Literature DB >> 34028942

Novel homozygous KREMEN1 mutation causes ectodermal dysplasia.

Yejin Lee1, Hong Zhang2, Figen Seymen3, Mine Koruyucu3, Yelda Kasimoglu3, Zang Hee Lee4, Jan C-C Hu2, James P Simmer2, Jung-Wook Kim1,5.   

Abstract

Entities:  

Keywords:  zzm321990KREMEN1zzm321990; ectodermal dysplasia; mutation; oligodontia; syndromic

Mesh：

Substances：

Year:  2021        PMID： 34028942      PMCID： PMC9245855          DOI： 10.1111/odi.13921

Source DB:  PubMed          Journal:  Oral Dis        ISSN： 1354-523X            Impact factor:   4.068


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  9 in total

1.  Epithelial-mesenchymal signalling regulating tooth morphogenesis.

Authors:  Irma Thesleff
Journal:  J Cell Sci       Date:  2003-05-01       Impact factor: 5.285

Review 2.  Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.

Authors:  John Timothy Wright; Mary Fete; Holm Schneider; Madelaine Zinser; Maranke I Koster; Angus J Clarke; Smail Hadj-Rabia; Gianluca Tadini; Nina Pagnan; Atila F Visinoni; Birgitta Bergendal; Becky Abbott; Timothy Fete; Clark Stanford; Clayton Butcher; Rena N D'Souza; Virginia P Sybert; Maria I Morasso
Journal:  Am J Med Genet A       Date:  2019-01-31       Impact factor: 2.802

3.  Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia.

Authors:  N Intarak; T Theerapanon; A Srijunbarl; K Suphapeetiporn; T Porntaveetus; V Shotelersuk
Journal:  Br J Dermatol       Date:  2018-06-13       Impact factor: 9.302

4.  Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

Authors:  N Dinckan; R Du; L E Petty; Z Coban-Akdemir; S N Jhangiani; I Paine; E H Baugh; A P Erdem; H Kayserili; H Doddapaneni; J Hu; D M Muzny; E Boerwinkle; R A Gibbs; J R Lupski; Z O Uyguner; J E Below; A Letra
Journal:  J Dent Res       Date:  2017-08-16       Impact factor: 6.116

5.  Context-dependent activation or inhibition of Wnt-beta-catenin signaling by Kremen.

Authors:  Christopher S Cselenyi; Ethan Lee
Journal:  Sci Signal       Date:  2008-02-26       Impact factor: 8.192

6.  Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families.

Authors:  Yasmin A Issa; Lara Kamal; Amal Abu Rayyan; Dima Dweik; Sarah Pierce; Ming K Lee; Mary-Claire King; Tom Walsh; Moien Kanaan
Journal:  Eur J Hum Genet       Date:  2016-04-06       Impact factor: 4.246

Review 7.  Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis.

Authors:  Miao Yu; Sing-Wai Wong; Dong Han; Tao Cai
Journal:  Oral Dis       Date:  2018-07-23       Impact factor: 3.511

8.  Novel TSPEAR mutations in non-syndromic oligodontia.

Authors:  Ji-Soo Song; Miah Bae; Jung-Wook Kim
Journal:  Oral Dis       Date:  2020-03-19       Impact factor: 3.511

9.  Two novel mutations in MSX1 causing oligodontia.

Authors:  Le Yang; Jia Liang; Haitang Yue; Zhuan Bian
Journal:  PLoS One       Date:  2020-01-08       Impact factor: 3.240
  9 in total

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