(Q34193097)

31 July 2017

title

Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome) (English)

1 reference

31 July 2017

main subject

focal dermal hypoplasia

1 reference

Timothy M Shaver

2

0 references

author name string

Wei Liu

1

1 reference

31 July 2017

Alfred Balasa

3

1 reference

31 July 2017

M Cecilia Ljungberg

4

1 reference

31 July 2017

Xiaoling Wang

5

1 reference

31 July 2017

Shu Wen

6

1 reference

31 July 2017

Hoang Nguyen

7

1 reference

31 July 2017

Ignatia B Van den Veyver

8

1 reference

31 July 2017

language of work or name

English

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publication date

6 March 2012

1 reference

31 July 2017

1 reference

31 July 2017

volume

7

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31 July 2017

issue

3

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31 July 2017

page(s)

e32331

1 reference

Creative Commons Attribution 4.0 International

31 July 2017

copyright license

start time

6 March 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3295752/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Differential palmit(e)oylation of Wnt1 on C93 and S224 residues has overlapping and distinct consequences

5 July 2018

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Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome

5 July 2018

1 reference

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The lineage contribution and role of Gbx2 in spinal cord development

5 July 2018

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5 July 2018

1 reference

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Fatty acid modification of Wnt1 and Wnt3a at serine is prerequisite for lipidation at cysteine and is essential for Wnt signalling.

5 July 2018

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5 July 2018

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beta-Catenin has sequential roles in the survival and specification of ventral dermis

5 July 2018

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5 July 2018

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Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

5 July 2018

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Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

5 July 2018

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5 July 2018

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Drosophila wnt-1 undergoes a hydrophobic modification and is targeted to lipid rafts, a process that requires porcupine

5 July 2018

1 reference

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Wnt proteins are lipid-modified and can act as stem cell growth factors

5 July 2018

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5 July 2018

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Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome

5 July 2018

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Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution

5 July 2018

1 reference

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Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine

5 July 2018

1 reference

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5 July 2018

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The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family

5 July 2018

1 reference

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5 July 2018

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The magical touch: genome targeting in epidermal stem cells induced by tamoxifen application to mouse skin

5 July 2018

1 reference

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5 July 2018

1 reference

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Specification of the anterior hindbrain and establishment of a normal mid/hindbrain organizer is dependent on Gbx2 gene function

5 July 2018

1 reference

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The segment polarity gene porcupine encodes a putative multitransmembrane protein involved in Wingless processing

5 July 2018

1 reference

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5 July 2018

1 reference

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Wnt-3a regulates somite and tailbud formation in the mouse embryo

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295752

Focal dermal hypoplasia syndrome. Case report and literature review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295752

Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295752

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.

5 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032331

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032331

PORCN gene mutations and the protean nature of focal dermal hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032331

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032331

PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032331

Novel PORCN mutations in focal dermal hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032331

Drosophila segment polarity gene product porcupine stimulates the posttranslational N-glycosylation of wingless in the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032331

Porcupine homolog is required for canonical Wnt signaling and gastrulation in mouse embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032331

Changing requirements for Gbx2 in development of the cerebellum and maintenance of the mid/hindbrain organizer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032331

Beta-catenin-mediated signaling and cell adhesion in postgastrulation mouse embryos.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295752

Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome

28 October 2018

3 references

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032331

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295752

28 October 2018

12 December 2020

Focal dermal hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3295752

Expression of Cre recombinase in the developing mouse limb bud driven by aPrxl enhancer

28 October 2018

1 reference

12 December 2020

Focal dermal hypoplasia syndrome. An update

1 reference

12 December 2020

Importance of PORCN and Wnt signaling pathways in embryogenesis

1 reference

12 December 2020

A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient

1 reference

12 December 2020

Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome

1 reference

12 December 2020

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0032331

Identifiers

DOI

1 reference

31 July 2017

0 references

1 reference

31 July 2017

1 reference