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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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 |
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Biochemistry, Genetics and Molecular Biology Medicine |
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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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