(Q35609038)

9 August 2017

Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect (English)

1 reference

9 August 2017

1 reference

Sara J Brown

1

0 references

Alan D. Irvine

object named as

Alan D Irvine

series ordinal

9

0 references

Heather Cordell

series ordinal

7

object named as

Heather J Cordell

1 reference

9 August 2017

3

Aileen Sandilands

1 reference

9 August 2017

5

Elizabeth Pohler

1 reference

9 August 2017

2

Karin Kroboth

1 reference

9 August 2017

6

Sanja Kezic

1 reference

9 August 2017

8

W H Irwin McLean

1 reference

9 August 2017

Linda E Campbell

4

1 reference

PubMed ID

22071473

9 August 2017

language of work or name

English

0 references

publication date

10 November 2011

1 reference

Journal of Investigative Dermatology

9 August 2017

1 reference

9 August 2017

132

1 reference

9 August 2017

1

1 reference

9 August 2017

98-104

1 reference

https://scigraph.springernature.com/pub.10.1038/jid.2011.342

9 August 2017

0 references

cites work

Genome structural variation discovery and genotyping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Levels of filaggrin degradation products are influenced by both filaggrin genotype and atopic dermatitis severity.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Eczema prevalence in the United States: data from the 2003 National Survey of Children's Health

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Towards a comprehensive structural variation map of an individual human genome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Origins and functional impact of copy number variation in the human genome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Filaggrin gene defects and risk of developing allergic sensitisation and allergic disorders: systematic review and meta-analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Filaggrin in the frontline: role in skin barrier function and disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Identification of loci associated with schizophrenia by genome-wide association and follow-up

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Mapping and sequencing of structural variation from eight human genomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Histidase expression in human epidermal keratinocytes: regulation by differentiation status and all-trans retinoic acid

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Trends in the prevalence and severity of asthma, rhinitis and atopic eczema in 6- to 7- and 13- to 14-yr-old children from the north-east of England.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Global variation in copy number in the human genome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Quality of life and childhood atopic dermatitis: the misery of living with childhood eczema

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Atopic and non-atopic eczema

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Clinical practice. Atopic dermatitis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Detection of large-scale variation in the human genome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Large-scale copy number polymorphism in the human genome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Moisturization and skin barrier function

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

The U.K. Working Party's Diagnostic Criteria for Atopic Dermatitis. III. Independent hospital validation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

The Nottingham Eczema Severity Score: preliminary refinement of the Rajka and Langeland grading.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

The prevalence of childhood atopic eczema in a general population

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Filaggrin null mutations and childhood atopic eczema: A population-based case-control study

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Replication of LCE3C–LCE3B CNV as a Risk Factor for Psoriasis and Analysis of Interaction with Other Genetic Risk Factors

23 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

7 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3236450

Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21

7 December 2018

1 reference

12 December 2020

Loss-of-Function Mutations in the Filaggrin Gene Lead to Reduced Level of Natural Moisturizing Factor in the Stratum Corneum

1 reference

12 December 2020

Meta-analysis of filaggrin polymorphisms in eczema and asthma: Robust risk factors in atopic disease

1 reference

12 December 2020

Filaggrin repeat number polymorphism is associated with a dry skin phenotype

1 reference

12 December 2020

Characterization of mouse profilaggrin: evidence for nuclear engulfment and translocation of the profilaggrin B-domain during epidermal differentiation

1 reference

12 December 2020

The characterization of human epidermal filaggrin. A histidine-rich, keratin filament-aggregating protein

1 reference

12 December 2020

Organization, structure, and polymorphisms of the human profilaggrin gene

1 reference

12 December 2020

Identifiers

DOI

10.1038/JID.2011.342

1 reference

PubMed ID

22071473

Dimensions Publication ID

9 August 2017

0 references

1 reference

9 August 2017

1 reference

PubMed ID

22071473