期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 91, 期 3, 页码 565-571出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2012.07.020
关键词
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资金
- Wellcome Trust
- Sir Jules Thorn Award for Biomedical Research
- The Sir Jules Thorn Charitable Trust [09JTA] Funding Source: researchfish
Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf26, as a cause of recessive hypomineralized amelogenesis imperfecta (AI), a disease in which the formation of tooth enamel fails. Screening of a panel of 57 autosomal-recessive AI-affected families identified eight further families with loss-of-function mutations in C4orf26. C4orf26 encodes a putative extracellular matrix acidic phosphoprotein expressed in the enamel organ. A mineral nucleation assay showed that the protein's phosphorylated C terminus has the capacity to promote nucleation of hydroxyapatite, suggesting a possible function in enamel mineralization during amelogenesis.
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