Zobrazeno 1 - 10 of 36 pro vyhledávání: '"L G, Jensen"'
1
Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation
Autor: Anders D. Børglum, Sven Poulsen, Hans Gjørup, Jens Michael Hertz, Inger Juncker, L. G. Jensen, Mette Nyegaard, Dorte Haubek
Publikováno v: International Journal of Paediatric Dentistry. 21:407-412
BACKGROUND. Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI) is a disease with severe dental manifestations. OBJECTIVES. The aims were by means of a genome-wide linkage scan to search for the gene underlying the ADHCAI phenotype in a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a05853783181af12c639dc500fb7552
https://doi.org/10.1111/j.1365-263x.2011.01142.x
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2
Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease
Autor: Peter Steen Hansen, Ole Faergeman, L. G. Jensen, M. J. Kristensen, Niels Gregersen, L. Lemming, Lars Bolund, Margrethe Kjeldsen, I. C. Klausen, Henrik Jensen
Publikováno v: Jensen, H K, Hansen, P S, Jensen, L G, Kristensen, M J, Klausen, I C, Kjeldsen, M, Lemming, L, Bolund, L, Gregersen, N & Færgeman, O 1995, ' Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease ', Clinical Genetics, vol. 48, no. 1, pp. 23-28 . https://doi.org/10.1111/j.1399-0004.1995.tb04049.x
Europe PubMed Central
In a Danish family highly susceptible to ischemic heart disease, hyperlipidemia did not simply cosegregate with a previously undescribed 10 bp deletion in the LDL receptor gene causing heterozygous familial hypercholesterolemia (FH). This mutation, d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b590a980d70f7b37b6bc59b207b986aa
https://doi.org/10.1111/j.1399-0004.1995.tb04049.x
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3
No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes
Autor: Dorte Damgaard, Jesper M. Jensen, Henrik Jensen, L. G. Jensen, Niels Gregersen, Mogens Lytken Larsen, Vibeke Reiche Soerensen, Ole Faergeman
Publikováno v: Aarhus University
Damgaard, D, Jensen, J M, Larsen, M L, Sørensen, V R, Jensen, H K, Gregersen, N, Jensen, L G & Færgeman, O 2004, ' No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenetic mutations in the LDL receptor and apoB genes ', Atherosclerosis, vol. 177, no. 2, pp. 415-422 .
A locus on chromosome 1p34.1-p32 has been linked to autosomal dominant Familial Hypercholesterolemia (FH) and is termed the third FH locus. We tested whether this third FH locus is linked to the FH phenotype in 20 Danish families, with 158 members, w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66a8a1bfe9e25ec18fc6e00ca7b1f1e4
https://doi.org/10.1016/j.atherosclerosis.2004.07.028
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4
Profound endothelial damage predicts impending organ failure and death in sepsis
Autor: Mads H. Andersen, Katrin Thormar, Peter Søe-Jensen, Anne L. G. Jensen, Morten H. Bestle, A Cozzi-Lepri, Jens-Ulrik Stæhr Jensen, Maria Egede Johansen, Pär I. Johansson, Thomas Mohr, Bettina Lundgren, Sisse R. Ostrowski, Lars Hein, Jens D Lundgren, Morten Steensen
Publikováno v: Seminars in thrombosis and hemostasis. 41(1)
Endothelial damage contributes to organ failure and mortality in sepsis, but the extent of the contribution remains poorly quantified. Here, we examine the association between biomarkers of superficial and profound endothelial damage (syndecan-1 and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46bc36e2412c75c2d439ec9008cf0778
https://pubmed.ncbi.nlm.nih.gov/25590523
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5
Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592+5G→A splice site mutation in the low-density lipoprotein receptor gene
Autor: L. G. Jensen, Per Hove Andreasen, Henrik Jensen, Peter S. Hansen, Mogens Lytken Larsen, Henrik Uffe Holst, Ole Faergeman, Steen Kølvraa, Niels Gregersen, Lars Bolund
Publikováno v: Clinical Genetics. 56:379-389
In the present study, we have characterized a unique splice donor G to A substitution in the moderately conserved + 5 position in intron 10 of the low-density lipoprotein (LDL) receptor gene. In two Danish families, carriers of the 1592 + 5G --> A mu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e508b6a759ba49f36cc2b2644369ce8c
