Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.

scientific article published on 22 January 2018

Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects. is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1100563420
P356DOI10.1038/S41431-017-0025-Y
P2888exact matchhttps://scigraph.springernature.com/pub.10.1038/s41431-017-0025-y
P8608Fatcat IDrelease_ffdxqlxsufaw7iaaftgkjs2fsa
P932PMC publication ID5838979
P698PubMed publication ID29358613

P2093author name stringCharles E Schwartz
Emil Alexov
Catherine J Spellicy
Michael J Friez
Caleb Bupp
Jane Dean
Joy Norris
Paul Mester
Renee Bend
Roger S Stevenson
Tracy Reynolds
Yunhui Peng
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When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina.Q53796198
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.Q55078805
Exencephaly and hydrocephaly in mice with targeted modification of the Apolipoprotein B (Apob) geneQ58320385
Epidemiology of neural tube defectsQ81597065
Decline in Prevalence of Neural Tube Defects in a High-Risk Region of the United StatesQ22305967
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canalQ24307966
Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian developmentQ24317252
Wnt signal transduction pathwaysQ24641814
Maspin overexpression modulates tumor cell apoptosis through the regulation of Bcl-2 family proteinsQ24810721
I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structureQ24812223
A method and server for predicting damaging missense mutationsQ27860835
Apaf-1 deficiency and neural tube closure defects are found in fog miceQ28512476
Neural tube defects and neuroepithelial cell death in Tulp3 knockout miceQ28512669
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithmQ29547194
Reduced apoptosis and cytochrome c-mediated caspase activation in mice lacking caspase 9Q29618617
SDM--a server for predicting effects of mutations on protein stability and malfunctionQ30402863
Putative oncogene Brachyury (T) is essential to specify cell fate but dispensable for notochord progenitor proliferation and EMT.Q33275963
Live imaging of apoptosis in a novel transgenic mouse highlights its role in neural tube closure.Q34097412
Regulation of the Apaf-1-caspase-9 apoptosomeQ34129476
LOVD v.2.0: the next generation in gene variant databasesQ34180504
Caspases: keys in the ignition of cell deathQ35021904
Embryology of neural tube developmentQ36087221
Mouse mutants with neural tube closure defects and their role in understanding human neural tube defectsQ36687333
The relationship between sonic Hedgehog signaling, cilia, and neural tube defectsQ36792187
Apoptosis is not required for mammalian neural tube closure.Q37208642
Neural tube defects, folic acid and methylationQ37236998
Not all cases of neural-tube defect can be prevented by increasing the intake of folic acidQ37350105
Folic acid and other potential measures in the prevention of neural tube defectsQ37962225
Genetic evidence in planar cell polarity signaling pathway in human neural tube defectsQ38168793
SAAFEC: Predicting the Effect of Single Point Mutations on Protein Folding Free Energy Using a Knowledge-Modified MM/PBSA ApproachQ39857355
Differential requirement for caspase 9 in apoptotic pathways in vivo.Q41015558
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferationQ41609169
mCSM: predicting the effects of mutations in proteins using graph-based signatures.Q41877619
DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach.Q41886851
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndromeQ42563242
P4510describes a project that usesImageJQ1659584
P921main subjectapoptotic processQ14599311
P577publication date2018-01-22
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleKey apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.

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cites work (P2860)
Q92874768A Cell's Fate: An Overview of the Molecular Biology and Genetics of Apoptosis
Q64273189Structural Perspective on Revealing and Altering Molecular Functions of Genetic Variants Linked with Diseases

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