Search Results - "AL, Jorgensen"

Serum and blister‐fluid elevation and decreased epidermal content of high‐mobility group box 1 protein in drug‐induced Stevens–Johnson syndrome/toxic epidermal necrolysis by Carr, D.F., Wang, C.‐W., Bellón, T., Ressel, L., Nwikue, G., Shrivastava, V., Bergfeld, W., Jorgensen, A.L., Chung, W.‐H., Pirmohamed, M.

“…Summary Background High‐mobility group box 1 (HMGB1) is a damage‐associated molecular‐pattern protein. Stevens–Johnson syndrome (SJS)/toxic epidermal…”
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Risk stratification after paracetamol overdose using mechanistic biomarkers: results from two prospective cohort studies by Dear, James W, Clarke, Joanna I, Francis, Ben, Allen, Lowri, Wraight, Jonathan, Shen, Jasmine, Dargan, Paul I, Wood, David, Cooper, Jamie, Thomas, Simon H L, Jorgensen, Andrea L, Pirmohamed, Munir, Park, B Kevin, Antoine, Daniel J

“…Paracetamol overdose is common but patient stratification is suboptimal. We investigated the usefulness of new biomarkers that have either enhanced liver…”
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Integration of Genetic, Clinical, and INR Data to Refine Warfarin Dosing by Lenzini, P, Wadelius, M, Kimmel, S, Anderson, J L, Jorgensen, A L, Pirmohamed, M, Caldwell, M D, Limdi, N, Burmester, J K, Dowd, M B, Angchaisuksiri, P, Bass, A R, Chen, J, Eriksson, N, Rane, A, Lindh, J D, Carlquist, J F, Horne, B D, Grice, G, Milligan, P E, Eby, C, Shin, J, Kim, H, Kurnik, D, Stein, C M, McMillin, G, Pendleton, R C, Berg, R L, Deloukas, P, Gage, B F

“…Well‐characterized genes that affect warfarin metabolism (cytochrome P450 (CYP) 2C9) and sensitivity (vitamin K epoxide reductase complex 1 (VKORC1)) explain…”
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HMGB1 expression in SJS/TEN sera and skin by Carr, D.F., Wang, C.‐W., Bellón, T., Ressel, L., Nwikue, G., Shrivastava, V., Bergfeld, W., Jorgensen, A.L., Chung, W.‐H., Pirmohamed, M.

“…Summary Stevens Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare, severe, skin blistering conditions in which areas of skin die and detach…”
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The population pharmacokinetics of R‐ and S‐warfarin: effect of genetic and clinical factors by Lane, Steven, Al‐Zubiedi, Sameh, Hatch, Ellen, Matthews, Ivan, Jorgensen, Andrea L., Deloukas, Panos, Daly, Ann K., Park, B. Kevin, Aarons, Leon, Ogungbenro, Kayode, Kamali, Farhad, Hughes, Dyfrig, Pirmohamed, Munir

“…WHAT IS ALREADY KNOWN ABOUT THIS SUBJECT • A number of pharmacokinetic studies have focused on S‐warfarin. These have shown that demographic factors, such as…”
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Structural and functional characterization of the zebrafish gene for glial fibrillary acidic protein, GFAP by Nielsen, Anders Lade, Jørgensen, Arne Lund

“…Glial fibrillary acidic protein, GFAP, is an astrocyte-specific member of the family of intermediate filament proteins which are involved in formation of the…”
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Multi-ancestral meta-analysis yields novel genetic loci for asthma exacerbations by Luis, EH, Ortega, VE, Ampleford, EJ, Sio, YY, Granell, R, De Roos, E, Terzikhan, N, Vergara, EE, Hernandez-Pacheco, N, Perez-Garcia, J, Martin-Gonzalez, E, Lorenzo-Diaz, F, Hashimoto, S, Brinkman, P, Jorgensen, AL, Yan, Q, Forno, E, Vijverberg, SJ, Lethem, R, Espuela-Ortiz, A, Gorenjak, M, Eng, C, Gonzalez-Perez, R, Hernandez-Perez, JM, Poza-Guedes, P, Sardon, O, Corcuera, P, Hawkins, GA, Marsico, A, Bahmer, T, Rabe, KF, Hansen, G, Kopp, MV, Rios, R, Cruz, MJ, Gonzalez-Barcala, F, Olaguibel, JM, Plaza, V, Quirce, S, Canino, G, Cloutier, M, Del Pozo, V, Rodriguez-Santana, JR, Korta-Murua, J, Villar, J, Potocnik, U, Figueiredo, C, Kabesch, M, Mukhopadhyay, S, Pirmohamed, M, Hawcutt, DB, Melen, E, Palmer, CN, Turner, S, Maitland-Van der Zee, AH, Von Mutius, E, Celeclon, JC, Brusselle, G, Chew, FT, Bleecker, E, Meyers, D, Burchard, EG, Pino-Yanes, M

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药物引发的史蒂文斯‐约翰逊综合征/中毒性表皮坏死松解症患者血清及水泡液中高迁移率族蛋白 B 的蛋白含量高迁移率族 by Carr, D.F., Wang, C.‐W., Bellón, T., Ressel, L., Nwikue, G., Shrivastava, V., Bergfeld, W., Jorgensen, A.L., Chung, W.‐H., Pirmohamed, M.