https://doi.org/10.1034/j.1399-0004.1999.560506.x
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6
Two mutations in the same low‐density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia
Autor: Ole Faergeman, L. G. Jensen, Henrik Jensen, Thomas G. Jensen, Morten J. Corydon, Per Hove Andreasen, Finn Heath, Peter Steen Hansen, Niels Gregersen, Brage S. Andresen, Lars Bolund
Publikováno v: Human Mutation. 9:437-444
Mutations in genes are not necessarily pathogenic. Expression of mutant genes in cells can therefore be required to demonstrate that mutations in fact disturb protein function. This applies especially to missense mutations, which cause an amino acid
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::085b7d7abee91cc3626cfff9e533308f
https://doi.org/10.1002/(sici)1098-1004(1997)9:5<437::aid-humu10>3.3.co
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7
High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing
Autor: L. G. Jensen, Henrik Jensen, Peter Steen Hansen, Ole Faergeman, Niels Gregersen
Publikováno v: Clinical Chemistry. 42:1140-1146
We designed oligonucleotide primer pairs to amplify the promoter region, the translated exon sequences, and the flanking intron sequences of all 18 exons of the LDL receptor gene to compare the ability of the PCR single-strand conformation polymorphi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f88fbfc6b264aae359a0b16e944f7807
https://doi.org/10.1093/clinchem/42.8.1140
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8
Allele-specific measurement of low-density lipoprotein receptor transcript levels
Autor: Ole Faergeman, L. G. Jensen, Margrethe Kjeldsen, Finn Heath, Steen Kølvraa, Lars Bolund, Hans Eiberg, Niels Gregersen, Henrik Jensen
Publikováno v: Jensen, L G, Jensen, H K, Heath, F, Eiberg, H, Kjeldsen, M, Færgeman, O, Kølvraa, S, Bolund, L & Gregersen, N 1996, ' Allele-specific measurement of low-density lipoprotein receptor transcript levels ', Human Mutation, vol. 8, no. 2, pp. 126-133 . https://doi.org/10.1002/(SICI)1098-1004(1996)8:2<126::AID-HUMU4>3.0.CO;2-9
We have developed an assay for allele-specific determination of low- density lipoprotein receptor (LDLR) mRNAs. Transcript levels are measured by reverse transcription (RT), PCR, and electrophoresis on an automatic DNA sequencer using fluorescence-la
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed7d59256bdd1a6f47247c8d2282513a
https://doi.org/10.1002/(sici)1098-1004(1996)8:2<126::aid-humu4>3.0.co
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9
Vasodilator interactions in skeletal muscle blood flow regulation
Autor: Y, Hellsten, M, Nyberg, L G, Jensen, S P, Mortensen
Publikováno v: The Journal of physiology. 590(24)
During exercise, oxygen delivery to skeletal muscle is elevated to meet the increased oxygen demand. The increase in blood flow to skeletal muscle is achieved by vasodilators formed locally in the muscle tissue, either on the intraluminal or on the e
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https://pubmed.ncbi.nlm.nih.gov/22988140
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10
Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia
Autor: Hans Meinertz, Lars Bolund, Niels Gregersen, Brage S. Andresen, Ole Faergeman, Annebirthe Bo Hansen, Viggo Nielsen, L. G. Jensen, Thomas G. Jensen, Henrik Jensen, Margrethe Kjeldsen, Peter Steen Hansen
Publikováno v: Jensen, H K, Jensen, T G, Jensen, L G, Hansen, P S, Kjeldsen, M, Andresen, B S, Nielsen, V, Meinertz, H, Hansen, A B & Bolund, L 1994, ' Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia ' Human Mutation, vol. 4, no. 2, pp. 102-13 . https://doi.org/10.1002/humu.1380040203
Mutations in the gene for the low-density lipoprotein receptor (LDL receptor) cause the autosomal dominant inherited disease familial hypercholesterolemia (FH). In 15 Danish patients with heterozygous FH we have screened exon 4 of the LDL receptor ge
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16c2789751c48a65cc788c9b09dd5c33
https://doi.org/10.1002/humu.1380040203
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