Bolund L - Search Results

1

LDL receptor-GFP fusion proteins: new tools for the characterisation of disease-causing mutations in the LDL receptor gene.

Holst HU, Dagnaes-Hansen F, Corydon TJ, Andreasen PH, Jørgensen MM, Kølvraa S, Bolund L, Jensen TG. Holst HU, et al. Among authors: bolund l. Eur J Hum Genet. 2001 Nov;9(11):815-22. doi: 10.1038/sj.ejhg.5200718. Eur J Hum Genet. 2001. PMID: 11781697

2

Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer.

Holm DA, Dagnaes-Hansen F, Simonsen H, Gregersen N, Bolund L, Jensen TG, Corydon TJ. Holm DA, et al. Among authors: bolund l. Mol Genet Metab. 2003 Apr;78(4):250-8. doi: 10.1016/s1096-7192(03)00038-6. Mol Genet Metab. 2003. PMID: 12706376

3

Rapid characterization of disease-causing mutations in the low density lipoprotein receptor (LDL-R) gene by overexpression in COS cells.

Jensen TG, Andresen BS, Jensen HK, Jensen LG, Heath F, Pedersen S, Nielsen V, Jensen UB, Lund TB, Gregersen N, Kølvraa S, Bolund L. Jensen TG, et al. Among authors: bolund l. Z Gastroenterol. 1996 Jun;34 Suppl 3:9-11. Z Gastroenterol. 1996. PMID: 8767445

4

A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein.

Jensen HK, Holst H, Jensen LG, Jørgensen MM, Andreasen PH, Jensen TG, Andresen BS, Heath F, Hansen PS, Neve S, Kristiansen K, Faergeman O, Kølvraa S, Bolund L, Gregersen N. Jensen HK, et al. Among authors: bolund l. Atherosclerosis. 1997 May;131(1):67-72. doi: 10.1016/s0021-9150(96)06059-5. Atherosclerosis. 1997. PMID: 9180246

5

Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G --> A splice site mutation in the low-density lipoprotein receptor gene.

Jensen HK, Jensen LG, Holst HU, Andreasen PH, Hansen PS, Larsen ML, Kølvraa S, Bolund L, Gregersen N, Faergeman O. Jensen HK, et al. Among authors: bolund l. Clin Genet. 1999 Nov;56(5):378-88. doi: 10.1034/j.1399-0004.1999.560506.x. Clin Genet. 1999. PMID: 10668928

6

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.

Bross P, Li Z, Hansen J, Hansen JJ, Nielsen MN, Corydon TJ, Georgopoulos C, Ang D, Lundemose JB, Niezen-Koning K, Eiberg H, Yang H, Kølvraa S, Bolund L, Gregersen N. Bross P, et al. Among authors: bolund l. J Hum Genet. 2007;52(1):56-65. doi: 10.1007/s10038-006-0080-7. Epub 2006 Oct 27. J Hum Genet. 2007. PMID: 17072495

7

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N. Pedersen CB, et al. Among authors: bolund l. Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4. Hum Genet. 2008. PMID: 18523805

8

Production of retroviral vectors in primary human keratinocytes after DNA-mediated gene transfer leads to prolonged gene expression.

Jensen TG, Jensen UB, Bolund L. Jensen TG, et al. Among authors: bolund l. Acta Derm Venereol. 2003;83(2):83-7. doi: 10.1080/00015550310007391. Acta Derm Venereol. 2003. PMID: 12735633 Free article.

9

Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus.

Christensen JH, Siggaard C, Corydon TJ, Robertson GL, Gregersen N, Bolund L, Rittig S. Christensen JH, et al. Among authors: bolund l. Clin Endocrinol (Oxf). 2004 Jan;60(1):125-36. doi: 10.1111/j.1365-2265.2004.01953.x. Clin Endocrinol (Oxf). 2004. PMID: 14678298

10

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.

Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kølvraa S. Gregersen N, et al. Among authors: bolund la. Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619. Hum Mol Genet. 1998. PMID: 9499414

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