Tanner SM - Search Results

1

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: tanner sm. 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.

2

The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.

Fyfe JC, Madsen M, Højrup P, Christensen EI, Tanner SM, de la Chapelle A, He Q, Moestrup SK. Fyfe JC, et al. Among authors: tanner sm. Blood. 2004 Mar 1;103(5):1573-9. doi: 10.1182/blood-2003-08-2852. Epub 2003 Oct 23. Blood. 2004. PMID: 14576052 Free article.

3

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. Hum Mutat. 2004 Apr;23(4):327-33. doi: 10.1002/humu.20014. Hum Mutat. 2004. PMID: 15024727

4

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.

Tanner SM, Li Z, Perko JD, Oner C, Cetin M, Altay C, Yurtsever Z, David KL, Faivre L, Ismail EA, Gräsbeck R, de la Chapelle A. Tanner SM, et al. Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4130-3. doi: 10.1073/pnas.0500517102. Epub 2005 Feb 28. Proc Natl Acad Sci U S A. 2005. PMID: 15738392 Free PMC article.

5

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

Tanner SM, Aminoff M, Wright FA, Liyanarachchi S, Kuronen M, Saarinen A, Massika O, Mandel H, Broch H, de la Chapelle A. Tanner SM, et al. Nat Genet. 2003 Mar;33(3):426-9. doi: 10.1038/ng1098. Epub 2003 Feb 18. Nat Genet. 2003. PMID: 12590260

6

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.

Tanner SM, Sturm AC, Baack EC, Liyanarachchi S, de la Chapelle A. Tanner SM, et al. Orphanet J Rare Dis. 2012 Aug 28;7:56. doi: 10.1186/1750-1172-7-56. Orphanet J Rare Dis. 2012. PMID: 22929189 Free PMC article.

7

Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.

Al-Alami JR, Tanner SM, Tayeh MK, de la Chapelle A, El-Shanti H. Al-Alami JR, et al. Among authors: tanner sm. Saudi Med J. 2005 Jul;26(7):1061-4. Saudi Med J. 2005. PMID: 16047053

8

Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.

Beech CM, Liyanarachchi S, Shah NP, Sturm AC, Sadiq MF, de la Chapelle A, Tanner SM. Beech CM, et al. Among authors: tanner sm. Orphanet J Rare Dis. 2011 Nov 13;6:74. doi: 10.1186/1750-1172-6-74. Orphanet J Rare Dis. 2011. PMID: 22078000 Free PMC article.

9

Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS.

Luder AS, Tanner SM, de la Chapelle A, Walter JH. Luder AS, et al. Among authors: tanner sm. J Inherit Metab Dis. 2008 Dec;31 Suppl 3:493-6. doi: 10.1007/s10545-007-0760-2. Epub 2008 Jan 7. J Inherit Metab Dis. 2008. PMID: 18181028

10

Hereditary intrinsic factor deficiency in chaldeans.

Sturm AC, Baack EC, Armstrong MB, Schiff D, Zia A, Savasan S, de la Chapelle A, Tanner SM. Sturm AC, et al. Among authors: tanner sm. JIMD Rep. 2013;7:13-8. doi: 10.1007/8904_2012_133. Epub 2012 Mar 18. JIMD Rep. 2013. PMID: 23430489 Free PMC article.

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