Root dentin anomaly and a PLG mutation

© 2014 Elsevier Masson SAS. We report a Thai girl affected with plasminogen deficiency, Type I. Ligneous conjunctivitis was first observed when she was one-month-old. The newly recognized findings include tapered incisor roots as a result of thin root dentin, generalized short tooth roots, and mandi...

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Main Authors: Napaporn Tananuvat, Pimlak Charoenkwan, Atsushi Ohazama, James R. Ketuda Cairns, Massupa Kaewgahya, Piranit Nik Kantaputra
Format: Journal
Published: 2018
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spelling th-cmuir.6653943832-532952018-09-04T09:59:20Z Root dentin anomaly and a PLG mutation Napaporn Tananuvat Pimlak Charoenkwan Atsushi Ohazama James R. Ketuda Cairns Massupa Kaewgahya Piranit Nik Kantaputra Biochemistry, Genetics and Molecular Biology Medicine © 2014 Elsevier Masson SAS. We report a Thai girl affected with plasminogen deficiency, Type I. Ligneous conjunctivitis was first observed when she was one-month-old. The newly recognized findings include tapered incisor roots as a result of thin root dentin, generalized short tooth roots, and mandibular prognathism. Mutation analysis of PLG demonstrated homozygous c.1193G>A missense mutation. The parents were heterozygous for c.1193G>A mutation. The c.1193G>A mutation is novel and predicted to cause amino acid substitution p.Cys398Tyr. Thin root dentin in the patient who was affected with PLG mutation and immunolocalization of Plg during early root development in mice imply the role of plasminogen in root dentin formation. 2018-09-04T09:46:31Z 2018-09-04T09:46:31Z 2014-01-01 Journal 18780849 17697212 2-s2.0-84918834387 10.1016/j.ejmg.2014.09.006 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84918834387&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/53295
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
Napaporn Tananuvat
Pimlak Charoenkwan
Atsushi Ohazama
James R. Ketuda Cairns
Massupa Kaewgahya
Piranit Nik Kantaputra
Root dentin anomaly and a PLG mutation
description © 2014 Elsevier Masson SAS. We report a Thai girl affected with plasminogen deficiency, Type I. Ligneous conjunctivitis was first observed when she was one-month-old. The newly recognized findings include tapered incisor roots as a result of thin root dentin, generalized short tooth roots, and mandibular prognathism. Mutation analysis of PLG demonstrated homozygous c.1193G>A missense mutation. The parents were heterozygous for c.1193G>A mutation. The c.1193G>A mutation is novel and predicted to cause amino acid substitution p.Cys398Tyr. Thin root dentin in the patient who was affected with PLG mutation and immunolocalization of Plg during early root development in mice imply the role of plasminogen in root dentin formation.
format Journal
author Napaporn Tananuvat
Pimlak Charoenkwan
Atsushi Ohazama
James R. Ketuda Cairns
Massupa Kaewgahya
Piranit Nik Kantaputra
author_facet Napaporn Tananuvat
Pimlak Charoenkwan
Atsushi Ohazama
James R. Ketuda Cairns
Massupa Kaewgahya
Piranit Nik Kantaputra
author_sort Napaporn Tananuvat
title Root dentin anomaly and a PLG mutation
title_short Root dentin anomaly and a PLG mutation
title_full Root dentin anomaly and a PLG mutation
title_fullStr Root dentin anomaly and a PLG mutation
title_full_unstemmed Root dentin anomaly and a PLG mutation
title_sort root dentin anomaly and a plg mutation
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84918834387&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/53295
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