNB1 a susceptibility gene for neural tube defects in humans?
Birth Defects Res A Clin Mol Teratol
; 97(6): 398-402, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23733478
12.
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
Am J Hum Genet
; 84(2): 197-209, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19200523
13.
Glycine Cleavage System H Protein Is Essential for Embryonic Viability, Implying Additional Function Beyond the Glycine Cleavage System.
Front Genet
; 12: 625120, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33569080
14.
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
Hum Mol Genet
; 17(14): 2150-9, 2008 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18407919
15.
Neural tube defects induced by folate deficiency in mutant curly tail (Grhl3) embryos are associated with alteration in folate one-carbon metabolism but are unlikely to result from diminished methylation.
Birth Defects Res A Clin Mol Teratol
; 88(8): 612-8, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20589880
16.
Dynamic acetylation profile during mammalian neurulation.
Birth Defects Res
; 112(2): 205-211, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31758757
17.
Cellular mechanisms underlying Pax3-related neural tube defects and their prevention by folic acid.
Dis Model Mech
; 12(11)2019 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636139
18.
Spinal neural tube closure depends on regulation of surface ectoderm identity and biomechanics by Grhl2.
Nat Commun
; 10(1): 2487, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31171776
19.
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
J Clin Endocrinol Metab
; 93(5): 1865-73, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18285410
20.
Formate supplementation enhances folate-dependent nucleotide biosynthesis and prevents spina bifida in a mouse model of folic acid-resistant neural tube defects.
Biochimie
; 126: 63-70, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26924399