CD21 deficiency in 2 siblings and frequency of the associated mutation in the Danish population

Autor: Thure Mors Haunstrup, MD, Kaspar René Nielsen, MD, PhD, Sys Hasslund, MD, PhD, Line Lindgreen Eriksen, PhD, Jakob T. Bay, MD, PhD, John Baech, MD, PhD, Rudi Steffensen, PhD, Lisbeth Venø Kruse, MD, PhD

Publikováno v: Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 3, Pp 100274- (2024)

The clinical presentation of CD21 deficiency in 2 siblings caused by a novel mutation in the CD21 gene is reported, and the frequency of this mutation in the Danish population is explored. Successful treatment with IgG replacement in both patients wi

Externí odkaz: https://doaj.org/article/674f8b59263045dbb165459ac2bf503a

A genome-wide association study of social trust in 33,882 Danish blood donors

Autor: Celia Burgos Sequeros, Thomas Folkmann Hansen, David Westergaard, Ioannis Louloudis, Sebastian Kalamajski, Timo Röder, Palle Duun Rohde, Michael Schwinn, Line Harder Clemmensen, Maria Didriksen, Mette Nyegaard, Henrik Hjalgrim, Kaspar René Nielsen, Mie Topholm Bruun, Sisse Rye Ostrowski, Christian Erikstrup, Susan Mikkelsen, Erik Sørensen, DBDS Genomic Consortium, Ole Birger Vestager Pedersen, Søren Brunak, Karina Banasik, Giuseppe Nicola Giordano

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

Abstract Social trust is a heritable trait that has been linked with physical health and longevity. In this study, we performed genome-wide association studies of self-reported social trust in n = 33,882 Danish blood donors. We observed genome-wide a

Externí odkaz: https://doaj.org/article/d96e3c40e2494c5ca9ab43de70e7412e

Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

Autor: Asmundur Oddsson, Patrick Sulem, Gardar Sveinbjornsson, Gudny A. Arnadottir, Valgerdur Steinthorsdottir, Gisli H. Halldorsson, Bjarni A. Atlason, Gudjon R. Oskarsson, Hannes Helgason, Henriette Svarre Nielsen, David Westergaard, Juha M. Karjalainen, Hildigunnur Katrinardottir, Run Fridriksdottir, Brynjar O. Jensson, Vinicius Tragante, Egil Ferkingstad, Hakon Jonsson, Sigurjon A. Gudjonsson, Doruk Beyter, Kristjan H. S. Moore, Helga B. Thordardottir, Snaedis Kristmundsdottir, Olafur A. Stefansson, Solbritt Rantapää-Dahlqvist, Ida Elken Sonderby, Maria Didriksen, Pernilla Stridh, Jan Haavik, Laufey Tryggvadottir, Oleksandr Frei, G. Bragi Walters, Ingrid Kockum, Henrik Hjalgrim, Thorunn A. Olafsdottir, Geir Selbaek, Mette Nyegaard, Christian Erikstrup, Thorsten Brodersen, Saedis Saevarsdottir, Tomas Olsson, Kaspar Rene Nielsen, Asgeir Haraldsson, Mie Topholm Bruun, Thomas Folkmann Hansen, DBDS Genomic Consortium, Thora Steingrimsdottir, Rikke Louise Jacobsen, Rolv T. Lie, Srdjan Djurovic, Lars Alfredsson, Aitzkoa Lopez de Lapuente Portilla, Soren Brunak, Pall Melsted, Bjarni V. Halldorsson, Jona Saemundsdottir, Olafur Th. Magnusson, Leonid Padyukov, Karina Banasik, Thorunn Rafnar, Johan Askling, Lars Klareskog, Ole Birger Pedersen, Gisli Masson, Alexandra Havdahl, Bjorn Nilsson, Ole A. Andreassen, Mark Daly, Sisse Rye Ostrowski, Ingileif Jonsdottir, Hreinn Stefansson, Hilma Holm, Agnar Helgason, Unnur Thorsteinsdottir, Kari Stefansson, Daniel F. Gudbjartsson

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)

Abstract Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygos

Externí odkaz: https://doaj.org/article/a4fa595277a74ef2949c5d74d9c4032d

Development and validation of circulating protein signatures as diagnostic biomarkers for biliary tract cancer

Autor: Troels D. Christensen, Emil Maag, Ole Larsen, Claus L. Feltoft, Kaspar René Nielsen, Lars Henrik Jensen, Bonna Leerhøy, Carsten P. Hansen, Inna M. Chen, Dorte L. Nielsen, Julia S. Johansen

Publikováno v: JHEP Reports, Vol 5, Iss 3, Pp 100648- (2023)

Background & Aims: Biliary tract cancer (BTC) is associated with a dismal prognosis, partly because it is typically diagnosed late, highlighting the need for diagnostic biomarkers. The purpose of this project was to identify and validate multiprotein

Externí odkaz: https://doaj.org/article/51bf95d915174913b37fd8a23ae83013

Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Autor: Gyda Bjornsdottir, Lilja Stefansdottir, Gudmar Thorleifsson, Patrick Sulem, Kristjan Norland, Egil Ferkingstad, Asmundur Oddsson, Florian Zink, Sigrun H. Lund, Muhammad S. Nawaz, G. Bragi Walters, Astros Th. Skuladottir, Sigurjon A. Gudjonsson, Gudmundur Einarsson, Gisli H. Halldorsson, Valgerdur Bjarnadottir, Gardar Sveinbjornsson, Anna Helgadottir, Unnur Styrkarsdottir, Larus J. Gudmundsson, Ole B. Pedersen, Thomas Folkmann Hansen, Thomas Werge, Karina Banasik, Anders Troelsen, Soren T. Skou, Lise Wegner Thørner, Christian Erikstrup, Kaspar Rene Nielsen, Susan Mikkelsen, DBDS Genetic Consortium, GO Consortium, Ingileif Jonsdottir, Aron Bjornsson, Ingvar H. Olafsson, Elfar Ulfarsson, Josep Blondal, Arnor Vikingsson, Soren Brunak, Sisse R. Ostrowski, Henrik Ullum, Unnur Thorsteinsdottir, Hreinn Stefansson, Daniel F. Gudbjartsson, Thorgeir E. Thorgeirsson, Kari Stefansson

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-3 (2022)

Externí odkaz: https://doaj.org/article/c746585e95bd4d2bbf53aba042429f40