Literature DB >> 31372728

Filaggrin sequencing and bioinformatics tools.

David J Margolis1,2,3, Nandita Mitra4,5, Bradley Wubbenhorst4,6, Katherine L Nathanson4,6,7.   

Abstract

Atopic dermatitis (AD) is a common illness that most commonly originates in childhood, but can be seen in all ages. Filaggrin (FLG) loss of function variants have been associated with the onset and severity of atopic dermatitis and are the most common genetic association with AD. Previous studies have shown variability in the frequency of FLG variants. We have recently demonstrated that previous FLG genotyping methods were inadequate for proper genotyping. In this concise report, we show that genotyping using a popular older informatics program is problematic. In fact, publications that used the older program likely do not properly capture all FLG variants.

Entities:  

Keywords:  Atopic dermatitis; Filaggrin; Genotyping; Informatics

Mesh:

Substances:

Year:  2019        PMID: 31372728      PMCID: PMC6994326          DOI: 10.1007/s00403-019-01956-3

Source DB:  PubMed          Journal:  Arch Dermatol Res        ISSN: 0340-3696            Impact factor:   3.017


  27 in total

Review 1.  Diagnosis and treatment of atopic dermatitis in children and adults: European Academy of Allergology and Clinical Immunology/American Academy of Allergy, Asthma and Immunology/PRACTALL Consensus Report.

Authors:  C A Akdis; M Akdis; T Bieber; C Bindslev-Jensen; M Boguniewicz; P Eigenmann; Q Hamid; A Kapp; D Y M Leung; J Lipozencic; T A Luger; A Muraro; N Novak; T A E Platts-Mills; L Rosenwasser; A Scheynius; F E R Simons; J Spergel; K Turjanmaa; U Wahn; S Weidinger; T Werfel; T Zuberbier
Journal:  Allergy       Date:  2006-08       Impact factor: 13.146

Review 2.  The genetics of asthma and allergic disease: a 21st century perspective.

Authors:  Carole Ober; Tsung-Chieh Yao
Journal:  Immunol Rev       Date:  2011-07       Impact factor: 12.988

3.  Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.

Authors:  Fulya Taylan; Daniel Nilsson; Samina Asad; Agne Lieden; Carl-Fredrik Wahlgren; Mårten C G Winge; Kassahun Desalegn Bilcha; Magnus Nordenskjöld; Maria Bradley
Journal:  J Allergy Clin Immunol       Date:  2015-03-26       Impact factor: 10.793

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

Authors:  Jacob P Thyssen; Daniel D Bikle; Peter M Elias
Journal:  Evol Biol       Date:  2014-09-01       Impact factor: 3.119

Review 5.  Guidelines of care for the management of atopic dermatitis: section 1. Diagnosis and assessment of atopic dermatitis.

Authors:  Lawrence F Eichenfield; Wynnis L Tom; Sarah L Chamlin; Steven R Feldman; Jon M Hanifin; Eric L Simpson; Timothy G Berger; James N Bergman; David E Cohen; Kevin D Cooper; Kelly M Cordoro; Dawn M Davis; Alfons Krol; David J Margolis; Amy S Paller; Kathryn Schwarzenberger; Robert A Silverman; Hywel C Williams; Craig A Elmets; Julie Block; Christopher G Harrod; Wendy Smith Begolka; Robert Sidbury
Journal:  J Am Acad Dermatol       Date:  2013-11-27       Impact factor: 11.527

6.  The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort.

Authors:  David J Margolis; Andrea J Apter; Jayanta Gupta; Ole Hoffstad; Maryte Papadopoulos; Linda E Campbell; Aileen Sandilands; W H Irwin McLean; Tim R Rebbeck; Nandita Mitra
Journal:  J Allergy Clin Immunol       Date:  2012-08-27       Impact factor: 10.793

