A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta
نویسندگان
چکیده
منابع مشابه
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta
Amelogenesis imperfecta (AI) describes a heterogeneous group of inherited dental enamel defects reflecting failure of normal amelogenesis. Ameloblastin (AMBN) is the second most abundant enamel matrix protein expressed during amelogenesis. The pivotal role of AMBN in amelogenesis has been confirmed experimentally using mouse models. However, no AMBN mutations have been associated with human AI....
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BACKGROUND Amelogenesis imperfecta (AI) is an inherited disorder characterized by abnormal formation of tooth enamel. Although several genes responsible for AI have been reported, not all causative genes for human AI have been identified to date. AMI rat has been reported as an autosomal recessive mutant with hypoplastic AI isolated from a colony of stroke-prone spontaneously hypertensive rat s...
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We identified a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failure segregated in an autosomal recessive fashion. Whole-exome sequencing revealed a missense mutation (c.586C>A, p.P196T) in the I-domain of integrin-β6 (ITGB6), which is consistently predicted to be pathogenic by all available programmes and is the only variant that segregates with the...
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Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective dental enamel formation. Amelotin (AMTN) is a secreted protein thought to act as a promoter of matrix mineralization in the final stage of enamel development, and is strongly expressed, almost exclusively, in maturation stage ameloblasts. Amtn overexpression and Amtn knockout mouse models have d...
متن کاملEnamel protein in smooth hypoplastic amelogenesis imperfecta.
Amelogenesis imperfecta (AI) remains a poorly understood group of hereditary enamel defects characterized by a wide array of clinical presentations. Although numerous reports have described the histological features of AI, knowledge concerning the biochemical composition of the affected enamel remains minimal. The purpose of this investigation was to examine the protein of smooth hypoplastic AI...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2020
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddaa041