Literature DB >> 24756937

Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.

Piranit Nik Kantaputra1, Chotika Bongkochwilawan, Massupa Kaewgahya, Atsushi Ohazama, Hulya Kayserili, Arzu Pinar Erdem, Oya Aktoren, Yeliz Guven.   

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Year:  2014        PMID: 24756937     DOI: 10.1002/ajmg.a.36579

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  10 in total

1.  Transcriptome analysis of gingival tissues of enamel-renal syndrome.

Authors:  Yi-Ping Wang; Hung-Ying Lin; Wen-Lan Zhong; James P Simmer; Shih-Kai Wang
Journal:  J Periodontal Res       Date:  2019-05-27       Impact factor: 4.419

2.  Periodontal disease and FAM20A mutations.

Authors:  Piranit Nik Kantaputra; Chotika Bongkochwilawan; Mark Lubinsky; Supansa Pata; Massupa Kaewgahya; Huei Jinn Tong; James R Ketudat Cairns; Yeliz Guven; Nipon Chaisrisookumporn
Journal:  J Hum Genet       Date:  2017-03-16       Impact factor: 3.172

3.  Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report.

Authors:  Dhvani Bhesania; Ankit Arora; Sonali Kapoor
Journal:  Imaging Sci Dent       Date:  2015-09-09

4.  A secretory kinase complex regulates extracellular protein phosphorylation.

Authors:  Jixin Cui; Junyu Xiao; Vincent S Tagliabracci; Jianzhong Wen; Meghdad Rahdar; Jack E Dixon
Journal:  Elife       Date:  2015-03-19       Impact factor: 8.140

5.  Identification of genes required for eye development by high-throughput screening of mouse knockouts.

Authors:  Bret A Moore; Brian C Leonard; Lionel Sebbag; Sydney G Edwards; Ann Cooper; Denise M Imai; Ewan Straiton; Luis Santos; Christopher Reilly; Stephen M Griffey; Lynette Bower; David Clary; Jeremy Mason; Michel J Roux; Hamid Meziane; Yann Herault; Colin McKerlie; Ann M Flenniken; Lauryl M J Nutter; Zorana Berberovic; Celeste Owen; Susan Newbigging; Hibret Adissu; Mohammed Eskandarian; Chih-Wei Hsu; Sowmya Kalaga; Uchechukwu Udensi; Chinwe Asomugha; Ritu Bohat; Juan J Gallegos; John R Seavitt; Jason D Heaney; Arthur L Beaudet; Mary E Dickinson; Monica J Justice; Vivek Philip; Vivek Kumar; Karen L Svenson; Robert E Braun; Sara Wells; Heather Cater; Michelle Stewart; Sharon Clementson-Mobbs; Russell Joynson; Xiang Gao; Tomohiro Suzuki; Shigeharu Wakana; Damian Smedley; J K Seong; Glauco Tocchini-Valentini; Mark Moore; Colin Fletcher; Natasha Karp; Ramiro Ramirez-Solis; Jacqueline K White; Martin Hrabe de Angelis; Wolfgang Wurst; Sara M Thomasy; Paul Flicek; Helen Parkinson; Steve D M Brown; Terrence F Meehan; Patsy M Nishina; Stephen A Murray; Mark P Krebs; Ann-Marie Mallon; K C Kent Lloyd; Christopher J Murphy; Ala Moshiri
Journal:  Commun Biol       Date:  2018-12-21

Review 6.  The ABCs of the atypical Fam20 secretory pathway kinases.

Authors:  Carolyn A Worby; Joshua E Mayfield; Adam J Pollak; Jack E Dixon; Sourav Banerjee
Journal:  J Biol Chem       Date:  2021-01-08       Impact factor: 5.157

7.  FAM20A binds to and regulates FAM20C localization.

Authors:  Yoshio Ohyama; Ju-Hsien Lin; Nattanan Govitvattana; I-Ping Lin; Sundharamani Venkitapathi; Ahmed Alamoudi; Dina Husein; Chunying An; Hak Hotta; Masaru Kaku; Yoshiyuki Mochida
Journal:  Sci Rep       Date:  2016-06-13       Impact factor: 4.379

8.  A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.

Authors:  James A Poulter; Claire E L Smith; Gina Murrillo; Sandra Silva; Sally Feather; Marianella Howell; Laura Crinnion; David T Bonthron; Ian M Carr; Christopher M Watson; Chris F Inglehearn; Alan J Mighell
Journal:  Mol Genet Genomic Med       Date:  2015-10-04       Impact factor: 2.183

9.  Structure of Fam20A reveals a pseudokinase featuring a unique disulfide pattern and inverted ATP-binding.

Authors:  Jixin Cui; Qinyu Zhu; Hui Zhang; Michael A Cianfrocco; Andres E Leschziner; Jack E Dixon; Junyu Xiao
Journal:  Elife       Date:  2017-04-22       Impact factor: 8.140

10.  Quantification of FAM20A in human milk and identification of calcium metabolism proteins.

Authors:  Vaksha Patel; Enriko Klootwijk; Gail Whiting; Detlef Bockenhauer; Keith Siew; Stephen Walsh; Markus Bleich; Nina Himmerkus; Graciana Jaureguiberry; Naomi Issler; Jasminka Godovac-Zimmermann; Robert Kleta; Jun Wheeler
Journal:  Physiol Rep       Date:  2021-12
  10 in total

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