FLG c.9740C>G ;(p.S3247*)

Variant ID: 1-152277622-G-C

NM_002016.1(FLG):c.9740C>G;(p.S3247*)

This variant was identified in 86 publications

View GRCh38 version.




Publications:


Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis.

Nature Communications
Sirvent, Sofia S; Vallejo, Andres F AF; Corden, Emma E; Teo, Ying Y; Davies, James J; Clayton, Kalum K; Seaby, Eleanor G EG; Lai, Chester C; Ennis, Sarah S; Alyami, Rfeef R; Douilhet, Gemma G; Dean, Lareb S N LSN; Loxham, Matthew M; Horswill, Sarah S; Healy, Eugene E; Roberts, Graham G; Hall, Nigel J NJ; Friedmann, Peter S PS; Singh, Harinder H; Bennett, Clare L CL; Ardern-Jones, Michael R MR; Polak, Marta E ME
Publication Date: 2023-05-19

Variant appearance in text: FLG: S3247X
PubMed Link: 37208336
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_38588.pdf
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In silico analysis of the profilaggrin sequence indicates alterations in the stability, degradation route, and intracellular protein fate in filaggrin null mutation carriers.

Frontiers In Molecular Biosciences
Paul, Argho Aninda AA; Szulc, Natalia A NA; Kobiela, Adrian A; Brown, Sara J SJ; Pokrzywa, Wojciech W; Gutowska-Owsiak, Danuta D
Publication Date: 2023

Variant appearance in text: FLG: Ser3247Ter
PubMed Link: 37200867
Variant Present in the following documents:
  • Main text
  • fmolb-10-1105678.pdf
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Overview of Atopic Dermatitis in Different Ethnic Groups.

Journal Of Clinical Medicine
Chiricozzi, Andrea A; Maurelli, Martina M; Calabrese, Laura L; Peris, Ketty K; Girolomoni, Giampiero G
Publication Date: 2023-04-04

Variant appearance in text: FLG: S3247X
PubMed Link: 37048783
Variant Present in the following documents:
  • Main text
  • jcm-12-02701.pdf
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A small proline-rich protein (SPRR) gene variant contributes to atopic eczema and eczema-associated asthma susceptibility.

Postepy Dermatologii I Alergologii
Dębińska, Anna A; Danielewicz, Hanna H; Boznański, Andrzej A; Matusiak, Łukasz Ł; Szepietowski, Jacek C JC
Publication Date: 2022-10

Variant appearance in text: FLG: S3247X
PubMed Link: 36457670
Variant Present in the following documents:
  • Main text
  • PDIA-39-46316.pdf
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Biomarkers associated with the development of comorbidities in patients with atopic dermatitis: a systematic review.

Allergy
Broderick, Conor C; Ziehfreund, Stefanie S; van Bart, Karin K; Arents, Bernd B; Eyerich, Kilian K; Weidinger, Stephan S; Rastrick, Joseph J; Zink, Alexander A; Flohr, Carsten C; ,
Publication Date: 2022-11-10

Variant appearance in text: FLG: S3247X
PubMed Link: 36366871
Variant Present in the following documents:
  • Main text
  • ALL-78-84.pdf
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Genetic Variants in Epidermal Differentiation Complex Genes as Predictive Biomarkers for Atopic Eczema, Allergic Sensitization, and Eczema-Associated Asthma in a 6-Year Follow-Up Case-Control Study in Children.

Journal Of Clinical Medicine
Dębińska, Anna A; Danielewicz, Hanna H; Sozańska, Barbara B
Publication Date: 2022-08-19

Variant appearance in text: FLG: S3247X
PubMed Link: 36013110
Variant Present in the following documents:
  • Main text
  • jcm-11-04865.pdf
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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: FLG: S3247X; rs150597413
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM3_ESM.xlsx, sheet 1
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
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Factors associated with severity of atopic dermatitis - a Finnish cross-sectional study.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv
Salava, A A; Salo, V V; Leppänen, J J; Lauerma, A A; Remitz, A A
Publication Date: 2022-11

Variant appearance in text: FLG: S3247X
PubMed Link: 35766133
Variant Present in the following documents:
  • Main text
  • JDV-36-2130.pdf
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Early-life predictors and risk factors of peanut allergy, and its association with asthma in later-life: Population-based birth cohort study.