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

Authors:  Mark A DePristo; Eric Banks; Ryan Poplin; Kiran V Garimella; Jared R Maguire; Christopher Hartl; Anthony A Philippakis; Guillermo del Angel; Manuel A Rivas; Matt Hanna; Aaron McKenna; Tim J Fennell; Andrew M Kernytsky; Andrey Y Sivachenko; Kristian Cibulskis; Stacey B Gabriel; David Altshuler; Mark J Daly
Journal:  Nat Genet       Date:  2011-04-10       Impact factor: 38.330

8.  Exome sequencing of filaggrin and related genes in African-American children with atopic dermatitis.

Authors:  David J Margolis; Jayanta Gupta; Andrea J Apter; Ole Hoffstad; Maryte Papadopoulos; Tim R Rebbeck; Bradley Wubbenhorst; Nandita Mitra
Journal:  J Invest Dermatol       Date:  2014-03-07       Impact factor: 8.551

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

Authors:  Colin N A Palmer; Alan D Irvine; Ana Terron-Kwiatkowski; Yiwei Zhao; Haihui Liao; Simon P Lee; David R Goudie; Aileen Sandilands; Linda E Campbell; Frances J D Smith; Gráinne M O'Regan; Rosemarie M Watson; Jo E Cecil; Sherri J Bale; John G Compton; John J DiGiovanna; Philip Fleckman; Sue Lewis-Jones; Gehan Arseculeratne; Ann Sergeant; Colin S Munro; Brahim El Houate; Ken McElreavey; Liselotte B Halkjaer; Hans Bisgaard; Somnath Mukhopadhyay; W H Irwin McLean
Journal:  Nat Genet       Date:  2006-03-19       Impact factor: 38.330

10.  South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin.

Authors:  Fatemah Thawer-Esmail; Ivone Jakasa; Gail Todd; Yaran Wen; Sara J Brown; Karin Kroboth; Linda E Campbell; Grainne M O'Regan; W H Irwin McLean; Alan D Irvine; Sanja Kezic; Aileen Sandilands
Journal:  J Allergy Clin Immunol       Date:  2014-01       Impact factor: 10.793

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  5 in total

1.  Association between fine mapping thymic stromal lymphopoietin and atopic dermatitis onset and persistence.

Authors:  Carolyn Lou; Nandita Mitra; Bradley Wubbenhorst; Kurt D'Andrea; Ole Hoffstad; Brian S Kim; Albert Yan; Andrea L Zaenglein; Zelma Chiesa Fuxench; Katherine L Nathanson; David J Margolis
Journal:  Ann Allergy Asthma Immunol       Date:  2019-09-04       Impact factor: 6.347

2.  HLA Class I Polymorphisms Influencing Both Peptide Binding and KIR Interactions Are Associated with Remission among Children with Atopic Dermatitis: A Longitudinal Study.

Authors:  David J Margolis; Nandita Mitra; Brian S Kim; Jamie L Duke; Ron A Berna; Ole J Hoffstad; Jenna R Wasserman; Deborah A Ferriola; Tim L Mosbruger; Bradley S Wubbenhorst; Kathrine L Nathanson; Dimitri S Monos
Journal:  J Immunol       Date:  2021-04-16       Impact factor: 5.422

3.  Filaggrin gene mutations with special reference to atopic dermatitis.

Authors:  Jayanta Gupta; David J Margolis
Journal:  Curr Treat Options Allergy       Date:  2020-07-10

4.  FLG Variation Differs between European Americans and African Americans.

Authors:  Yaqian Zhu; Nandita Mitra; Yuanqing Feng; Sarah Tishkoff; Ole Hoffstad; David Margolis
Journal:  J Invest Dermatol       Date:  2021-01-22       Impact factor: 7.590

Review 5.  Cracking the Skin Barrier: Liquid-Liquid Phase Separation Shines under the Skin.

Authors:  Alexa Regina Chua Avecilla; Felipe Garcia Quiroz
Journal:  JID Innov       Date:  2021-07-06
  5 in total

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