Birth Defects Research Part A: Clinical and Molecular Teratology

Cover image for Vol. 103 Issue 5

Edited By: Michel Vekemans

Impact Factor: 2.211

ISI Journal Citation Reports © Ranking: 2013: 27/41 (Developmental Biology); 48/87 (Toxicology)

Online ISSN: 1542-0760

Associated Title(s): Birth Defects Research Part B: Developmental and Reproductive Toxicology, Birth Defects Research Part C: Embryo Today: Reviews

Featured

  • G-protein-coupled receptors and localized signaling in the primary cilium during ventral neural tube patterning

    G‐protein‐coupled receptors and localized signaling in the primary cilium during ventral neural tube patterning

    Ventral neural tube patterning in wild-type and mutant embryos. Neural tube patterning in the caudal neural tubes of wild-type, IFT-A (Ift122sopb) (Tran et al., ; Ocbina et al., ; Qin et al., ; Liem et al., ), Gpr161 (Mukhopadhyay et al., ), Sufu (Svard et al., ; Wang et al., ), Gnas (Regard et al., ), PKA-null (Tuson et al., ), Dync2h1lln (Huangfu and Anderson, ), Kif3a (Huangfu et al., ), and Shh (Chiang et al., ) mutants are shown. Patterning in Tulp3 mutants (E14.5 lethal) is similar to Ift122sopb mutants (Norman et al., ; Patterson et al., ). Patterning in the IFT-B mutants (Ift172wim, Ift88polaris) is similar to Kif3a mutants. Ift172wim and Ift88polaris are E10.5 to E11.5 and E12.5 to 13.5 lethal, respectively. Ventral is to the bottom. FP, floor plate; NT, notochord.

  • Interaction between the SLC19A1 gene and maternal first trimester fever on offspring neural tube defects

    Interaction between the SLC19A1 gene and maternal first trimester fever on offspring neural tube defects

    The restriction fragment length polymorphism gel of SLC19A1 rs1051266 genotyping. Homozygote AA (162 bp, 68 bp), homozygote GG (125 bp, 68 bp, 37 bp), and heterozygote GA (162 bp, 125 bp, 68 bp, 37 bp).

  • Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects

    Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects

    Functional validation of rare variants detected in DIVERSIN in NTD patients and controls using JNK-AP-1 responsive and TCF/LEF-1 responsive Wnt/β-catenin and reporter assays. A,B: JNK-dependent AP1activity was significantly decreased in cells transfected with each of the DIVp.Pro548Leu and DIVp.Arg632His cDNAs, as compared to wild-type DIVERSIN (A). This activity was not affected in HEK cells transfected with either DIVp.Arg587Gln or DIVp.Val614Ile from NTD patients (A) or DIVp.Leu169Phe and DIVp.Val466Gly cDNAs from controls (B). C,D: TCF/LEF-1 activity in the presence of Wnt3a was significantly inhibited by co-transfection of DIVERSIN with DVL3. Co-transfection of each DIVp.Pro548Leu and DIVp.Arg632His with DVL3 in the presence of Wnt3a significantly reduced this inhibitory effect (C). DIVp.Leu169Phe and DIVp.Val466Gly cDNAs from NTD patients (C) or DIVp.Leu169Phe and DIVp.Val466Gly cDNAs from controls (D) behaved like the wild-type DIV in the TCF/LEF-1 reporter assay. E,F: Representative western blots of HEK cells transfected with each of the myc-tagged DIVERSIN variants detected in NTD patients (E) and in controls (F) show protein expression levels that were comparable to the wild-type. Statistical analysis was done using the student's t test; *p > 0.05.

  • DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high-risk region for neural tube defects

    DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high‐risk region for neural tube defects

    Schematic diagram of FZD3 promoter R2 region indicating putative transcription factor-binding sites. We divided the FZD3 promoter from −500 bp to −2400 bp into three subregions (R1, R2 and R3) according to the level of methylation in the normal group. The methylation status of CpG nucleotides in the R2 region (−950 bp to −1450 bp, 5.2–20.3%) was intermediate between R1 and R3. The R2 region covered the possible FZD3 promoter region (−1275 bp to −1325 bp) predicted by the Neural Network Promoter Prediction tool (www.fruitfly.org/seq_tools/promoter.html). The human FZD3 promoter R2 region spans positions −950 bp to −1450 bp with respect to the transcription start site. The putative transcription factor-binding sites are marked.

  • Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine

    Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine

    A series of axial views, from superior to inferior, showing the absence of most of the cerebral cortex, with no white matter or corpus callosum present. There is a small amount of cortex bilaterally from the occipital lobes (designated in 2) and posteroinferior temporal lobes (designated in 4).

  • Expanding the mutational spectrum associated to neural tube defects: Literature revision and description of novel VANGL1 mutations

    Expanding the mutational spectrum associated to neural tube defects: Literature revision and description of novel VANGL1 mutations

    VANGL1 new missense variants. A: Electrophoregrams showing the nucleotide changes. B: Partial alignment of human VANGL1 sequence with orthologues from other species. Residues conserved between VANGL and other family members are black highlighted. Ensemble accession numbers of human VANGL1 ENST00000355485; Ptroglodyte ENSPTRG00000001147; Mmulatta ENSMMUG00000008967; Fcatus ENSFCAG00000010493; Mus Musculus ENSMUSG00000027860; Ggallus ENSGALG00000015025; Trubripes ENSTRUG00000003698; Drerio ENSDARG00000004305; Celegans B0410.2.WT: wild-type sequence; MT: mutant sequence. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]

  • G‐protein‐coupled receptors and localized signaling in the primary cilium during ventral neural tube patterning
  • Interaction between the SLC19A1 gene and maternal first trimester fever on offspring neural tube defects
  • Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects
  • DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high‐risk region for neural tube defects
  • Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine
  • Expanding the mutational spectrum associated to neural tube defects: Literature revision and description of novel VANGL1 mutations

Recently Published Issues

See all

Special Issue: Abstracts from the 2nd International Joined OTIS - ENTIS Conference

NA

Open Access Articles in BDRA: Clinical and Molecular Teratology

Click below to read this OnlineOpen content in BDRA: Clinical and Molecular Teratology for FREE:

Corticosteroid use and risk of orofacial clefts
Hildur Skuladottir, Allen J. Wilcox, Chen Ma, Edward J. Lammer, Sonja A. Rasmussen, Martha M. Werler, Gary M. Shaw, Suzan L. Carmichael
Volume 100, Issue 6, June 2014

Nuclear factor-kappa-B signaling in lung development and disease: One pathway, numerous functions
Cristina M. Alvira
Volume 100, Issue 3, March 2014

Sex prevalence of major congentical anomalies in the United Kingdom: A national population-based study and international comparison meta-analysis
Rachel Sokal, Laila J. Tata, Kate M. Fleming
Volume 100, Issue 2, February 2014

Knowledge and periconceptual use of folic acid for the prevention of neural tube defects in ethnic communities in the United Kingdom: Systematic review and meta-analysis
Jordana N. Peake, Andrew J. Copp, Jill Shawe
Volume 97, Issue 7, July 2013

5 Year Impact Factor announced: 2.666!

5 Year Impact Factor announced: 2.666!

Birth Defects Research Distinguished Scholar AwardsCongratulations to Dr. Bengt Källen, the winner of the Birth Defects Research Distinguished Scholar Award for his paper in Birth Defects Research: Part A: In vitro fertilization (IVF) in Sweden: Risk for congenital malformations after different IVF methods. Details of the Award can be read here.

Now in EarlyView

Now Available Online:

Prevention of orofacial clefts caused by smoking: Implications of the Surgeon General's report
Margaret A. Honein, Owen Devine, Scott D. Grosse and Jennita Reefhuis

Immortal time bias in observational studies of drug effects in pregnancy
Ilan Matok, Laurent Azoulay, Hui Yin and Samy Suissa

Mitochondrial one-carbon metabolism and neural tube defects
Jessica Momb and Dean R. Appling

Limb-body wall defect: Experience of a reference service of fetal medicine from Southern Brazil
Sibele Nascimento de Aquino, Ryuichi Hoshi, Elizabete Bagordakis, Maria Giulia Rezende Pucciarelli, Ana Camila Messetti, Helenara Moreira, Andreia Bufalino, Andréa Borges, Ana Lucia Rangel, Luciano Abreu Brito, Mario Sergio Oliveira Swerts, Hercilio Martelli-Junior, Sergio R. Line, Edgard Graner, Sílvia R.A. Reis, Maria Rita Passos-Bueno and Ricardo D. Coletta

Population-based study to determine mortality in spina bifida: New York State congenital malformations registry, 1983 to 2006
Vijaya Kancherla, Charlotte M. Druschel and Godfrey P. Oakley Jr.


SEARCH

SEARCH BY CITATION