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Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.

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Title: Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.
Authors: Saint-Martin C; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Cauchois-Le Mière M; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Rex E; Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR, USA., Soukarieh O; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Arnoux JB; Department of Inherited Metabolic Disease, Necker-Enfants Malades University Hospital, AP-HP, Paris, France., Buratti J; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Bouvet D; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Frébourg T; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Gaildrat P; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Shyng SL; Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR, USA., Bellanné-Chantelot C; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Martins A; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Source: Human mutation [Hum Mutat] 2021 Apr; Vol. 42 (4), pp. 408-420. Date of Electronic Publication: 2021 Jan 28.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.
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  Data: <searchLink fieldCode="AU" term="%22Saint-Martin+C%22">Saint-Martin C</searchLink>; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cauchois-Le+Mière+M%22">Cauchois-Le Mière M</searchLink>; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Rex+E%22">Rex E</searchLink>; Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Soukarieh+O%22">Soukarieh O</searchLink>; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Arnoux+JB%22">Arnoux JB</searchLink>; Department of Inherited Metabolic Disease, Necker-Enfants Malades University Hospital, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Buratti+J%22">Buratti J</searchLink>; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bouvet+D%22">Bouvet D</searchLink>; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Frébourg+T%22">Frébourg T</searchLink>; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Gaildrat+P%22">Gaildrat P</searchLink>; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Shyng+SL%22">Shyng SL</searchLink>; Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Bellanné-Chantelot+C%22">Bellanné-Chantelot C</searchLink>; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Martins+A%22">Martins A</searchLink>; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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