GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes.
Genomics and Metabolic Diseases, CNRS UMR8199 - Lille Institute of Biology, 1, Rue du Prof Calmette, B.P. 245, 59019, Lille Cedex, France.|Lille Nord de France University, Lille, France.
A
A
Bonnefond
Genomics and Metabolic Diseases, CNRS UMR8199 - Lille Institute of Biology, 1, Rue du Prof Calmette, B.P. 245, 59019, Lille Cedex, France.|Lille Nord de France University, Lille, France.
O
O
Sand
Department of Paediatrics, Hospital of Pau, Pau, France.
B
B
Guerin
Genomics and Metabolic Diseases, CNRS UMR8199 - Lille Institute of Biology, 1, Rue du Prof Calmette, B.P. 245, 59019, Lille Cedex, France.|Lille Nord de France University, Lille, France.
E
E
Durand
Genomics and Metabolic Diseases, CNRS UMR8199 - Lille Institute of Biology, 1, Rue du Prof Calmette, B.P. 245, 59019, Lille Cedex, France.|Lille Nord de France University, Lille, France.
F
F
De Graeve
Genomics and Metabolic Diseases, CNRS UMR8199 - Lille Institute of Biology, 1, Rue du Prof Calmette, B.P. 245, 59019, Lille Cedex, France.|Lille Nord de France University, Lille, France.
M
M
Huyvaert
Inserm-U845, Research Center Growth and Signalling, Paris Descartes University, Sorbonne Paris Cité, Necker Hospital, Paris, France.
L
L
Rachdi
Lille Nord de France University, Lille, France.|Inserm-U859, Lille, France.
J
J
Kerr-Conte
Lille Nord de France University, Lille, France.|Inserm-U859, Lille, France.|Department of Endocrine Surgery, Hospital of Lille, Lille, France.
F
F
Pattou
Genomics and Metabolic Diseases, CNRS UMR8199 - Lille Institute of Biology, 1, Rue du Prof Calmette, B.P. 245, 59019, Lille Cedex, France.|Lille Nord de France University, Lille, France.
M
M
Vaxillaire
Inserm-U845, Research Center Growth and Signalling, Paris Descartes University, Sorbonne Paris Cité, Necker Hospital, Paris, France.|Department of Paediatric Endocrinology, Necker Enfants Malades Hospital, Paris, France.
M
M
Polak
Inserm-U845, Research Center Growth and Signalling, Paris Descartes University, Sorbonne Paris Cité, Necker Hospital, Paris, France.
R
R
Scharfmann
Department of Paediatric Endocrinology, Necker Enfants Malades Hospital, Paris, France.
P
P
Czernichow
Genomics and Metabolic Diseases, CNRS UMR8199 - Lille Institute of Biology, 1, Rue du Prof Calmette, B.P. 245, 59019, Lille Cedex, France. p.froguel@imperial.ac.uk.|Lille Nord de France University, Lille, France. p.froguel@imperial.ac.uk.|Department of Genomics of Common Disease, School of Public Health, Imperial College London, London, UK. p.froguel@imperial.ac.uk.
P
P
Froguel
D000293:Adolescent; D019070:Cell Lineage; D003062:Codon / Q000235:genetics; D003920:Diabetes Mellitus / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D005260:Female; D050993:GATA6 Transcription Factor / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D050417:Insulin-Secreting Cells / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D010179:Pancreas / Q000002:abnormalities; D010182:Pancreatic Diseases / Q000151:congenital* / Q000235:genetics
D003062:Codon; D050993:GATA6 Transcription Factor; C494759:GATA6 protein, human