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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta
American Journal of Human Genetics, Volume 91, No. 3, Year 2012
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Description
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. © 2012 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3511980/bin/mmc1.pdf
Authors & Co-Authors
Parry, David A.
United Kingdom, Leeds
St James's University Hospital
Brookes, Steven J.
United Kingdom, Leeds
University of Leeds
Logan, Clare V.
United Kingdom, Leeds
St James's University Hospital
Poulter, James A.
United Kingdom, Leeds
St James's University Hospital
El-Sayed, W. Shaaban
United Kingdom, Leeds
St James's University Hospital
United Kingdom, Leeds
University of Leeds
Egypt, Ismailia
Suez Canal University
Al-Bahlani, Suhaila
Oman, Muscat
Al Nahdha Hospital
Al harasi, Sharifa
Oman
Military Dental Centre
Sayed, Jihad
United Kingdom, Leeds
University of Leeds
Raïf, El Mostafa
United Kingdom, Leeds
University of Leeds
Shore, Roger C.
United Kingdom, Leeds
University of Leeds
Dashash, Mayssoon
Syrian Arab Republic, Damascus
Damascus University
Barron, Martin
United Kingdom, Manchester
Faculty of Biology, Medicine and Health
Morgan, Joanne E.
United Kingdom, Leeds
St James's University Hospital
Carr, Ian M.
United Kingdom, Leeds
St James's University Hospital
Taylor, Graham Roy
United Kingdom, Leeds
St James's University Hospital
Johnson, Colin A.
United Kingdom, Leeds
St James's University Hospital
Aldred, Michael J.
Australia, Heidelberg
Dorevitch Pathology
Dixon, Mike
United Kingdom, Manchester
Faculty of Biology, Medicine and Health
Wright, J. Tim
United States, Chapel Hill
Unc-ch Adams School of Dentistry
Kirkham, Jennifer
United Kingdom, Leeds
University of Leeds
Inglehearn, Chris F.
United Kingdom, Leeds
St James's University Hospital
Mighell, Alan J.
United Kingdom, Leeds
St James's University Hospital
United Kingdom, Leeds
University of Leeds
Statistics
Citations: 88
Authors: 22
Affiliations: 9
Identifiers
Doi:
10.1016/j.ajhg.2012.07.020
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Genetics And Genomics