(Q21563367)

English

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

scientific article

Mutations in Hedgehog Acyltransferase (Hhat) Perturb Hedgehog Signaling, Resulting in Severe Acrania-Holoprosencephaly-Agnathia Craniofacial Defects

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scholarly article

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

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holoprosencephaly

1 reference

based on heuristic

inferred from title

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author name string

Jennifer F Dennis

1

author given names

Jennifer F

author last names

Dennis

1 reference

2 September 2022

Hiroshi Kurosaka

2

author given names

Hiroshi

author last names

Kurosaka

1 reference

2 September 2022

Angelo Iulianella

3

author given names

Angelo

author last names

Iulianella

1 reference

2 September 2022

Jennifer Pace

4

author given names

Jennifer

author last names

Pace

1 reference

2 September 2022

Nancy Thomas

5

author given names

Nancy

author last names

Thomas

1 reference

2 September 2022

Sharon Beckham

6

author given names

Sharon

author last names

Beckham

1 reference

2 September 2022

Trevor Williams

7

author given names

Trevor

author last names

Williams

1 reference

2 September 2022

Paul A Trainor

8

0 references

language of work or name

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publication date

2012

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8

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e1002927

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10

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copyright license

Creative Commons Attribution 4.0 International

4 October 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

1 reference

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19 March 2017

Generalized lacZ expression with the ROSA26 Cre reporter strain

1 reference

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19 March 2017

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

19 March 2017

Palmitoylation is required for the production of a soluble multimeric Hedgehog protein complex and long-range signaling in vertebrates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

19 March 2017

Fate of the mammalian cardiac neural crest

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

19 March 2017

Identification of a palmitic acid-modified form of human Sonic hedgehog

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

19 March 2017

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

19 March 2017

Cholesterol modification of hedgehog signaling proteins in animal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

19 March 2017

The mouse Fgf8 gene encodes a family of polypeptides and is expressed in regions that direct outgrowth and patterning in the developing embryo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

19 March 2017

Sonic hedgehog is essential for first pharyngeal arch development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

19 March 2017

Threshold-specific requirements for Bmp4 in mandibular development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

19 March 2017

Differential expression of Sonic hedgehog along the anterior-posterior axis regulates patterning of pharyngeal pouch endoderm and pharyngeal endoderm-derived organs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

19 March 2017

Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

19 March 2017

Altered neural cell fates and medulloblastoma in mouse patched mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

19 March 2017

Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

19 March 2017

Developmental regulation of the growth plate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

7 April 2017

Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

7 April 2017

Hedgehog and Bmp genes are coexpressed at many diverse sites of cell-cell interaction in the mouse embryo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

7 April 2017

Activation of Erk by sonic hedgehog independent of canonical hedgehog signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

Spatial and temporal analysis of gene expression during growth and fusion of the mouse facial prominences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

Artificial chromosome-based transgenes in the study of genome function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

An early role for sonic hedgehog from foregut endoderm in jaw development: ensuring neural crest cell survival

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

Recent advances in craniofacial morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

Frontonasal process-specific disruption of AP-2alpha results in postnatal midfacial hypoplasia, vascular anomalies, and nasal cavity defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

Sonic hedgehog rescues cranial neural crest from cell death induced by ethanol exposure.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

Teratogenesis of holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

Skinny hedgehog, an acyltransferase required for palmitoylation and activity of the hedgehog signal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

Enhanced potency of human Sonic hedgehog by hydrophobic modification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

Mutations in holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

Genetics of ventral forebrain development and holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

Cre-mediated gene inactivation demonstrates that FGF8 is required for cell survival and patterning of the first branchial arch

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

Introduction of a rabbit beta-globin gene into the mouse germ line

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

12 September 2017

THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

30 May 2018

Inhibition of sonic hedgehog signaling in vivo results in craniofacial neural crest cell death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

30 May 2018

Cooperation of BMP7 and SHH in the induction of forebrain ventral midline cells by prechordal mesoderm.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

30 May 2018

Spatial and temporal distribution of Indian hedgehog mRNA in the embryonic mouse mandible.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

30 May 2018

Absence of the lateral philtral ridges: a clue to the structural basis of the philtrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

30 May 2018

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

30 May 2018

The control of avian cephalic neural crest cytodifferentiation. I. Skeletal and connective tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

30 May 2018

Indian hedgehog positively regulates calvarial ossification and modulates bone morphogenetic protein signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

29 November 2018

A SHH-responsive signaling center in the forebrain regulates craniofacial morphogenesis via the facial ectoderm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

29 November 2018

Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

29 November 2018

Sonic hedgehog in the pharyngeal endoderm controls arch pattern via regulation of Fgf8 in head ectoderm.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

29 November 2018

Molecular interactions coordinating the development of the forebrain and face.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

29 November 2018

Identification and regulation of tissue‐specific cis‐acting elements associated with the human AP‐2α gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

29 November 2018

Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

29 November 2018

Rasp, a putative transmembrane acyltransferase, is required for Hedgehog signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

29 November 2018

Distinct roles of Central missing and Dispatched in sending the Hedgehog signal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

29 November 2018

Sightless has homology to transmembrane acyltransferases and is required to generate active Hedgehog protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

29 November 2018

Fgf-8 determines rostral-caudal polarity in the first branchial arch.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

29 November 2018

Bone morphogenetic protein-2 and -4 expression during murine orofacial development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

29 November 2018

Midline signalling is required for Pax gene regulation and patterning of the eyes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464201

29 November 2018

Holoprosencephaly in infants of diabetic mothers

1 reference

https://pubmed.ncbi.nlm.nih.gov/23055936

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transgenic animals

1 reference

https://pubmed.ncbi.nlm.nih.gov/23055936

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PGEN.1002927

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