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Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells.

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Title: Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells.
Authors: Buhl N; Pediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany., Pfister ED; Pediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany., Oliveira DV; Department of Cell Biology, Faculty of Science, Charles University, Viničná 7, Prague, 12800, Czech Republic.; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic., Turetti F; Department of Cell Biology, Faculty of Science, Charles University, Viničná 7, Prague, 12800, Czech Republic., Lurz E; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany., Baumann U; Pediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany., Di Donato N; Department of Human Genetics, Hannover Medical School, Carl- Neuberg-Str.1, 30625, Hannover, Germany., Illig T; Hannover Unified Bank, Hannover Medical School, Hannover, Germany., Skawran B; Department of Human Genetics, Hannover Medical School, Carl- Neuberg-Str.1, 30625, Hannover, Germany., Andersson ER; Department of Cell and Molecular Biology, Karolinska Institute, Stockholm, Sweden., Mašek J; Department of Cell Biology, Faculty of Science, Charles University, Viničná 7, Prague, 12800, Czech Republic. jan.masek@natur.cuni.cz.; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic. jan.masek@natur.cuni.cz., Stalke A; Department of Human Genetics, Hannover Medical School, Carl- Neuberg-Str.1, 30625, Hannover, Germany. Stalke.Amelie@mh-hannover.de.
Source: Human genetics [Hum Genet] 2026 Apr 18; Vol. 145 (1). Date of Electronic Publication: 2026 Apr 18.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells.
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  Data: <searchLink fieldCode="AU" term="%22Buhl+N%22">Buhl N</searchLink>; Pediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Pfister+ED%22">Pfister ED</searchLink>; Pediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Oliveira+DV%22">Oliveira DV</searchLink>; Department of Cell Biology, Faculty of Science, Charles University, Viničná 7, Prague, 12800, Czech Republic.; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Turetti+F%22">Turetti F</searchLink>; Department of Cell Biology, Faculty of Science, Charles University, Viničná 7, Prague, 12800, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Lurz+E%22">Lurz E</searchLink>; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Baumann+U%22">Baumann U</searchLink>; Pediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Di+Donato+N%22">Di Donato N</searchLink>; Department of Human Genetics, Hannover Medical School, Carl- Neuberg-Str.1, 30625, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Illig+T%22">Illig T</searchLink>; Hannover Unified Bank, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Skawran+B%22">Skawran B</searchLink>; Department of Human Genetics, Hannover Medical School, Carl- Neuberg-Str.1, 30625, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Andersson+ER%22">Andersson ER</searchLink>; Department of Cell and Molecular Biology, Karolinska Institute, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Mašek+J%22">Mašek J</searchLink>; Department of Cell Biology, Faculty of Science, Charles University, Viničná 7, Prague, 12800, Czech Republic. jan.masek@natur.cuni.cz.; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic. jan.masek@natur.cuni.cz.<br /><searchLink fieldCode="AU" term="%22Stalke+A%22">Stalke A</searchLink>; Department of Human Genetics, Hannover Medical School, Carl- Neuberg-Str.1, 30625, Hannover, Germany. Stalke.Amelie@mh-hannover.de.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2026 Apr 18; Vol. 145 (1). <i>Date of Electronic Publication: </i>2026 Apr 18.
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