Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1 (Q34312471)

1 August 2017

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1 (English)

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focal facial dermal dysplasia type IV

1 August 2017

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1 August 2017

Kelly Cordoro

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Ilona J. Frieden

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Ilona Frieden

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Robert J. Desnick

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Robert J Desnick

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1 August 2017

Anne M Slavotinek

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1 August 2017

Pavni Mehrotra

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1 August 2017

Irina Nazarenko

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1 August 2017

Paul Ling-Fung Tang

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1 August 2017

Richard Lao

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1 August 2017

Don Cameron

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1 August 2017

Ben Li

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1 August 2017

Catherine Chu

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1 August 2017

Chris Chou

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1 August 2017

Ann L Marqueling

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1 August 2017

Mani Yahyavi

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1 August 2017

Tom Glaser

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1 August 2017

Trine Prescott

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1 August 2017

Marie-Anne Morren

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1 August 2017

Koen Devriendt

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1 August 2017

Martin Petkovich

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1 August 2017

16 November 2012

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1 August 2017

Human Molecular Genetics

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1 August 2017

22

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1 August 2017

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1 August 2017

696-703

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Retinoic acid synthesis and functions in early embryonic development

1 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Increased retinoic acid levels through ablation of Cyp26b1 determine the processes of embryonic skin barrier formation and peridermal development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

SnapShot: retinoic acid signaling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Functional properties and substrate characterization of human CYP26A1, CYP26B1, and CYP26C1 expressed by recombinant baculovirus in insect cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Cytochrome P450s in the regulation of cellular retinoic acid metabolism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Natural genetic variation caused by small insertions and deletions in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

The role of CYP26 enzymes in defining appropriate retinoic acid exposure during embryogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Aldehyde dehydrogenase 1A3 is transcriptionally activated by all-trans-retinoic acid in human epidermal keratinocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Homozygous nonsense mutations in TWIST2 cause Setleis syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Crystal Structure of CYP24A1, a Mitochondrial Cytochrome P450 Involved in Vitamin D Metabolism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Removal of maternal retinoic acid by embryonic CYP26 is required for correct Nodal expression during early embryonic patterning

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

The Sequence Alignment/Map format and SAMtools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Focal preauricular dermal dysplasia: report of two cases and a review of literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Cyp26 enzymes generate the retinoic acid response pattern necessary for hindbrain development.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

CYP26A1 and CYP26C1 cooperatively regulate anterior-posterior patterning of the developing brain and the production of migratory cranial neural crest cells in the mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

A Novel Human Cytochrome P450, CYP26C1, Involved in Metabolism of 9-cis and All-trans Isomers of Retinoic Acid

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Setleis syndrome: three new cases and a review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Identification of the human cytochrome P450, P450RAI-2, which is predominantly expressed in the adult cerebellum and is responsible for all-trans-retinoic acid metabolism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Preauricular skin defects. A consequence of a persistent ectodermal groove

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

The focal facial dermal dysplasias: report of a kindred and a proposed new classification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Mechanism of skin morphogenesis. II. Retinoic acid modulates axis orientation and phenotypes of skin appendages

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome).

6 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS477

Cyp26C1 encodes a novel retinoic acid-metabolizing enzyme expressed in the hindbrain, inner ear, first branchial arch and tooth buds during murine development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS477

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS477

Molecular cloning and expression of a novel CYP26 gene (cyp26d1) during zebrafish early development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS477

Generating gradients of retinoic acid in the chick embryo: Cyp26C1 expression and a comparative analysis of the Cyp26 enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS477

Retinoic acid increases the expression of p53 and proapoptotic caspases and sensitizes keratinocytes to apoptosis: a possible explanation for tumor preventive action of retinoids

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS477

Fluconazole alters CYP26 gene expression in 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=3554199

CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554199

Congenital ectodermal dysplasia of the face

28 October 2018

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12 December 2020

Familial focal facial dermal dysplasia

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12 December 2020

Focal facial dermal dysplasia with a hair collar

1 reference

12 December 2020

Autosomal dominant inheritance in Setleis syndrome

1 reference

12 December 2020

Setleis syndrome: autosomal recessive or autosomal dominant inheritance?

1 reference

12 December 2020

Focal facial dermal dysplasia or aplasia cutis congenita: a case with a hair collar

1 reference

12 December 2020

Focal facial dermal dysplasia: report of a case with associated cardiac defects

1 reference

12 December 2020

Focal facial dermal dysplasia: two familial cases

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDS477

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1 August 2017

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1 August 2017

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