Clinical And Experimental Allergy : Journal Of The British Society For Allergy And Clinical Immunology
Kotsapas, Constantinos C; Nicolaou, Nicolaos N; Haider, Sadia S; Kerry, Gina G; Turner, Paul J PJ; Murray, Clare S CS; Simpson, Angela A; Custovic, Adnan A
Publication Date: 2022-05

Variant appearance in text: FLG: S3247X
PubMed Link: 35108754
Variant Present in the following documents:
  • Main text
  • CEA-52-646.pdf
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Proportions of Polyunsaturated Fatty Acids in Umbilical Cord Blood at Birth Are Related to Atopic Eczema Development in the First Year of Life.

Nutrients
Barman, Malin M; Stråvik, Mia M; Broberg, Karin K; Sandin, Anna A; Wold, Agnes E AE; Sandberg, Ann-Sofie AS
Publication Date: 2021-10-25

Variant appearance in text: FLG: S3247X
PubMed Link: 34836034
Variant Present in the following documents:
  • Main text
  • nutrients-13-03779.pdf
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Comparison of Epidermal Barrier Integrity in Adults with Classic Atopic Dermatitis, Atopic Prurigo and Non-Atopic Prurigo Nodularis.

Biology
Fölster-Holst, Regina R; Reimer, Rahel R; Neumann, Claudia C; Proksch, Erhardt E; Rodriguez, Elke E; Weidinger, Stephan S; Goldust, Mohamad M; Hanisch, Eckhard E; Dähnhardt-Pfeiffer, Stephan S; Freitag-Wolf, Sandra S
Publication Date: 2021-10-07

Variant appearance in text: FLG: S3247X
PubMed Link: 34681107
Variant Present in the following documents:
  • Main text
  • biology-10-01008.pdf
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Moisturisers from birth in at-risk infants of atopic dermatitis - a pragmatic randomised controlled trial.

The Australasian Journal Of Dermatology
Ng, Pamela Si Min PSM; Wee, Lynette Wei Yi LWY; Ho, Valerie Pui Yoong VPY; Tan, Weixuan Colin WC; Bishnoi, Priya P; Alagappan, Uma U; Wong, Sharon Mun Yee SMY; Gan, Emily Yiping EY; Quek, Bin Huey BH; Shen, Liang L; Su, Bing B; Common, John Ea JE; Koh, Mark Jean Aan MJA
Publication Date: 2021-11

Variant appearance in text: FLG: S3247X
PubMed Link: 34424533
Variant Present in the following documents:
  • Main text
  • AJD-62-e539.pdf
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Increased Th22 cell numbers in a general pediatric population with filaggrin haploinsufficiency: The Generation R Study.

Pediatric Allergy And Immunology : Official Publication Of The European Society Of Pediatric Allergy And Immunology
Looman, Kirsten I M KIM; van Mierlo, Minke M F MMF; van Zelm, Menno C MC; Hu, Chen C; Duijts, Liesbeth L; de Jongste, Johan C JC; Nijsten, Tamar T; Pardo, Luba M LM; Kiefte-de Jong, Jessica C JC; Moll, Henriëtte A HA; Pasmans, Suzanne G M A SGMA
Publication Date: 2021-08

Variant appearance in text: FLG: S3247X; rs150597413
PubMed Link: 33715246
Variant Present in the following documents:
  • Main text
  • PAI-32-1360.pdf
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Four childhood atopic dermatitis subtypes identified from trajectory and severity of disease and internally validated in a large UK birth cohort.

The British Journal Of Dermatology
Mulick, A R AR; Mansfield, K E KE; Silverwood, R J RJ; Budu-Aggrey, A A; Roberts, A A; Custovic, A A; Pearce, N N; Irvine, A D AD; Smeeth, L L; Abuabara, K K; Langan, S M SM
Publication Date: 2021-09

Variant appearance in text: FLG: S3247X
PubMed Link: 33655501
Variant Present in the following documents:
  • Main text
View BVdb publication page



Filaggrin gene mutations with special reference to atopic dermatitis.

Current Treatment Options In Allergy
Gupta, Jayanta J; Margolis, David J DJ
Publication Date: 2020-09

Variant appearance in text: FLG: Ser3247X
PubMed Link: 33585163
Variant Present in the following documents:
  • Main text
View BVdb publication page



Filaggrin Loss-of-Function Mutations Are Risk Factors for Severe Food Allergy in Children with Atopic Dermatitis.

