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

Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects.

PLoS genetics - 1 Jan 2012

Dennis Jennifer F, Kurosaka Hiroshi, Iulianella Angelo, Pace Jennifer, Thomas Nancy, Beckham Sharon, Williams Trevor, Trainor Paul A

Abstract excerpt

Holoprosencephaly (HPE) is a failure of the forebrain to bifurcate and is the most common structural malformation of the embryonic brain. Mutations in SHH underlie most familial (17%) cases of HPE; and, consistent with this, Shh is expressed in midline embryonic cells and tissues and their derivatives that are affected in HPE. It has long been recognized that a graded series of facial anomalies occurs within the...

Read the complete abstract on PubMed

Topics

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

Share to Acyltransferases
Share to Hedgehog Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Holoprosencephaly

Share to Neural Crest

Share to Neural Tube Defects

Share to Patched-1 Receptor

Share to Patched Receptors

Share to Receptors, Cell Surface

Source

Open in PubMed Open full text

Identifiers

PMID: 23055936
DOI: 10.1371/journal.pgen.1002927
PMCID: PMC3464201

Genes

HHAT
SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects.PMID 23055936Read ↗

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.Semantic proximity Read ↗

Ectopic sonic hedgehog signaling impairs telencephalic dorsal midline development: implication for human holoprosencephaly.Semantic proximity Read ↗

Holoprosencephaly: a paradigm for the complex genetics of brain development.Semantic proximity Read ↗

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.Semantic proximity Read ↗

The role of cholesterol in Shh signaling and teratogen-induced holoprosencephaly.Semantic proximity Read ↗

Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis.Semantic proximity Read ↗

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.Semantic proximity Read ↗

Abnormal sterol metabolism in holoprosencephalySemantic proximity Read ↗

Genetic approaches to understanding brain development: Holoprosencephaly as a modelSemantic proximity Read ↗

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.Semantic proximity Read ↗

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.Semantic proximity Read ↗

SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.Semantic proximity Read ↗

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