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:	Piranit N. Kantaputra, Sutti Malaivijitnond, Alexandre R. Vieira, Jan Heering, Volker Dötsch, Theerapong Khankasikum, Warissara Sripathomsawat
Format:	Journal
Published:	2018
Subjects:	Biochemistry, Genetics and Molecular Biology Medicine
Online Access:	https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=79956216387&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/49717
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Institution:	Chiang Mai University

id	th-cmuir.6653943832-49717
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spelling	th-cmuir.6653943832-497172018-09-04T04:26:48Z Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate Piranit N. Kantaputra Sutti Malaivijitnond Alexandre R. Vieira Jan Heering Volker Dötsch Theerapong Khankasikum Warissara Sripathomsawat Biochemistry, Genetics and Molecular Biology Medicine 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. 2018-09-04T04:05:53Z 2018-09-04T04:05:53Z 2011-06-01 Journal 15524833 15524825 2-s2.0-79956216387 10.1002/ajmg.a.34011 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=79956216387&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/49717
institution	Chiang Mai University
building	Chiang Mai University Library
country	Thailand
collection	CMU Intellectual Repository
topic	Biochemistry, Genetics and Molecular Biology Medicine
spellingShingle	Biochemistry, Genetics and Molecular Biology Medicine Piranit N. Kantaputra Sutti Malaivijitnond Alexandre R. Vieira Jan Heering Volker Dötsch Theerapong Khankasikum Warissara Sripathomsawat Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate
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	Journal
author	Piranit N. Kantaputra Sutti Malaivijitnond Alexandre R. Vieira Jan Heering Volker Dötsch Theerapong Khankasikum Warissara Sripathomsawat
author_facet	Piranit N. Kantaputra Sutti Malaivijitnond Alexandre R. Vieira Jan Heering Volker Dötsch Theerapong Khankasikum Warissara Sripathomsawat
author_sort	Piranit N. Kantaputra
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	2018
url	https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=79956216387&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/49717
_version_	1681423460305207296

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

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