Výsledky vyhledávání - "Josefin Johansson"

Akademický článek

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing

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

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Akademický článek

Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

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

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Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

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

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Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

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)

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

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TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

Autor: Sanna Gudmundsson, Maria Wilbe, Beata Filipek-Górniok, Anna-Maja Molin, Sara Ekvall, Josefin Johansson, Amin Allalou, Hans Gylje, Vera M. Kalscheuer, Johan Ledin, Göran Annerén, Marie-Louise Bondeson

Publikováno v: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)

The TATA-box binding protein associated factor 1 (TAF1) protein is a key unit of the transcription factor II D complex that serves a vital function during transcription initiation. Variants of TAF1 have been associated with neurodevelopmental disorde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6dae0f09b303cbc3297481a5f70c8e08
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-379358

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A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases

Autor: Eva-Lena Stattin, Marie-Louise Bondeson, Sanna Gudmundsson, Maria Wilbe, Adam Ameur, Josefin Johansson, Staffan Lundberg

Publikováno v: American journal of medical genetics. Part A. 176(6)

Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder characterized by multiple joint contractures often in association with other congenital abnormalities. Pretibial linear vertical creases are a rare finding associated with arthrogry

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8fac779d08170c6d4ebf764e235f67a
https://pubmed.ncbi.nlm.nih.gov/29663639

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A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

Autor: Maria, Wilbe, Sanna, Gudmundsson, Josefin, Johansson, Adam, Ameur, Eva-Lena, Stattin, Göran, Annerén, Helena, Malmgren, Carina, Frykholm, Marie-Louise, Bondeson

Publikováno v: Prenatal Diagnosis

Objective De novo mutations contribute significantly to severe early‐onset genetic disorders. Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ line mosaicism, depending on in which gonadal generation the m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::36fa40b187d1978fccf5fea4cf69bf23
https://pubmed.ncbi.nlm.nih.gov/28921562

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Frequency Dependence of Host Plant Choice within and Between Patches: A Large Cage Experiment

Autor: Niklas Janz, Josefin Johansson, Anders Bergström

Publikováno v: Evolutionary Ecology. 19:289-302

Oviposition preference is considered to be one of the most important factors behind patterns of host use among herbivorous insects. However, preference is defined as host plant choice under equal host abundance and availability, and it is likely that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::da77c5d0c0a6585ba01c50570a057d1d
https://doi.org/10.1007/s10682-005-6078-3

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