Closing in on mechanisms of open neural tube defects

S Lee, JG Gleeson - Trends in neurosciences, 2020 - cell.com
… plate to complete the developmental transition to a neural tube. NTDs are the … Whole
genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes

Exploring research hotspots and future directions in neural tube defects field by bibliometric and bioinformatics analysis

R Cao, Y Su, J Li, R Ao, X Xu, Y Liang, Z Liu… - Frontiers in …, 2024 - frontiersin.org
… A total of 201 SNP information were extracted … revealed the characteristics of gene enrichment
result in this research field. Because of its relatively uniform distribution on chromosomes

Genome-wide identification of Chiari malformation type I associated candidate genes and chromosomal variations

T AvŞar, Ş Çaliş, B Yilmaz, GD Otluoğlu… - Turkish Journal of …, 2020 - journals.tubitak.gov.tr
… Therefore, in the current study we aim to reveal CMI-… CMI can be classified as an neural tube
defect (NTD) in some cases. … T-type calcium channel regulation of neural tube closure and …

Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects

E Oxman, H Li, HY Wang, IE Zohn - Human Genetics, 2024 - Springer
… the complete failure of neural tube closure along the entire … mutagenesis screen to identify
genes required for neural tube … pLDDT scores reveal metrics for determining the tolerance of …

[图书][B] Development and Validation of the Human Rosette Array for Neural Tube Defect Risk Screening

BF Lundin - 2024 - search.proquest.com
… Existing animal models of NTDs have revealed over 400 … the full CNS neuraxis for an
effective model of neural tube … Use of the culture platform for DNT screen validation involved …

Genome-wide association study of population-standardised cognitive performance phenotypes in a rural South African community

CC Soo, JT Brandenburg, A Nebel, S Tollman… - Communications …, 2023 - nature.com
… a near genome-wide significant association on chromosome 6 (… in neural tube closure and
deficits result in a range of neural … b shows a PCA comparison of our study participants prior to …

Genome-wide association analysis explores the genetic loci of amino acid content in duck's breast muscle

R Wang, Y Lu, J Qi, Y Xi, Z Shen, G Twumasi, L Bai… - BMC genomics, 2024 - Springer
… study (GWAS) can be used to screen candidate loci … In this study, GWAS analysis found a
total of 28 significant SNPs … chromosomes, and the y-axis shows the − Log 10 P values for the …

Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analyses

NS Sahajpal, H Barseghyan, R Kolhe, A Hastie… - Genes, 2021 - mdpi.com
… Screening for open neural tube defects and chromosomal … of NIPT assays as a genome-wide
screen). Taken together, … the chromosome 21 gain, the right panel shows the whole

… markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association …

V Arunachalam, R Lea, W Hoy, S Lee, S Mott… - Genome Medicine, 2024 - Springer
… To obtain a complete dataset, we utilized the multivariate … on chromosome 15, and indicates
that there is a cluster of … in the GWAS Catalog, this analysis revealed that none of the known …

Genome-wide association study identifies genomic regions associated with key reproductive traits in Korean Hanwoo cows

MA Haque, YM Lee, JJ Ha, S Jin, B Park, NY Kim… - BMC genomics, 2024 - Springer
… This analysis revealed a clear genotype cluster in the dataset, … In total, 38 SNPs were identified
across all 29 BTA (Table 2; … The GWAS revealed five significant chromosomal regions in …