Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.

doi:10.1016/j.ajhg.2008.05.012

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Article

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.

American journal of human genetics - 1 Jul 2008

Roessler Erich, Ouspenskaia Maia V, Karkera Jayaprakash D, Vélez Jorge I, Kantipong Amy, Lacbawan Felicitas, Bowers Peter, Belmont John W, Towbin Jeffrey A, Goldmuntz Elizabeth, Feldman Benjamin, Muenke Maximilian

Abstract excerpt

Abnormalities of embryonic patterning are hypothesized to underlie many common congenital malformations in humans including congenital heart defects (CHDs), left-right disturbances (L-R) or laterality, and holoprosencephaly (HPE). Studies in model organisms suggest that Nodal-like factors provide instructions for key aspects of body axis and germ layer patterning; however, the complex genetics of pathogenic gene...

Topics

Amino Acid Sequence
Animals
Body Patterning
Case-Control Studies
Codon
Cohort Studies
DNA Mutational Analysis
Embryo, Nonmammalian
Epidermal Growth Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Forkhead Transcription Factors

GPI-Linked Proteins

Growth Differentiation Factor 1

Heart Defects, Congenital

Holoprosencephaly

Humans

Intercellular Signaling Peptides and Proteins

Membrane Glycoproteins

Models, Biological

Source

Open in PubMed Open full text

Identifiers

PMID: 18538293
DOI: 10.1016/j.ajhg.2008.05.012
PMCID: PMC2443854

Genes

NODAL
FOXH1
CFC1
GDF1
SMAD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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