Journal Of Clinical Medicine
Astolfi, Annalisa A; Cipriani, Francesca F; Messelodi, Daria D; De Luca, Matilde M; Indio, Valentina V; Di Chiara, Costanza C; Giannetti, Arianna A; Ricci, Lorenza L; Neri, Iria I; Patrizi, Annalisa A; Ricci, Giampaolo G; Pession, Andrea A
Publication Date: 2021-01-11

Variant appearance in text: FLG: S3247X
PubMed Link: 33440636
Variant Present in the following documents:
  • Main text
  • jcm-10-00233.pdf
  • jcm-10-00233-s001.pdf
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Filaggrin Polymorphisms and the Uptake of Chemicals through the Skin-A Human Experimental Study.

Environmental Health Perspectives
Rietz Liljedahl, Emelie E; Johanson, Gunnar G; Korres de Paula, Helena H; Faniband, Moosa M; Assarsson, Eva E; Littorin, Margareta M; Engfeldt, Malin M; Lidén, Carola C; Julander, Anneli A; Wahlberg, Karin K; Lindh, Christian C; Broberg, Karin K
Publication Date: 2021-01

Variant appearance in text: FLG: S3247X
PubMed Link: 33439052
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current insights into the genetics of food allergy.

The Journal Of Allergy And Clinical Immunology
Kanchan, Kanika K; Clay, Selene S; Irizar, Haritz H; Bunyavanich, Supinda S; Mathias, Rasika A RA
Publication Date: 2021-01

Variant appearance in text: FLG: S3247X
PubMed Link: 33436162
Variant Present in the following documents:
  • Main text
View BVdb publication page



Topical corticosteroids normalize both skin and systemic inflammatory markers in infant atopic dermatitis.

The British Journal Of Dermatology
McAleer, M A MA; Jakasa, I I; Stefanovic, N N; McLean, W H I WHI; Kezic, S S; Irvine, A D AD
Publication Date: 2021-07

Variant appearance in text: FLG: S3247X
PubMed Link: 33269467
Variant Present in the following documents:
  • Main text
  • BJD-185-153.pdf
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Mutations of filament-aggregating protein gene in Romanian children diagnosed with atopic dermatitis.

Experimental And Therapeutic Medicine
Chiriac, Anca E AE; Popescu, Roxana R; Butnariu, Lăcrămioara L; Murgu, Alina A; Foia, Liliana L; Azoicai, Doina D
Publication Date: 2020-12

Variant appearance in text: FLG: S3247X
PubMed Link: 33149776
Variant Present in the following documents:
  • Main text
  • etm-20-06-09343.pdf
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Causal Analysis Shows Evidence of Atopic Dermatitis Leading to an Increase in Vitamin D Levels.

The Journal Of Investigative Dermatology
Drodge, Daniel R DR; Budu-Aggrey, Ashley A; Paternoster, Lavinia L
Publication Date: 2021-05

Variant appearance in text: FLG: S3247X; rs150597413
PubMed Link: 33069727
Variant Present in the following documents:
  • Main text
View BVdb publication page



Changes in nano-mechanical properties of human epidermal cornified cells in children with atopic dermatitis.

Wellcome Open Research
Haftek, Marek M; McAleer, Maeve A MA; Jakasa, Ivone I; McLean, Wh Irwin WI; Kezic, Sanja S; Irvine, Alan D AD
Publication Date: 2020

Variant appearance in text: FLG: S3247X
PubMed Link: 32954014
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and Epigenetic Aspects of Atopic Dermatitis.

International Journal Of Molecular Sciences
Nedoszytko, Bogusław B; Reszka, Edyta E; Gutowska-Owsiak, Danuta D; Trzeciak, Magdalena M; Lange, Magdalena M; Jarczak, Justyna J; Niedoszytko, Marek M; Jablonska, Ewa E; Romantowski, Jan J; Strapagiel, Dominik D; Skokowski, Jarosław J; Siekierzycka, Anna A; Nowicki, Roman J RJ; Dobrucki, Iwona T IT; Zaryczańska, Anna A; Kalinowski, Leszek L
Publication Date: 2020-09-04

