Search Results - "Nielsen, JE"

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease by Lindquist, SG, Duno, M, Batbayli, M, Puschmann, A, Braendgaard, H, Mardosiene, S, Svenstrup, K, Pinborg, LH, Vestergaard, K, Hjermind, LE, Stokholm, J, Andersen, BB, Johannsen, P, Nielsen, JE

“…Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21‐linked frontotemporal…”
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Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9) by Eiberg, H, Hansen, L, Korbo, L, Nielsen, IM, Svenstrup, K, Bech, S, Pinborg, LH, Friberg, L, Hjermind, LE, Olsen, OR, Nielsen, JE

“…Eiberg H, Hansen L, Korbo L, Nielsen IM, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE. Novel mutation in ATP13A2 widens the…”
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LigpKa – a database of pKa values for small molecule ligands designed for the use in structure-based pKa calculations by Czodrowski, P, Søndergaard, CR, Dohm, S, Klebe, G, Nielsen, JE

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Predicting Changes in the Stability of Proteins and Protein Complexes: A Study of More Than 1000 Mutations by Guerois, Raphael, Nielsen, Jens Erik, Serrano, Luis

“…We have developed a computer algorithm, FOLDEF (for FOLD-X energy function), to provide a fast and quantitative estimation of the importance of the…”
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PDB2PQR: an automated pipeline for the setup of Poisson–Boltzmann electrostatics calculations by Dolinsky, Todd J., Nielsen, Jens E., McCammon, J. Andrew, Baker, Nathan A.

“…Continuum solvation models, such as Poisson–Boltzmann and Generalized Born methods, have become increasingly popular tools for investigating the influence of…”
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Ex vivo culture of human fetal gonads: manipulation of meiosis signalling by retinoic acid treatment disrupts testis development by Jørgensen, A., Nielsen, J.E., Perlman, S., Lundvall, L., Mitchell, R.T., Juul, A., Rajpert-De Meyts, E.

“…STUDY QUESTION What are the effects of experimentally manipulating meiosis signalling by addition of retinoic acid (RA) in cultured human fetal gonads? SUMMARY…”
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Optimizing the hydrogen-bond network in Poisson-Boltzmann equation-based pK(a) calculations by Nielsen, J E, Vriend, G

“…pK(a) calculation methods that are based on finite difference solutions to the Poisson-Boltzmann equation (FDPB) require that energy calculations be performed…”
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Transcatheter intervention of coarctation of the aorta (CoA): a multinational population-based registry – effect on hypertension by Eriksson, P, Pihkala, J, Jensen, A.S, Dohlen, G, Liuba, P, Wahlander, H, Sjoberg, G, Hlebowicz, J, Furenas, E, Dellborg, M, Settergren, M, Kudsk-Nielsen, J.E, Sondergaard, L, Sinisalo, J, Larsen, S.H

“…Abstract Background CoA is associated with hypertension caused by reduced wind kessel function in the aortic arch, general hypoplasia of the arch and/or…”
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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia by Sørensen, Sven Asger, Gade, Anders, Lloyd, Sarah L, Spillantini, Maria Grazia, Hodges, John R, Johannsen, Peter, Parkinson, Nicholas J, Hummerich, Holger, Gydesen, Susanne, Chakrabarti, Lisa, Brun, Arne, Brown, Jeremy M, Brandner, Sebastian, Collinge, John, Skibinski, Gaia, Rossor, Martin N, Fisher, Elizabeth MC, Nielsen, Jørgen E, Thusgaard, Tove

“…We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a…”
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The response of tropical tropospheric ozone to ENSO by Oman, L. D., Ziemke, J. R., Douglass, A. R., Waugh, D. W., Lang, C., Rodriguez, J. M., Nielsen, J. E.

