(Q34505676)

2 August 2017

title

A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis (English)

1 reference

2 August 2017

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congenital ichthyosis

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1 reference

Jianning Tao

1

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Paul A Overbeek

object named as

Paul A Overbeek

7

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Jennifer L. Moran

object named as

Jennifer L Moran

4

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Dennis R Roop

6

object named as

Dennis R Roop

1 reference

2 August 2017

2

Maranke I Koster

1 reference

2 August 2017

Wilbur Harrison

3

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2 August 2017

David R Beier

5

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2 August 2017

language of work or name

English

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publication date

30 November 2012

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2 August 2017

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2 August 2017

volume

7

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2 August 2017

issue

11

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2 August 2017

page(s)

e50634

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Creative Commons Attribution 4.0 International

2 August 2017

copyright license

start time

30 November 2012

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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GRHL3/GET1 and trithorax group members collaborate to activate the epidermal progenitor differentiation program

7 July 2018

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Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells

7 July 2018

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Role of fatty acid transporters in epidermis: Implications for health and disease

7 July 2018

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FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

7 July 2018

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Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

7 July 2018

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Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome

7 July 2018

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The epidermis of grhl3-null mice displays altered lipid processing and cellular hyperproliferation

7 July 2018

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The skin: an indispensable barrier

7 July 2018

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Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects

7 July 2018

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The stratum corneum: a double paradox

7 July 2018

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Overexpression of E2F5/p130, but not E2F5 alone, can inhibit E2F-induced cell cycle entry in transgenic mice

7 July 2018

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BMP signaling in dermal papilla cells is required for their hair follicle-inductive properties

7 July 2018

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Functional domains of the fatty acid transport proteins: studies using protein chimeras

7 July 2018

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Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

7 July 2018

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Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics

7 July 2018

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Very-long-chain acyl-CoA synthetases

7 July 2018

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Fatty acid transport protein 4 is the principal very long chain fatty acyl-CoA synthetase in skin fibroblasts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

Fatty acid transport proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

Keratinocyte-specific expression of fatty acid transport protein 4 rescues the wrinkle-free phenotype in Slc27a4/Fatp4 mutant mice

7 July 2018

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Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse

7 July 2018

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Disturbed epidermal structure in mice with temporally controlled fatp4 deficiency

7 July 2018

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Chick delta1-crystallin enhancer influences mouse alphaA-crystallin promoter activity in transgenic mice.

7 July 2018

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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

7 July 2018

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p63 is the molecular switch for initiation of an epithelial stratification program

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

Targeted deletion of fatty acid transport protein-4 results in early embryonic lethality

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

The development of mouse vibrissae in vivo and in vitro.

7 July 2018

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Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

Inhibition of Bmp signaling affects growth and differentiation in the anagen hair follicle

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

The biology of hair follicles

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

p63 is a p53 homologue required for limb and epidermal morphogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

Bmp4 is required for the generation of primordial germ cells in the mouse embryo

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

Changing patterns of cell adhesion molecules during mouse pelage hair follicle development. 2. Follicle morphogenesis in the hair mutants, Tabby and downy.

7 July 2018

1 reference

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Mutations of keratinocyte transglutaminase in lamellar ichthyosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

Programming gene expression in developing epidermis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

Expression of murine epidermal differentiation markers is tightly regulated by restricted extracellular calcium concentrations in vitro

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511458

Fatty acid transport in Saccharomyces cerevisiae. Directed mutagenesis of FAT1 distinguishes the biochemical activities associated with Fat1p

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050634

EuSplice: a unified resource for the analysis of splice signals and alternative splicing in eukaryotic genes

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050634

Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German infant

21 January 2018

1 reference

12 December 2020

A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis

1 reference

12 December 2020

Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism

1 reference

12 December 2020

Restrictive Dermopathy Associated With Transposition of the Great Arteries and Microcolon

1 reference

12 December 2020

New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0050634

Identifiers

DOI

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2 August 2017

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2 August 2017

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