Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Maria, Wilbe"'
Autor:
Josefin Johansson, Sarah Lidéus, Ida Höijer, Adam Ameur, Sanna Gudmundsson, Göran Annerén, Marie-Louise Bondeson, Maria Wilbe
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract X-chromosome inactivation (XCI) analyses often assist in diagnostics of X-linked traits, however accurate assessment remains challenging with current methods. We developed a novel strategy using amplification-free Cas9 enrichment and Oxford
Externí odkaz:
https://doaj.org/article/1a5f041a671a44b5858911c375c525c1
Autor:
Ida Höijer, Josefin Johansson, Sanna Gudmundsson, Chen-Shan Chin, Ignas Bunikis, Susana Häggqvist, Anastasia Emmanouilidou, Maria Wilbe, Marcel den Hoed, Marie-Louise Bondeson, Lars Feuk, Ulf Gyllensten, Adam Ameur
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-19 (2020)
Abstract Background One ongoing concern about CRISPR-Cas9 genome editing is that unspecific guide RNA (gRNA) binding may induce off-target mutations. However, accurate prediction of CRISPR-Cas9 off-target activity is challenging. Here, we present SMR
Externí odkaz:
https://doaj.org/article/faeeee05357040f48367202efe662786
Autor:
K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams
Publikováno v:
Hereditas, Vol 154, Iss 1, Pp 1-11 (2017)
Abstract Background Genealogy and molecular genetic studies of a Swedish river valley population resulted in a large pedigree, showing that the hereditary hemochromatosis (HH) HFE/p.C282Y mutation is inherited with other recessive disorders such as W
Externí odkaz:
https://doaj.org/article/015186d12da4480f8935b6aa4354d5c3
Autor:
Josefin Johansson, Carina Frykholm, Katharina Ericson, Kalliopi Kazamia, Amanda Lindberg, Nancy Mulaiese, Geir Falck, Per‐Erik Gustafsson, Sarah Lidéus, Sanna Gudmundsson, Adam Ameur, Marie‐Louise Bondeson, Maria Wilbe
Publikováno v:
American Journal of Medical Genetics Part A. 188:1676-1687
The Nexilin F-Actin Binding Protein (Nexilin) encoded by NEXN is a cardiac Z-disc protein important for cardiac function and development in humans, zebrafish, and mice. Heterozygote variants in the human NEXN gene have been reported to cause dilated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b287282664096c5386b182dcdd3f6caa
https://doi.org/10.1002/ajmg.a.62685
https://doi.org/10.1002/ajmg.a.62685
Autor:
Maria Wilbe, Sergey V Kozyrev, Fabiana H G Farias, Hanna D Bremer, Anna Hedlund, Gerli R Pielberg, Eija H Seppälä, Ulla Gustafson, Hannes Lohi, Örjan Carlborg, Göran Andersson, Helene Hansson-Hamlin, Kerstin Lindblad-Toh
Publikováno v:
PLoS Genetics, Vol 11, Iss 6, p e1005248 (2015)
The complexity of clinical manifestations commonly observed in autoimmune disorders poses a major challenge to genetic studies of such diseases. Systemic lupus erythematosus (SLE) affects humans as well as other mammals, and is characterized by the p
Externí odkaz:
https://doaj.org/article/3bf34628816943818286ed33a1eedab5
Autor:
Lisa S Andersson, Maria Wilbe, Agnese Viluma, Gus Cothran, Björn Ekesten, Susan Ewart, Gabriella Lindgren
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e75639 (2013)
Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome is a heritable eye disorder mainly affecting silver colored horses. Clinically, the disease manifests in two distinct classes depending on the horse genotype. Horses homozygous for the mutan
Externí odkaz:
https://doaj.org/article/93d697d5b6474b0e96b0e4330cbfe678
Autor:
Susana Häggqvist, Ulf Gyllensten, Marie-Louise Bondeson, Anastasia Emmanouilidou, Sanna Gudmundsson, Adam Ameur, Ida Höijer, Marcel den Hoed, Josefin Johansson, Ignas Bunikis, Chen-Shan Chin, Lars Feuk, Maria Wilbe
Publikováno v:
Genome Biology
Genome Biology, Vol 21, Iss 1, Pp 1-19 (2020)
Genome Biology, Vol 21, Iss 1, Pp 1-19 (2020)
BackgroundOne ongoing concern about CRISPR-Cas9 genome editing is that unspecific guide RNA (gRNA) binding may induce off-target mutations. However, accurate prediction of CRISPR-Cas9 off-target activity is challenging. Here, we present SMRT-OTS and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9c0f13f6fa0134bf6beceffa5672c5a
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-428344
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-428344
Autor:
Maria Wilbe, Martine Lund Ziener, Anita Aronsson, Charlotte Harlos, Katarina Sundberg, Elin Norberg, Lisa Andersson, Kerstin Lindblad-Toh, Ake Hedhammar, Göran Andersson, Frode Lingaas
Publikováno v:
PLoS ONE, Vol 5, Iss 8, p e12332 (2010)
Symmetrical lupoid onychodystrophy (SLO) is an immune-mediated disease in dogs affecting the claws with a suggested autoimmune aethiology. Sequence-based genotyping of the polymorphic exon 2 from DLA-DRB1, -DQA1, and -DQB1 class II loci were performe
Externí odkaz:
https://doaj.org/article/93130a68f87440a9b2ce72f647fa7428
Autor:
Maria Wilbe, Martine Lund Ziener, Anita Aronsson, Charlotte Harlos, Katarina Sundberg, Elin Norberg, Lisa Andersson, Kerstin Lindblad-Toh, Åke Hedhammar, Göran Andersson, Frode Lingaas
Publikováno v:
PLoS ONE, Vol 5, Iss 9 (2010)
Externí odkaz:
https://doaj.org/article/178c2ce572454db89867e3980d3387dc
Autor:
Katharina Ericson, Adam Ameur, Carina Frykholm, Maria Wilbe, Jan Wesström, Marie-Louise Bondeson, Sanna Gudmundsson, Fredrik Pontén
Publikováno v:
Clinical Genetics. 92:510-516
Mutations in genes involved in the cilium-centrosome complex are called ciliopathies. Meckel-Gruber syndrome (MKS) is a ciliopathic lethal autosomal recessive syndrome characterized by genetically and clinically heterogeneous manifestations, includin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cffe28916b72e7b05530d9ce5a1c0393
https://doi.org/10.1111/cge.13012
https://doi.org/10.1111/cge.13012