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Literature DB >> 15235027

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta.

P S Hart, T C Hart, M D Michalec, O H Ryu, D Simmons, S Hong, J T Wright.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2004 PMID： 15235027 PMCID： PMC1735847 DOI： 10.1136/jmg.2003.017657

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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117 in total

1. FAM83H mutations cause ADHCAI and alter intracellular protein localization.

Authors: S-K Lee; K-E Lee; T-S Jeong; Y-H Hwang; S Kim; J C-C Hu; J P Simmer; J-W Kim
Journal: J Dent Res Date: 2010-11-30 Impact factor: 6.116

2. Novel WDR72 mutation and cytoplasmic localization.

Authors: S-K Lee; F Seymen; K-E Lee; H-Y Kang; M Yildirim; E Bahar Tuna; K Gencay; Y-H Hwang; K H Nam; R J De La Garza; J C-C Hu; J P Simmer; J-W Kim
Journal: J Dent Res Date: 2010-10-11 Impact factor: 6.116

Review 3. Kallikreins - The melting pot of activity and function.

Authors: Magdalena Kalinska; Ulf Meyer-Hoffert; Tomasz Kantyka; Jan Potempa
Journal: Biochimie Date: 2015-09-25 Impact factor: 4.079

4. Evolution of Klk4 and enamel maturation in eutherians.

Authors: Kazuhiko Kawasaki; Jan C-C Hu; James P Simmer
Journal: Biol Chem Date: 2014-09 Impact factor: 3.915

5. Identification of novel genes expressed during mouse tooth development by microarray gene expression analysis.

Authors: Trevor J Pemberton; Fang-Yuan Li; Shoji Oka; Gustavo A Mendoza-Fandino; Ya-Hsuan Hsu; Pablo Bringas; Yang Chai; Malcolm L Snead; Ruty Mehrian-Shai; Pragna I Patel
Journal: Dev Dyn Date: 2007-08 Impact factor: 3.780

Review 6. New insights into the functional mechanisms and clinical applications of the kallikrein-related peptidase family.

Authors: Nashmil Emami; Eleftherios P Diamandis
Journal: Mol Oncol Date: 2007-09-15 Impact factor: 6.603

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta.

1. FAM83H mutations cause ADHCAI and alter intracellular protein localization.

2. Novel WDR72 mutation and cytoplasmic localization.

Review 3. Kallikreins - The melting pot of activity and function.

4. Evolution of Klk4 and enamel maturation in eutherians.

5. Identification of novel genes expressed during mouse tooth development by microarray gene expression analysis.

Review 6. New insights into the functional mechanisms and clinical applications of the kallikrein-related peptidase family.

7. Mmp-20 and Klk4 cleavage site preferences for amelogenin sequences.

8. Amelogenesis imperfecta: genotype-phenotype studies in 71 families.

9. Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.

10. MMP20 hemopexin domain mutation in amelogenesis imperfecta.