Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate

Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate

Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. SAM domain, a protein-protein interaction module, is found in cytoplasmic signaling proteins and several transcript...

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Main Authors: Kantaputra P.N., Malaivijitnond S., Vieira A.R., Heering J., Dotsch V., Khankasikum T., Sripathomsawat W.
Format: Article
Language:English
Published: 2014
Online Access:http://www.scopus.com/inward/record.url?eid=2-s2.0-79956216387&partnerID=40&md5=1a3541adfb4fcfe4e353e8c69440f5e4
http://www.ncbi.nlm.nih.gov/pubmed/21567929
http://cmuir.cmu.ac.th/handle/6653943832/1046
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Institution: Chiang Mai University
Language: English
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spelling th-cmuir.6653943832-10462014-08-29T09:17:39Z Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate Kantaputra P.N. Malaivijitnond S. Vieira A.R. Heering J. Dotsch V. Khankasikum T. Sripathomsawat W. Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. SAM domain, a protein-protein interaction module, is found in cytoplasmic signaling proteins and several transcriptional regulatory proteins which are involved in development and differentiation. Here, we report on a SAM domain mutation (p.Asp564His) in TP63 that predisposed the patients to have nonsyndromic cleft palate and nonsyndromic cleft lip and palate. © 2011 Wiley-Liss, Inc. 2014-08-29T09:17:39Z 2014-08-29T09:17:39Z 2011 Article 15524825 10.1002/ajmg.a.34011 21567929 AJMGD http://www.scopus.com/inward/record.url?eid=2-s2.0-79956216387&partnerID=40&md5=1a3541adfb4fcfe4e353e8c69440f5e4 http://www.ncbi.nlm.nih.gov/pubmed/21567929 http://cmuir.cmu.ac.th/handle/6653943832/1046 English
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
language English
description Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. SAM domain, a protein-protein interaction module, is found in cytoplasmic signaling proteins and several transcriptional regulatory proteins which are involved in development and differentiation. Here, we report on a SAM domain mutation (p.Asp564His) in TP63 that predisposed the patients to have nonsyndromic cleft palate and nonsyndromic cleft lip and palate. © 2011 Wiley-Liss, Inc.
format Article
author Kantaputra P.N.
Malaivijitnond S.
Vieira A.R.
Heering J.
Dotsch V.
Khankasikum T.
Sripathomsawat W.
spellingShingle Kantaputra P.N.
Malaivijitnond S.
Vieira A.R.
Heering J.
Dotsch V.
Khankasikum T.
Sripathomsawat W.
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate
author_facet Kantaputra P.N.
Malaivijitnond S.
Vieira A.R.
Heering J.
Dotsch V.
Khankasikum T.
Sripathomsawat W.
author_sort Kantaputra P.N.
title Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate
title_short Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate
title_full Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate
title_fullStr Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate
title_full_unstemmed Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate
title_sort mutation in sam domain of tp63 is associated with nonsyndromic cleft lip and palate and cleft palate
publishDate 2014
url http://www.scopus.com/inward/record.url?eid=2-s2.0-79956216387&partnerID=40&md5=1a3541adfb4fcfe4e353e8c69440f5e4
http://www.ncbi.nlm.nih.gov/pubmed/21567929
http://cmuir.cmu.ac.th/handle/6653943832/1046
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