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A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, Rice GI, Erlandsen H, Kehl HG, Thiele H, Nürnberg P, Höhne W, Crow YJ, Feigenbaum A, Hennekam RC. Rutsch F, et al. Among authors: nitschke y. Am J Hum Genet. 2015 Feb 5;96(2):275-82. doi: 10.1016/j.ajhg.2014.12.014. Epub 2015 Jan 22. Am J Hum Genet. 2015. PMID: 25620204 Free PMC article.
Lmbrd1 expression is essential for the initiation of gastrulation.
Buers I, Pennekamp P, Nitschke Y, Lowe C, Skryabin BV, Rutsch F. Buers I, et al. Among authors: nitschke y. J Cell Mol Med. 2016 Aug;20(8):1523-33. doi: 10.1111/jcmm.12844. Epub 2016 Apr 8. J Cell Mol Med. 2016. PMID: 27061115 Free PMC article.
Hereditary Disorders of Cardiovascular Calcification.
Rutsch F, Buers I, Nitschke Y. Rutsch F, et al. Among authors: nitschke y. Arterioscler Thromb Vasc Biol. 2021 Jan;41(1):35-47. doi: 10.1161/ATVBAHA.120.315577. Epub 2020 Nov 12. Arterioscler Thromb Vasc Biol. 2021. PMID: 33176451 Free article. Review.
37 results