... to modifier genes, as human patients with a mutation in an enamel protein gene causing the enamel defect amelogenesis imperfecta (AI) can also have varied appearance of dentitions within a kindred. Enamel density measurements varied for all WT inbred strains midway during incisor development. Enamel thickness...

... controls in mouse models of amelogenesis imperfecta using novel measurement approaches. Ten hemi-mandibles and incisors were dissected from each group of Amelx WT , Amelx X/Y64H , Amelx Y/Y64H , Amelx Y64H/Y64H , and Enam WT , Enam Rgsc395 heterozygous and Enam Rgsc395 homozygous mice. Their macro...

...Y.L. Song; C.N. Wang; C.Z. Zhang; K. Yang; Z. Bian Background: Mutations in 6 genes have been identified as being part of the etiology of amelogenesis imperfecta (AI) with various phenotypes in an isolated condition. Among them the FAM83H gene is the major contributor to the etiology of AI...

...J. Timothy Wright; Melody Torain; Kimberly Long; Kim Seow; Peter Crawford; Michael J. Aldred; P. Suzanne Hart; Tom C. Hart Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of enamel. Six genes are known to cause AI (AMELX, ENAM, MMP20, KLK4, FAM83H...

..., instructions or products referred to in the content or advertisements. Bone morphogenetic protein 2 Conditional knockout Enamel formation Amelogenesis imperfecta National Institutes of Health (NIH) 10.13039/100000002 Tooth development is a highly organized process involving...

...Keith M. Bromley; Rajamani Lakshminarayanan; Ya-Ping Lei; Malcolm L. Snead; Janet Moradian-Oldak Two point mutations (T21I and P40T) within amelogenin have been identified from human DNA sequences in 2 instances of amelogenesis imperfecta. We studied the folding and self-assembly of recombinant...

...W. El-Sayed; R.C. Shore; D.A. Parry; C.F. Inglehearn; A.J. Mighell Background: Mutations in WDR72 have been identified in autosomal recessive hypomaturation amelogenesis imperfecta (AI). Objective: to describe a novel WDR72 mutation and report the ultrastructural enamel phenotype associated...

...R.C. Shore; B. Bäckman; C. Elcock; A.H. Brook; S.J. Brookes; J. Kirkham In a group of families in northern Sweden, a mutation in the ENAM gene (predicted to produce a highly truncated protein) results in the local hypoplastic form of autosomal dominant amelogenesis imperfecta. In this study...

...W. El-Sayed; R.C. Shore; D.A. Parry; C.F. Inglehearn; A.J. Mighell Background: Nonsense mutations in FAM83H are a recently described underlying cause of autosomal dominant (AD) hypocalcified amelogenesis imperfecta (AI). Objective: This study aims to report a novel c.1374C>A p.Y458X nonsense...

...J. Timothy Wright; Thomas C. Hart; P. Suzanne Hart; Darrin Simmons; Cynthia Suggs; Bill Daley; Jim Simmer; Jan Hu; John D. Bartlett; Yong Li; Zhi-An Yuan; W. Kim Seow; Carolyn W. Gibson Amelogenesis imperfecta (AI) is caused by AMEL, ENAM, MMP20 and KLK4 gene mutations. Mice lacking expression...

... of amelogenesis is poorly understood, but requires the activities of multiple components that are uniquely important for dental enamel formation. Amelogenesis imperfecta (AI) is a collective designation for the variety of inherited conditions displaying isolated enamel malformations, but the designation is also...

... or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Amelogenin Amelogenesis imperfecta...

... to alter the properties of the enamel extracellular matrix to an extent that the hierarchical structure of mature enamel is altered. Amelogenin Amelogenesis imperfecta Biomineralization Odontogenesis Transgenics 28 1 2004 © 2004 S. Karger AG, Basel 2004 Copyright / Drug...