1 - 25 of 28 results for author:"Bolund L." in Literature citations
Results Customize
› Repeat search in UniProtKB (35,097)
| Handmade cloned transgenic piglets expressing the nematode fat-1 gene. Zhang P., Zhang Y., Dou H., Yin J., Chen Y., Pang X., Vajta G., Bolund L., Du Y., Ma R.Z. Cell Reprogram 14:258-266(2012) · Mapped (1) |
| Development of transgenic cloned pig models of skin inflammation by DNA transposon-directed ectopic expression of human beta1 and alpha2 integrin. Staunstrup N.H., Madsen J., Primo M.N., Li J., Liu Y., Kragh P.M., Li R., Schmidt M., Purup S., Dagnaes-Hansen F. et al. PLoS ONE 7:e36658-e36658(2012) · Mapped (4) |
| Sequencing of 50 human exomes reveals adaptation to high altitude. Yi X., Liang Y., Huerta-Sanchez E., Jin X., Cuo Z.X., Pool J.E., Xu X., Jiang H., Vinckenbosch N., Korneliussen T.S. et al. Science 329:75-78(2010) · Mapped (4) |
| The sequence and de novo assembly of the giant panda genome. Li R., Fan W., Tian G., Zhu H., He L., Cai J., Huang Q., Cai Q., Li B., Bai Y. et al. Nature 463:311-317(2010) · UniProtKB (35,079) |
| Haplotype frequencies in a sub-region of chromosome 19q13.3, related to risk and prognosis of cancer, differ dramatically between ethnic groups. Schierup M.H., Mailund T., Li H., Wang J., Tjonneland A., Vogel U., Bolund L., Nexo B.A. BMC Med. Genet. 10:20-20(2009) · Mapped (15) |
| Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP. Nexo B.A., Vogel U., Olsen A., Nyegaard M., Bukowy Z., Rockenbauer E., Zhang X., Koca C., Mains M., Hansen B. et al. BMC Med. Genet. 9:56-56(2008) · Mapped (3) |
| 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 C.B., Kolvraa S., Kolvraa A., Stenbroen V., Kjeldsen M., Ensenauer R., Tein I., Matern D., Rinaldo P., Vianey-Saban C. et al. Hum. Genet. 124:43-56(2008) · Mapped (5) |
| Porcine transcriptome analysis based on 97 non-normalized cDNA libraries and assembly of 1,021,891 expressed sequence tags. Gorodkin J., Cirera S., Hedegaard J., Gilchrist M.J., Panitz F., Jorgensen C.B., Scheibye-Knudsen K., Arvin T., Lumholdt S., Sawera M. et al. Genome Biol. 8:R45.1-R45.16(2007) · UniProtKB (2) |
| 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 J.J., Nielsen M.N., Corydon T.J., Georgopoulos C., Ang D., Lundemose J.B., Niezen-Koning K. et al. J. Hum. Genet. 52:56-65(2007) · Mapped (13) |
| Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. Mantripragada K.K., Thuresson A.C., Piotrowski A., Diaz de Stahl T., Menzel U., Grigelionis G., Ferner R.E., Griffiths S., Bolund L., Mautner V. et al. J. Med. Genet. 43:28-38(2006) · Mapped (10) |
| SNP genotyping using microsphere-linked PNA and flow cytometric detection. Rockenbauer E., Petersen K., Vogel U., Bolund L., Kolvraa S., Nielsen K.V., Nexo B.A. Cytometry A 64:80-86(2005) · Mapped (4) |
| Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. Pedersen C.B., Bross P., Winter V.S., Corydon T.J., Bolund L., Bartlett K., Vockley J., Gregersen N. J. Biol. Chem. 278:47449-47458(2003) · Mapped (2) |
| Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex. Sorensen C.B., Andresen B.S., Jensen U.B., Jensen T.G., Jensen P.K., Gregersen N., Bolund L. Exp. Dermatol. 12:472-479(2003) · Mapped (2) |
| Twelve single nucleotide polymorphisms on chromosome 19q13.2-13.3: linkage disequilibria and associations with basal cell carcinoma in Danish psoriatic patients. Yin J., Vogel U., Gerdes L.U., Dybdahl M., Bolund L., Nexo B.A. Biochem. Genet. 41:27-37(2003) · Mapped (8) |
| Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter. Hansen J.J., Bross P., Westergaard M., Nielsen M.N., Eiberg H., Boerglum A.D., Mogensen J., Kristiansen K., Bolund L., Gregersen N. |
| Genomic organization, transcript variants and comparative analysis of the human nucleoporin 155 (NUP155) gene. Zhang X., Yang H., Yu J., Chen C., Zhang G., Bao J., Du Y., Kibukawa M., Li Z., Wang J. et al. |
| Human and mouse mitochondrial orthologs of bacterial ClpX. Corydon T.J., Wilsbech M., Jespersgaard C., Andresen B.S., Borglum A.D., Pedersen S., Bolund L., Gregersen N., Bross P. |
| Characterization of mouse Clpp protease cDNA, gene, and protein. Andresen B.S., Corydon T.J., Wilsbech M., Bross P., Schroeder L.D., Hindkjaer T.F., Bolund L., Gregersen N. |
| Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA. Zhang X., Yang H., Corydon M.J., Pedersen S., Korenberg J.R., Chen X.N., Laporte J., Gregersen N., Niebuhr E., Liu G. et al. Genomics 57:144-151(1999) · UniProtKB (1) |
| Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. Soerensen C.B., Ladekjaer-Mikkelsen A.-S., Andresen B.S., Brandrup F., Veien N.K., Buus S.K., Anton-Lamprecht I., Kruse T.A., Jensen P.K.A., Eiberg H. et al. J. Invest. Dermatol. 112:184-190(1999) · UniProtKB (2) |
| Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Andresen B.S., Olpin S., Poorthuis B.J.H.M., Scholte H.R., Vianey-Saban C., Wanders R., Ijlst L., Morris A., Pourfarzam M., Bartlett K. et al. Am. J. Hum. Genet. 64:479-494(1999) · UniProtKB (1) |
| 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 V.S., Corydon M.J., Corydon T.J., Rinaldo P., Ribes A., Martinez G., Bennett M.J., Vianey-Saban C., Bhala A. et al. Hum. Mol. Genet. 7:619-627(1998) · UniProtKB (1) |
| The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Andresen B.S., Bross P., Udvari S., Kirk J., Gray G., Kmoch S., Chamoles N., Knudsen I., Winter V., Wilcken B. et al. Hum. Mol. Genet. 6:695-707(1997) · UniProtKB (1) |
| Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia. Jensen H.K., Jensen T.G., Faergeman O., Jensen L.G., Andresen B.S., Corydon M.J., Andreasen P.H., Hansen P.S., Heath F., Bolund L. et al. Hum. Mutat. 9:437-444(1997) · UniProtKB (1) |
| Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Tommerup N., Schempp W., Meinecke P., Pedersen S., Bolund L., Brandt C., Goodpasture C., Guldberg P., Held K.R., Reinwein H. Nat. Genet. 4:170-174(1993) · Mapped (13) |