“…Summary 史蒂文斯‐约翰逊综合征 (SJS) 和中毒性表皮坏死松解症 (TEN) 是一种罕见的、严重的、皮肤起泡的疾病,其中皮肤的某些部位会死亡和脱落。它们实际上代表着严重程度不同的同一种疾病:SJS 患者的体表脱皮面积低于 10%,而 TEN 患者超过 30%。 在英国,每年约有 500…”
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PO-027 Potential use of BH3 mimetics in the treatment of head and neck cancer by Carter, RJ, Butterworth, M, Risk, JM, Jorgensen, AL, Sacco, JJ, Schache, AG, Shaw, RJ, Jones, TM, Cohen, GM, Varadarajan, S

“…IntroductionHead and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide. The limited success and significant toxicities associated…”
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A New Splice Variant of Glial Fibrillary Acidic Protein, GFAPε, Interacts with the Presenilin Proteins by Nielsen, Anders Lade, Holm, Ida E., Johansen, Marianne, Bonven, Bjarne, Jørgensen, Poul, Jørgensen, Arne Lund

“…We describe a new human isoform, GFAPε, of the intermediary filament protein GFAP (glial fibrillary acidic protein). GFAPε mRNA is the result of alternative…”
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Variant Phenotypes of Incomplete Achromatopsia in Two Cousins with GNAT2 Gene Mutations by Rosenberg, Thomas, Baumann, Britta, Kohl, Susanne, Zrenner, Eberhart, Jorgensen, Arne Lund, Wissinger, Bernd

“…The present study was designed to elucidate the molecular genetic basis of a congenital stationary cone dysfunction characterized by congenital nystagmus,…”
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Systematic review: Cervical stitch (cerclage) for preventing pregnancy loss: individual patient data meta‐analysis by Jorgensen, AL, Alfirevic, Z, Tudur Smith, C, Williamson, PR

“…Background  Several observational studies have claimed high success rates for cerclage in women with cervical insufficiency. A recent Cochrane review found no…”
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Self-assembly of the Cytoskeletal Glial Fibrillary Acidic Protein Is Inhibited by an Isoform-specific C Terminus by Nielsen, Anders Lade, Jørgensen, Arne Lund

“…The predominant isoform of glial fibrillary acidic protein (GFAP), GFAPα, is the characteristic building block of the cytoskeletal intermediate filaments in…”
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Author response to: Cervical stitch (cerclage) for preventing pregnancy loss: individual patient data meta‐analysis by Jorgensen, AL, Alfirevic, Z, Tudur Smith, C, Williamson, PR

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Genetic polymorphism and sequence evolution of an alternatively spliced exon of the glial fibrillary acidic protein gene, GFAP by Singh, Ripudaman, Nielsen, Anders L, Johansen, Marianne G, Jørgensen, Arne L

“…Isoform GFAPϵ of the human cytoskeletal protein GFAP carries, as the result of alternative splicing of exon 7a of GFAP, a novel 42-amino-acid-long C-terminal…”
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Equal proportion of adult male and female homozygous for the 677C → T mutation in the methylenetetrahydrofolate reductase polymorphism by Anderson, Cheryl A.M., Jorgensen, Arne Lund, Deeb, Samir, McLerran, Dale, Beresford, Shirley A.A., Motulsky, Arno G.

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A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimerʼs disease by Romero, Ignacio, Jørgensen, Poul, Bolwig, Gert, Fraser, Paul E, Rogaeva, Ekaterina, Mann, David, Havsager, Anne-Mette, Jørgensen, Arne Lund

“…MUTATION in the presenilin-1 (PS-1) gene at chromosome 14q24.3 is the most common cause of autosomal dominant early-onset Alzheimerʼs disease. Here, we report…”
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Sequence Divergence of the Red and Green Visual Pigments in Great Apes and Humans by Deeb, Samir S., Jorgensen, A. Lund, Battisti, Laurie, Iwasaki, Lori, Motulsky, Arno G.

“…We have determined the coding sequences of red and green visual pigment genes of the chimpanzee, gorilla, and orangutan. The deduced amino acid sequences of…”
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Mutations associated with a childhood leukodystrophy, Alexander disease, cause deficiency in dimerization of the cytoskeletal protein GFAP by Nielsen, Anders L, Jørgensen, Poul, Jørgensen, Arne L

“…Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene were recently found to be associated with Alexander disease. We examined the…”
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Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency by JØRGENSEN, A. L, PHILIP, J, RASKIND, W. H, MATSUSHITA, M, CHRISTENSEN, B, DREYER, V, MOTULSKY, A. G

“…Two female identical twins who were clinically normal were obligatory heterozygotes for X-linked deuteranomaly associated with a green-red fusion gene derived…”
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