“…We have successfully reproduced the Ozone ENSO Index (OEI) in the Goddard Earth Observing System (GEOS) chemistry‐climate model (CCM) forced by observed sea…”
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A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation by Dalgaard, Marlene D, Weinhold, Nils, Edsgärd, Daniel, Silver, Jeremy D, Pers, Tune H, Nielsen, John E, Jørgensen, Niels, Juul, Anders, Gerds, Thomas A, Giwercman, Aleksander, Giwercman, Yvonne L, Cohn-Cedermark, Gabriella, Virtanen, Helena E, Toppari, Jorma, Daugaard, Gedske, Jensen, Thomas S, Brunak, Søren, Rajpert-De Meyts, Ewa, Skakkebæk, Niels E, Leffers, Henrik, Gupta, Ramneek

“…Testicular dysgenesis syndrome (TDS) is a common disease that links testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male…”
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What would have happened to the ozone layer if chlorofluorocarbons (CFCs) had not been regulated? by Newman, P. A., Oman, L. D., Douglass, A. R., Fleming, E. L., Frith, S. M., Hurwitz, M. M., Kawa, S. R., Jackman, C. H., Krotkov, N. A., Nash, E. R., Nielsen, J. E., Pawson, S., Stolarski, R. S., Velders, G. J. M.

“…Ozone depletion by chlorofluorocarbons (CFCs) was first proposed by Molina and Rowland in their 1974 Nature paper. Since that time, the scientific connection…”
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CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A by Roos, P., Svenstrup, K., Danielsen, E. R., Thomsen, C., Nielsen, J. E.

“…The SPG5A subtype of Hereditary Spastic Paraplegia (HSP) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CYP7B1 gene, which…”
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Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia by Bruno, M K, Lee, H-Y, Auburger, G W J, Friedman, A, Nielsen, J E, Lang, A E, Bertini, E, Van Bogaert, P, Averyanov, Y, Hallett, M, Gwinn-Hardy, K, Sorenson, B, Pandolfo, M, Kwiecinski, H, Servidei, S, Fu, Y-H, Ptácek, L

“…Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder characterized by episodic hyperkinetic movement attacks. We have recently identified mutations…”
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Calculating pKa values in enzyme active sites by Nielsen, Jens Erik, McCammon, J. Andrew

“…The ionization properties of the active‐site residues in enzymes are of considerable interest in the study of the catalytic mechanisms of enzymes. Knowledge of…”
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Vitamin D Metabolism and Effects on Pluripotency Genes and Cell Differentiation in Testicular Germ Cell Tumors In Vitro and In Vivo by Blomberg Jensen, Martin, Jørgensen, Anne, Nielsen, John Erik, Steinmeyer, Andreas, Leffers, Henrik, Juul, Anders, Rajpert-De Meyts, Ewa

“…Abstract Testicular germ cell tumors (TGCTs) are classified as either seminomas or nonseminomas. Both tumors originate from carcinoma in situ (CIS) cells,…”
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Embryonic stem cell-like features of testicular carcinoma in situ revealed by genome-wide gene expression profiling by ALMSTRUP, Kristian, HOEI-HANSEN, Christina E, WIRKNER, Ute, BLAKE, Jonathon, SCHWAGER, Christian, ANSORGE, Wilhelm, NIELSEN, John E, SKAKKEBAEK, Niels E, RAJPERT-DE MEYTS, Ewa, LEFFERS, Henrik

“…Carcinoma in situ (CIS) is the common precursor of histologically heterogeneous testicular germ cell tumors (TGCTs), which in recent decades have markedly…”
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Effect of zonal asymmetries in stratospheric ozone on simulated Southern Hemisphere climate trends by Waugh, D. W., Oman, L., Newman, P. A., Stolarski, R. S., Pawson, S., Nielsen, J. E., Perlwitz, J.

“…Stratospheric ozone is represented in most climate models by prescribing zonal‐mean fields. We examine the impact of this on Southern Hemisphere (SH) trends…”
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Stem cell pluripotency factor NANOG is expressed in human fetal gonocytes, testicular carcinoma in situ and germ cell tumours by Hoei-Hansen, C E, Almstrup, K, Nielsen, J E, Brask Sonne, S, Graem, N, Skakkebaek, N E, Leffers, H, Rajpert-De Meyts, E

“…Aims : NANOG is a key regulator of embryonic stem cell (ESC) self‐renewal and pluripotency. Our recent genome‐wide gene expression profiling study of the…”
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G05Cognitive Impairment And Psychiatric Symptoms In A Danish Cohort Of Huntington's Disease Gene-expansion Carriers by Vinther-Jensen, T, Larsen, Unmack, Tolstrup Nielsen, T, Budtz-Joergensen, E, Hjermind, LE, Noerremoelle, A, Vogel, A, Nielsen, JE

“…BackgroundInvoluntary movements, neuropsychiatric symptoms, and cognitive impairment are all part of the symptom triad in Huntington's disease (HD). Despite…”
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