Krahe R - Search Results

1

The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein.

Kozyraki R, Fyfe J, Kristiansen M, Gerdes C, Jacobsen C, Cui S, Christensen EI, Aminoff M, de la Chapelle A, Krahe R, Verroust PJ, Moestrup SK. Kozyraki R, et al. Among authors: krahe r. Nat Med. 1999 Jun;5(6):656-61. doi: 10.1038/9504. Nat Med. 1999. PMID: 10371504

2

Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.

Kristiansen M, Aminoff M, Jacobsen C, de La Chapelle A, Krahe R, Verroust PJ, Moestrup SK. Kristiansen M, et al. Among authors: krahe r. Blood. 2000 Jul 15;96(2):405-9. Blood. 2000. PMID: 10887099 Free article.

3

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

Aminoff M, Carter JE, Chadwick RB, Johnson C, Gräsbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, de la Chapelle A, Krahe R. Aminoff M, et al. Among authors: krahe r. Nat Genet. 1999 Mar;21(3):309-13. doi: 10.1038/6831. Nat Genet. 1999. PMID: 10080186

4

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

5

Mutations in KERA, encoding keratocan, cause cornea plana.

Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivelä T, Kucherlapati R, Forsius H, de la Chapelle A. Pellegata NS, et al. Among authors: krahe r. Nat Genet. 2000 May;25(1):91-5. doi: 10.1038/75664. Nat Genet. 2000. PMID: 10802664

6

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.

Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, de la Chapelle A, Lehesjoki AE. Virtaneva K, et al. Among authors: krahe r. Nat Genet. 1997 Apr;15(4):393-6. doi: 10.1038/ng0497-393. Nat Genet. 1997. PMID: 9090386

7

The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online.

Virtaneva K, Paulin L, Krahe R, de la Chapelle A, Lehesjoki AE. Virtaneva K, et al. Among authors: krahe r. Hum Mutat. 1998;12(3):218. Hum Mutat. 1998. PMID: 10660338

8

Expression profiling reveals fundamental biological differences in acute myeloid leukemia with isolated trisomy 8 and normal cytogenetics.

Virtaneva K, Wright FA, Tanner SM, Yuan B, Lemon WJ, Caligiuri MA, Bloomfield CD, de La Chapelle A, Krahe R. Virtaneva K, et al. Among authors: krahe r. Proc Natl Acad Sci U S A. 2001 Jan 30;98(3):1124-9. doi: 10.1073/pnas.98.3.1124. Proc Natl Acad Sci U S A. 2001. PMID: 11158605 Free PMC article.

9

Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon.

Frühwald MC, O'Dorisio MS, Rush LJ, Reiter JL, Smiraglia DJ, Wenger G, Costello JF, White PS, Krahe R, Brodeur GM, Plass C. Frühwald MC, et al. Among authors: krahe r. J Med Genet. 2000 Jul;37(7):501-9. doi: 10.1136/jmg.37.7.501. J Med Genet. 2000. PMID: 10882752 Free PMC article.

10

Physical and transcript map of a 2-Mb region in Xp22.1 containing candidate genes for X-linked mental retardation and short stature.

Zhang S, Krahe R. Zhang S, et al. Among authors: krahe r. Genomics. 2002 Mar;79(3):274-7. doi: 10.1006/geno.2002.6702. Genomics. 2002. PMID: 11863356

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