Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida.

Birth defects research. Part A, Clinical and molecular teratology - 1 Sept 2013

Agopian A J, Bhalla Angela D, Boerwinkle Eric, Finnell Richard H, Grove Megan L, Hixson James E, Shimmin Lawrence C, Sewda Anshuman, Stuart Colin, Zhong Yu, Zhu Huiping, Mitchell Laura E

Abstract excerpt

BACKGROUND: Based on studies in animals and humans, PAX3 and T (brachyury) are candidate genes for spina bifida. However, neither gene has been definitively identified as a risk factor for this condition. METHODS: Sanger sequencing was used to identify variants in all PAX3 and T exons and promoter regions in 114 spina bifida cases. For known variants, allele frequencies in cases were compared with those from...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brachyury Protein
Share to Fetal Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Odds Ratio

Share to Paired Box Transcription Factors

Share to PAX3 Transcription Factor

Share to Spinal Dysraphism

Share to T-Box Domain Proteins

Share to United States

Source

Open in PubMed Open full text

Identifiers

PMID: 23913553
DOI: 10.1002/bdra.23163
PMCID: PMC3877942

Genes

PAX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida.PMID 23913553Read ↗

Screening for novel PAX3 polymorphisms and risks of spina bifida.Semantic proximity Read ↗

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.Semantic proximity Read ↗

Sequencing Analysis Demonstrates That a Complex Genetic Architecture Contributes to Risk for Spina Bifida.Semantic proximity Read ↗

Rare deleterious variants in GRHL3 are associated with human spina bifida.Semantic proximity Read ↗

Identification of new candidate genes for spina bifida through exome sequencing.Semantic proximity Read ↗

The human T locus and spina bifida risk.Semantic proximity Read ↗

Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinningsSemantic proximity Read ↗

FKBP8 variants are risk factors for spina bifida.Semantic proximity Read ↗

Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.Semantic proximity Read ↗

DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high-risk region for neural tube defects.Semantic proximity Read ↗

Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida.Semantic proximity Read ↗

Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.