Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.P478S
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FLG

NM_002016.2:p.P478S

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

Association between polymorphisms and atopic dermatitis susceptibility: A systematic review and meta-analysis.

Huang Y et al.

Gene, 2024

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Filaggrin gene variants among Saudi patients with ichthyosis vulgaris.

Alakloby OM et al.

Bmc Medical Genomics, 2023

Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis.

Perälä M et al.

Jid Innovations : Skin Science From Molecules to Population Health, 2023

A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings.

Li M et al.

The British Journal of Dermatology, 2023

Keratosis pilaris and filaggrin loss-of-function mutations in patients with atopic dermatitis - Results of a Finnish cross-sectional study.

Salava A et al.

The Journal of Dermatology, 2022

Latent class analysis categorizes chronic hand eczema patients according to skin barrier impairment.

Tauber M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020

Cutaneous barrier dysfunction in allergic diseases.

Leung DYM et al.

The Journal of Allergy and Clinical Immunology, 2020

Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patients.

Hassani B et al.

International Journal of Dermatology, 2018

Filaggrin mutations and Molluscum contagiosum skin infection in patients with atopic dermatitis.

Manti S et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2017

Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.

Kim M et al.

Plos One, 2017

Development of Unlabeled Probe Based High-Resolution Melting Analysis for Detection of Filaggrin Gene Mutation c.3321delA.

Zhong WL et al.

Journal of Clinical Laboratory Analysis, 2016

The Association between ANXA11 Gene Polymorphisms and Sarcoidosis: a Meta-Analysis and systematic review.

Zhou H et al.

Sarcoidosis, Vasculitis, and Diffuse Lung Diseases : Official Journal of Wasog, 2016

An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.

Park KY et al.

Journal of Korean Medical Science, 2016

27366014 (PubMed )
Supplement: jkms-31-1136-s001.pdf

Copy-number variation of the filaggrin gene in Korean patients with atopic dermatitis: what really matters, 'number' or 'variation'?

Li K et al.

The British Journal of Dermatology, 2016

Filaggrin Polymorphism Pro478Ser Is Associated With the Severity of Atopic Dermatitis and Colonization by Staphylococcal aureus.

Lopes C et al.

Journal of Investigational Allergology & Clinical Immunology, 2016

Genetic and epigenetic studies of atopic dermatitis.

Bin L et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.

Kiritsi D et al.

The Journal of Allergy and Clinical Immunology, 2015

The effect of phthalate exposure and filaggrin gene variants on atopic dermatitis.

Wang IJ et al.

Environmental Research, 2015

FLG P478S polymorphisms and environmental risk factors for the atopic march in Taiwanese children: a prospective cohort study.

Wang IJ et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2015

Evidence That Loss-of-Function Filaggrin Gene Mutations Evolved in Northern Europeans to Favor Intracutaneous Vitamin D3 Production.

Thyssen JP et al.

Evolutionary Biology, 2014

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Nasuno T et al.

Cancer Science, 2014

24219164 (PubMed )
Supplement: cas0105-0202-SD2.xlsx › TE1

Association between P478S polymorphism of the filaggrin gene & atopic dermatitis.

Kim SY et al.

The Indian Journal of Medical Research, 2013

Genetic variants rs2393903 at 10q21.2 and rs6010620 at 20q13.33 are associated with clinical features of atopic dermatitis in the Chinese Han population.

Li P et al.

Journal of Dermatological Science, 2013

Ichthyosis vulgaris: the filaggrin mutation disease.

Thyssen JP et al.

The British Journal of Dermatology, 2013

Lack of association between filaggrin gene mutations and onset of psoriasis in childhood.

Winge MC et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013

Genome-wide association study for levels of total serum IgE identifies HLA-C in a Japanese population.

Yatagai Y et al.

Plos One, 2013

24324648 (PubMed )
Supplement: pone.0080941.s006.docx

Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population.

Hu Z et al.

Human Genetics, 2012

The filaggrin null genotypes R501X and 2282del4 seem not to be associated with psoriasis: results from general population study and meta-analysis.

Thyssen JP et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2012

[Filaggrin gene mutations are frequent and increase the risk of skin disease].

Meyer MW et al.

Ugeskrift for Laeger, 2011

Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients.

Kim EJ et al.

Annals of Dermatology, 2011

Filaggrin polymorphism P478S, IgE level, and atopic phenotypes.

Wang IJ et al.

The British Journal of Dermatology, 2011

Association between P478S polymorphism of the filaggrin gene and risk of psoriasis in a Chinese population in Taiwan.

Chang YC et al.

Archives of Dermatological Research, 2008

Single-nucleotide polymorphism (rs11204981) in filaggrin gene and its functional significance for asthma among children with eczema.

Pavlyk O et al.

Fiziolohichnyi Zhurnal (kiev, Ukraine : 1994), 0

Prevalence of filaggrin gene polymorphisms (exon-3) in patients with atopic dermatitis in a multiracial Brazilian population.

Laczynski CMM et al.

Anais Brasileiros De Dermatologia, 0

Neonatal Filaggrin Genetic Screening and Counseling to Prevent Atopic Dermatitis in High-Risk Infants.

Chen HY et al.

Dermatitis : Contact, Atopic, Occupational, Drug, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."