Variant appearance in text: FLG: S3247X
PubMed Link: 32899887
Variant Present in the following documents:
  • Main text
  • ijms-21-06484.pdf
View BVdb publication page



Rare occurrence of common filaggrin mutations in Turkish children with food allergy and atopic dermatitis

Turkish Journal Of Medical Sciences
Vardar Acar, Neşe N; Cavkaytar, Özlem Ö; Arik Yilmaz, Ebru E; Büyüktiryaki, Ayşe Betül AB; Uysal Soyer, Özge Ö; Şahiner, Ümit Murat ÜM; Şekerel, Bülent Enis BE; Karaaslan, Ibrahim Çağatay IÇ; Saçkesen, Cansin C
Publication Date: 2020-12-17

Variant appearance in text: FLG: S3247X
PubMed Link: 32536107
Variant Present in the following documents:
  • Main text
  • turkjmedsci-50-1865.pdf
View BVdb publication page



Chromosome 11q13.5 variant as a risk factor for atopic dermatitis in children.

Postepy Dermatologii I Alergologii
Dêbiñska, Anna A; Danielewicz, Hanna H; Drabik-Chamerska, Anna A; Kalita, Danuta D; Boznañski, Andrzej A
Publication Date: 2020-02

Variant appearance in text: FLG: S3247X
PubMed Link: 32467693
Variant Present in the following documents:
  • Main text
  • PDIA-37-93388.pdf
View BVdb publication page



Hyperlinear palms as a clinical finding in peanut allergy.

The Journal Of Allergy And Clinical Immunology. In Practice
Brar, Kanwaljit K KK; Calatroni, Agustin A; Berdyshev, Evgeny E; Palombi, Shirley S; Goleva, Elena E; Leung, Donald Y M DYM
Publication Date: 2020-09

Variant appearance in text: FLG: S3247X
PubMed Link: 32376483
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics and Epigenetics of Atopic Dermatitis: An Updated Systematic Review.

Genes
Martin, Maria J MJ; Estravís, Miguel M; García-Sánchez, Asunción A; Dávila, Ignacio I; Isidoro-García, María M; Sanz, Catalina C
Publication Date: 2020-04-18

Variant appearance in text: FLG: S3247X
PubMed Link: 32325630
Variant Present in the following documents:
  • Main text
  • genes-11-00442.pdf
View BVdb publication page



Daily emollient during infancy for prevention of eczema: the BEEP randomised controlled trial.

Lancet (London, England)
Chalmers, Joanne R JR; Haines, Rachel H RH; Bradshaw, Lucy E LE; Montgomery, Alan A AA; Thomas, Kim S KS; Brown, Sara J SJ; Ridd, Matthew J MJ; Lawton, Sandra S; Simpson, Eric L EL; Cork, Michael J MJ; Sach, Tracey H TH; Flohr, Carsten C; Mitchell, Eleanor J EJ; Swinden, Richard R; Tarr, Stella S; Davies-Jones, Susan S; Jay, Nicola N; Kelleher, Maeve M MM; Perkin, Michael R MR; Boyle, Robert J RJ; Williams, Hywel C HC; ,
Publication Date: 2020-03-21

Variant appearance in text: FLG: S3247X
PubMed Link: 32087126
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progression of acute-to-chronic atopic dermatitis is associated with quantitative rather than qualitative changes in cytokine responses.

The Journal Of Allergy And Clinical Immunology
Tsoi, Lam C LC; Rodriguez, Elke E; Stölzl, Dora D; Wehkamp, Ulrike U; Sun, Jingru J; Gerdes, Sascha S; Sarkar, Mrinal K MK; Hübenthal, Matthias M; Zeng, Chang C; Uppala, Ranjitha R; Xing, Xianying X; Thielking, Frederieke F; Billi, Allison C AC; Swindell, William R WR; Shefler, Alanna A; Chen, Jiahan J; Patrick, Matthew T MT; Harms, Paul W PW; Kahlenberg, J Michelle JM; Perez White, Bethany E BE; Maverakis, Emanual E; Gudjonsson, Johann E JE; Weidinger, Stephan S
Publication Date: 2020-05

Variant appearance in text: FLG: S3247X
PubMed Link: 31891686
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effect of immunosuppressive treatment on biomarkers in adult atopic dermatitis patients.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv
Roekevisch, E E; Szegedi, K K; Hack, D P DP; Schram, M E ME; Res, P C J M PCJM; Bos, J D JD; Leeflang, M M G MMG; Luiten, R M RM; Kezic, S S; Spuls, P I PI; Middelkamp-Hup, M A MA
Publication Date: 2020-07

Variant appearance in text: FLG: S3247X
PubMed Link: 31855303
Variant Present in the following documents:
  • Main text
  • JDV-34-1545.pdf
View BVdb publication page



Proteomic analysis of a filaggrin-deficient skin organoid model shows evidence of increased transcriptional-translational activity, keratinocyte-immune crosstalk and disordered axon guidance.

