Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita

Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. TINF2 encodes a protein in the shelterin complex and TERC en...

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Autores principales: Panichareon, Benjaporn, Seedapan, Thanawat, Thongnoppakhun, Wanna, Limwongse, Chanin, Pithukpakorn, Manop, Limjindaporn, Thawornchai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2015
Materias:
Published online: August, 2015
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560313/
https://www.ncbi.nlm.nih.gov/pubmed/26351433
http://dx.doi.org/10.1159/000439042
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author Panichareon, Benjaporn
Seedapan, Thanawat
Thongnoppakhun, Wanna
Limwongse, Chanin
Pithukpakorn, Manop
Limjindaporn, Thawornchai
author_facet Panichareon, Benjaporn
Seedapan, Thanawat
Thongnoppakhun, Wanna
Limwongse, Chanin
Pithukpakorn, Manop
Limjindaporn, Thawornchai
author_sort Panichareon, Benjaporn
collection PubMed
description Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. TINF2 encodes a protein in the shelterin complex and TERC encodes a component of the telomerase complex. Mutations of both genes have been associated with DKC. This study examined mutations in TINF2
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spelling pubmed-45603132015-09-08 Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita Panichareon, Benjaporn Seedapan, Thanawat Thongnoppakhun, Wanna Limwongse, Chanin Pithukpakorn, Manop Limjindaporn, Thawornchai Case Rep Dermatol Published online: August, 2015 Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. TINF2 encodes a protein in the shelterin complex and TERC encodes a component of the telomerase complex. Mutations of both genes have been associated with DKC. This study examined mutations in TINF2 S. Karger AG 2015-08-12 /pmc/articles/PMC4560313/ /pubmed/26351433 http://dx.doi.org/10.1159/000439042 Text en Copyright © 2015 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial 3.0 Unported license (CC BY-NC) (www.karger.com/OA-license), applicable to the online version of the article only. Distribution permitted for non-commercial purposes only.
spellingShingle Published online: August, 2015
Panichareon, Benjaporn
Seedapan, Thanawat
Thongnoppakhun, Wanna
Limwongse, Chanin
Pithukpakorn, Manop
Limjindaporn, Thawornchai
Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita
title Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita
title_full Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita
title_fullStr Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita
title_full_unstemmed Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita
title_short Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita
title_sort novel mutation of the tinf2 gene in a patient with dyskeratosis congenita
topic Published online: August, 2015
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560313/
https://www.ncbi.nlm.nih.gov/pubmed/26351433
http://dx.doi.org/10.1159/000439042
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