Implementation of SCID Screening in Denmark

Autor: Marie Bækvad-Hansen, Dea Adamsen, Jonas Bybjerg-Grauholm, David Michael Hougaard

Publikováno v: International Journal of Neonatal Screening, Vol 7, Iss 3, p 54 (2021)

Screening for SCID was added to the Danish Neonatal Screening Program in February 2020. The screening uses a RealtimePCR kit and we here present the results and experiences with the validation of the kit and the first 10 months of screening.

Externí odkaz: https://doaj.org/article/30907fc598e8469a861268c799e20934

Genome-wide association study across pediatric central nervous system tumors implicates shared predisposition and points to 1q25.2 (PAPPA2) and 11p12 (LRRC4C) as novel candidate susceptibility loci

Autor: Jon Foss-Skiftesvik, Thomas Werge, Marie Bækvad-Hansen, David M. Hougaard, Dea Adamsen, Kjeld Schmiegelow, Merete Nordentoft, Michael Christiansen, Christian M. Hagen, René Mathiasen, Anders D. Børglum, Marianne Juhler, Jonas Bybjerg-Grauholm, Preben Bo Mortensen

Publikováno v: Foss-Skiftesvik, J, Hagen, C M, Mathiasen, R, Adamsen, D, Bækvad-Hansen, M, Børglum, A D, Nordentoft, M, Werge, T, Christiansen, M, Schmiegelow, K, Juhler, M, Mortensen, P B, Hougaard, D M & Bybjerg-Grauholm, J 2021, ' Genome-wide association study across pediatric central nervous system tumors implicates shared predisposition and points to 1q25.2 (PAPPA2) and 11p12 (LRRC4C) as novel candidate susceptibility loci ', Child's Nervous System, vol. 37, no. 3, pp. 819–830 . https://doi.org/10.1007/s00381-020-04946-3

INTRODUCTION: Central nervous system (CNS) tumors constitute the most common form of solid neoplasms in children, but knowledge on genetic predisposition is sparse. In particular, whether susceptibility attributable to common variants is shared acros

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e8bcf8f96572ae2a6aa4ec8611e2910
https://pure.au.dk/portal/da/publications/genomewide-association-study-across-pediatric-central-nervous-system-tumors-implicates-shared-predisposition-and-points-to-1q252-pappa2-and-11p12-lrrc4c-as-novel-candidate-susceptibility-loci(7d076fe3-94f4-402c-ae08-97cb7216c18c).html

Implementation of SCID Screening in Denmark

Autor: David M. Hougaard, Dea Adamsen, Jonas Bybjerg-Grauholm, Marie Bækvad-Hansen

Publikováno v: International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 7, Iss 54, p 54 (2021)
Volume 7
Issue 3

Screening for SCID was added to the Danish Neonatal Screening Program in February 2020. The screening uses a RealtimePCR kit and we here present the results and experiences with the validation of the kit and the first 10 months of screening.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08278fca6fecd05efa4264c5bd6ff03a
https://doi.org/10.3390/ijns7030054

Differences in 5-HT2A and mGlu2 Receptor Expression Levels and Repressive Epigenetic Modifications at the 5-HT2A Promoter Region in the Roman Low- (RLA-I) and High- (RHA-I) Avoidance Rat Strains

Autor: Cristóbal Río-Álamos, Dea Adamsen, Mario de la Fuente Revenga, Ignasi Oliveras, Toni Cañete, Albert Fernández-Teruel, Luna Fomsgaard, Gloria Blázquez, Justin M. Saunders, Adolf Tobeña, José L. Moreno, Tomasz Brudek, Javier González-Maeso, Anders B. Klein, Susana Aznar

The serotonin 2A (5-HT(2A)) and metabotropic glutamate 2 (mGlu2) receptors regulate each other and are associated with schizophrenia. The Roman high- (RHA-I) and the Roman low- (RLA-I) avoidance rat strains present well-differentiated behavioral prof

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::753b37377614ddb3dd76c14901fec374
https://europepmc.org/articles/PMC5587367/

BDNF val66met association with serotonin transporter binding in healthy humans

Autor: Patrick M. Fisher, Peter S. Jensen, Gitte M. Knudsen, Claus Svarer, W. Baare, Brice Ozenne, Dea Adamsen, Szabolcs Lehel

Publikováno v: Translational Psychiatry
Fisher, P M, Ozenne, B, Svarer, C, Adamsen, D, Lehel, S, Baaré, W F C, Jensen, P S & Knudsen, G M 2017, ' BDNF val66met association with serotonin transporter binding in healthy humans ', Translational Psychiatry, vol. 7, e1029, pp. 1-6 . https://doi.org/10.1038/tp.2016.295

The serotonin transporter (5-HTT) is a key feature of the serotonin system, which is involved in behavior, cognition and personality and implicated in neuropsychiatric illnesses including depression. The brain-derived neurotrophic factor (BDNF) val66

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3284885fad9d91c076dffd5471d7f700
https://doi.org/10.1038/tp.2016.295