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DA Parry SJ Brookes CV Logan JA Poulter W El-Sayed S Al-Bahlani S Al Harasi J Sayed el M Raïf RC Shore M Dashash M Barron JE Morgan IM Carr GR Taylor CA Johnson MJ Aldred MJ Dixon JT Wright J Kirkham CF Inglehearn AJ Mighell 《American journal of human genetics》2012,91(3):565-571
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. 相似文献
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Al-Bahlani Shadia M. Lakhtakia Ritu Al-Jaaidi Samiya S. Al-Sinawi Shadia S. Abd-Elmoety Shaymaa G. Al-Khabori Murtadha Osman Anjum H. A. Al-Baimani Khalid Shalaby Asem A. 《Journal of molecular histology》2021,52(3):621-633
Journal of Molecular Histology - Breast cancer is the leading cancer worldwide among women. Traditional clinicopathological prognostic and predictive markers need refining to improve clinical... 相似文献
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