A novel multiplex analysis of filaggrin polymorphisms: A universally applicable method for genotyping

Michael Meldgaard; Pal B Szecsi; Berit C Carlsen; Jacob P Thyssen; Jeanne D Johansen; Torkil Menné; Steen Stender

doi:10.1016/j.cca.2012.06.014

A novel multiplex analysis of filaggrin polymorphisms: A universally applicable method for genotyping

Michael Meldgaard, Pal B Szecsi, Berit C Carlsen, Jacob P Thyssen, Jeanne D Johansen, Torkil Menné, Steen Stender

55 Citationer (Scopus)

Abstract

The filaggrin protein is expressed as profilaggrin mainly in stratum granulosum cells of the epidermis. The profilaggrin gene codes for 10-12 filaggrin repeats. The filaggrin protein is important for skin barrier function. Filaggrin deficiency due to functional null-polymorphisms affects 8-10% of the people in Northern Europe and is a strong risk factor for several diseases. Here, we describe a novel method for efficient, multiplexed genotyping of variations in the profilaggrin gene.

Originalsprog	Engelsk
Tidsskrift	Clinica Chimica Acta
Vol/bind	413
Udgave nummer	19-20
Sider (fra-til)	1488-92
Antal sider	5
ISSN	0009-8981
DOI	https://doi.org/10.1016/j.cca.2012.06.014
Status	Udgivet - 2012

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10.1016/j.cca.2012.06.014

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title = "A novel multiplex analysis of filaggrin polymorphisms: A universally applicable method for genotyping",

abstract = "The filaggrin protein is expressed as profilaggrin mainly in stratum granulosum cells of the epidermis. The profilaggrin gene codes for 10-12 filaggrin repeats. The filaggrin protein is important for skin barrier function. Filaggrin deficiency due to functional null-polymorphisms affects 8-10\% of the people in Northern Europe and is a strong risk factor for several diseases. Here, we describe a novel method for efficient, multiplexed genotyping of variations in the profilaggrin gene.",

author = "Michael Meldgaard and Szecsi, \{Pal B\} and Carlsen, \{Berit C\} and Thyssen, \{Jacob P\} and Johansen, \{Jeanne D\} and Torkil Menn{\'e} and Steen Stender",

year = "2012",

doi = "10.1016/j.cca.2012.06.014",

language = "English",

volume = "413",

pages = "1488--92",

journal = "Clinica Chimica Acta",

issn = "0009-8981",

publisher = "Elsevier BV",

number = "19-20",

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TY - JOUR

T1 - A novel multiplex analysis of filaggrin polymorphisms

T2 - A universally applicable method for genotyping

AU - Meldgaard, Michael

AU - Szecsi, Pal B

AU - Carlsen, Berit C

AU - Thyssen, Jacob P

AU - Johansen, Jeanne D

AU - Menné, Torkil

AU - Stender, Steen

PY - 2012

Y1 - 2012

N2 - The filaggrin protein is expressed as profilaggrin mainly in stratum granulosum cells of the epidermis. The profilaggrin gene codes for 10-12 filaggrin repeats. The filaggrin protein is important for skin barrier function. Filaggrin deficiency due to functional null-polymorphisms affects 8-10% of the people in Northern Europe and is a strong risk factor for several diseases. Here, we describe a novel method for efficient, multiplexed genotyping of variations in the profilaggrin gene.

AB - The filaggrin protein is expressed as profilaggrin mainly in stratum granulosum cells of the epidermis. The profilaggrin gene codes for 10-12 filaggrin repeats. The filaggrin protein is important for skin barrier function. Filaggrin deficiency due to functional null-polymorphisms affects 8-10% of the people in Northern Europe and is a strong risk factor for several diseases. Here, we describe a novel method for efficient, multiplexed genotyping of variations in the profilaggrin gene.

UR - https://www.scopus.com/pages/publications/84862740305

U2 - 10.1016/j.cca.2012.06.014

DO - 10.1016/j.cca.2012.06.014

M3 - Journal article

C2 - 22705401

SN - 0009-8981

VL - 413

SP - 1488

EP - 1492

JO - Clinica Chimica Acta

JF - Clinica Chimica Acta

IS - 19-20

ER -

A novel multiplex analysis of filaggrin polymorphisms: A universally applicable method for genotyping

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