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1.	Nikopensius, T, et al. (author) Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA) 2013 In: Journal of dental research. - : SAGE Publications. - 1544-0591 .- 0022-0345. ; 92:6, s. 507-511 Journal article (peer-reviewed)abstract Mutations in the ectodysplasin-A ( EDA) gene have been generally associated with X-linked hypohidrotic ectodermal dysplasia (XLHED). Recently, missense mutations in EDA have been reported to cause familial non-syndromic tooth agenesis. In this study, we report a novel EDA mutation in an Estonian family segregating non-syndromic tooth agenesis with variable expressivity. Affected individuals had no associated defects in other ectodermal organs. Using whole-exome sequencing, we identified a heterozygous nonsense mutation c.874G>T (p.Glu292X) in the TNF homology domain of EDA in all affected female patients. This protein-altering variant arose de novo, and the potentially causative allele was transmitted to affected offspring from the affected mother. We suggest that the dental phenotype variability described in heterozygous female carriers of EDA mutation may occur because of the differential pattern of X-chromosome inactivation, which retains reduced levels of EDA-receptor signaling in tissues involved in tooth morphogenesis. This results in selective tooth agenesis rather than XLHED phenotype. The present study broadens the mutation spectrum for this locus and demonstrates that EDA mutations may result in non-syndromic tooth agenesis in heterozygous females.
2.	Zeng, L, et al. (author) Cis-epistasis at the LPA locus and risk of cardiovascular diseases 2022 In: Cardiovascular research. - 1755-3245. ; 118:4, s. 1088-1102 Journal article (peer-reviewed)

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Muller-Myhsok, B (2); Franzen, O (2); Muller-Nurasyid, M. (2); Metspalu, A (2); Annilo, T (2); Erdmann, J. (1); show more...; Li, L. (1); Peters, A (1); Bjorkegren, JLM (1); März, W (1); Gilissen, C (1); Hoischen, A (1); Mirza-Schreiber, N (1); Nothen, MM (1); Andlauer, TFM (1); Marz, W. (1); Krjutskov, K (1); Gieger, C (1); Moebus, S (1); Schunkert, H. (1); Kastrati, A (1); Kronenberg, F (1); Laugwitz, KL (1); Kessler, T (1); Meitinger, T (1); Munz, M (1); Nöthen, MM (1); Nelson, CP (1); Björkegren, JLM (1); Samani, NJ (1); Lamina, C. (1); Strauch, K (1); Magi, R (1); Steinhagen-Thiessen, ... (1); Kals, M (1); Zeng, LY (1); Kleber, ME (1); Willenborg, C (1); Jiang, B (1); Stiller, B. (1); Zeng, L (1); Saag, M (1); Moser, S (1); Nikopensius, T (1); Jagomagi, T (1); Eelmets, M (1); Gerst-Talas, U (1); Remm, M (1); Coassin, S (1); Mack, S (1); show less...

University: Karolinska Institutet (2)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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