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Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3).
Nykjaer A, Fyfe JC, Kozyraki R, Leheste JR, Jacobsen C, Nielsen MS, Verroust PJ, Aminoff M, de la Chapelle A, Moestrup SK, Ray R, Gliemann J, Willnow TE, Christensen EI. Nykjaer A, et al. Among authors: de la chapelle a. Proc Natl Acad Sci U S A. 2001 Nov 20;98(24):13895-900. doi: 10.1073/pnas.241516998. Proc Natl Acad Sci U S A. 2001. PMID: 11717447 Free PMC article.
Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo.
He Q, Madsen M, Kilkenney A, Gregory B, Christensen EI, Vorum H, Højrup P, Schäffer AA, Kirkness EF, Tanner SM, de la Chapelle A, Giger U, Moestrup SK, Fyfe JC. He Q, et al. Among authors: de la chapelle a. Blood. 2005 Aug 15;106(4):1447-53. doi: 10.1182/blood-2005-03-1197. Epub 2005 Apr 21. Blood. 2005. PMID: 15845892 Free PMC article.
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.
Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, Järvinen H, Kristo P, Pelin K, Ridanpää M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA. Hemminki A, et al. Among authors: de la chapelle a. Nature. 1998 Jan 8;391(6663):184-7. doi: 10.1038/34432. Nature. 1998. PMID: 9428765
Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.
Tanner SM, Li Z, Bisson R, Acar C, Oner C, Oner R, Cetin M, Abdelaal MA, Ismail EA, Lissens W, Krahe R, Broch H, Gräsbeck R, de la Chapelle A. Tanner SM, et al. Among authors: de la chapelle a. Hum Mutat. 2004 Apr;23(4):327-33. doi: 10.1002/humu.20014. Hum Mutat. 2004. PMID: 15024727
669 results