Wellcome Open Research
Elias, Martina S MS; Wright, Sheila C SC; Nicholson, William V WV; Morrison, Kimberley D KD; Prescott, Alan R AR; Ten Have, Sara S; Whitfield, Phillip D PD; Lamond, Angus I AI; Brown, Sara J SJ
Publication Date: 2019

Variant appearance in text: FLG: S3247X
PubMed Link: 31641698
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early-life inhalant allergen exposure, filaggrin genotype, and the development of sensitization from infancy to adolescence.

The Journal Of Allergy And Clinical Immunology
Simpson, Angela A; Brough, Helen A HA; Haider, Sadia S; Belgrave, Danielle D; Murray, Clare S CS; Custovic, Adnan A
Publication Date: 2020-03

Variant appearance in text: FLG: S3247X
PubMed Link: 31629803
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Filaggrin Loss-of-Function Variants With Race in Children With Atopic Dermatitis.

Jama Dermatology
Margolis, David J DJ; Mitra, Nandita N; Wubbenhorst, Bradley B; D'Andrea, Kurt K; Kraya, Adam A AA; Hoffstad, Ole O; Shah, Saloni S; Nathanson, Katherine L KL
Publication Date: 2019-11-01

Variant appearance in text: FLG: S3247*; rs150597413
PubMed Link: 31365035
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.

Human Molecular Genetics
Johansson, Åsa Å; Rask-Andersen, Mathias M; Karlsson, Torgny T; Ek, Weronica E WE
Publication Date: 2019-12-01

Variant appearance in text: FLG: S3247X
PubMed Link: 31361310
Variant Present in the following documents:
  • Main text
  • ddz175.pdf
View BVdb publication page



Clinical onset of atopic eczema: Results from 2 nationally representative British birth cohorts followed through midlife.

The Journal Of Allergy And Clinical Immunology
Abuabara, Katrina K; Ye, Morgan M; McCulloch, Charles E CE; Sullivan, Alice A; Margolis, David J DJ; Strachan, David P DP; Paternoster, Lavinia L; Yew, Yik Weng YW; Williams, Hywel C HC; Langan, Sinéad M SM
Publication Date: 2019-09

Variant appearance in text: FLG: S3247X; rs150597413
PubMed Link: 31260715
Variant Present in the following documents:
  • Main text
View BVdb publication page



Filaggrin and atopic march.

Biochemia Medica
Čepelak, Ivana I; Dodig, Slavica S; Pavić, Ivan I
Publication Date: 2019-06-15

Variant appearance in text: FLG: S3247X
PubMed Link: 31223255
Variant Present in the following documents:
  • Main text
  • bm-29-2-020501.pdf
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Most associations of early-life environmental exposures and genetic risk factors poorly differentiate between eczema phenotypes: the Generation R Study.

The British Journal Of Dermatology
Hu, C C; Duijts, L L; Erler, N S NS; Elbert, N J NJ; Piketty, C C; Bourdès, V V; Blanchet-Réthoré, S S; de Jongste, J C JC; Pasmans, S G M A SGMA; Felix, J F JF; Nijsten, T T
Publication Date: 2019-12

Variant appearance in text: FLG: S3247X
PubMed Link: 30869802
Variant Present in the following documents:
  • Main text
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Different definitions of atopic dermatitis: impact on prevalence estimates and associated risk factors.

The British Journal Of Dermatology
Nakamura, T T; Haider, S S; Colicino, S S; Murray, C S CS; Holloway, J J; Simpson, A A; Cullinan, P P; Custovic, A A; ,
Publication Date: 2019-12

Variant appearance in text: FLG: S3247X
PubMed Link: 30822368
Variant Present in the following documents:
  • Main text
  • BJD-181-1272.pdf
View BVdb publication page