Update on mutations in glucokinase (GCK), which cause maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
…, NL Beer, C Bellanné‐Chantelot… - Human …, 2009 - Wiley Online Library
Glucokinase is a key regulatory enzyme in the pancreatic beta‐cell. It plays a crucial role in
the regulation of insulin secretion and has been termed the glucose sensor in pancreatic …
the regulation of insulin secretion and has been termed the glucose sensor in pancreatic …
[HTML][HTML] Congenital hyperinsulinism: current trends in diagnosis and therapy
…, JJ Robert, Y Aigrain, C Bellanné-Chantelot… - Orphanet journal of rare …, 2011 - Springer
Congenital hyperinsulinism (HI) is an inappropriate insulin secretion by the pancreatic β-
cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live …
cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live …
Update of mutations in the genes encoding the pancreatic beta‐cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes …
SE Flanagan, S Clauin, C Bellanné‐Chantelot… - Human …, 2009 - Wiley Online Library
The beta‐cell ATP‐sensitive potassium (KATP) channel is a key component of stimulus‐
secretion coupling in the pancreatic beta‐cell. The channel couples metabolism to …
secretion coupling in the pancreatic beta‐cell. The channel couples metabolism to …
[HTML][HTML] Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
S Ellard, C Bellanné-Chantelot, AT Hattersley… - Diabetologia, 2008 - Springer
Aims/hypothesis Mutations in the GCK and HNF1A genes are the most common cause of the
monogenic forms of diabetes known as 'maturity-onset diabetes of the young'. GCK encodes …
monogenic forms of diabetes known as 'maturity-onset diabetes of the young'. GCK encodes …
Clinical spectrum associated with hepatocyte nuclear factor-1β mutations
C Bellanné-Chantelot, D Chauveau… - Annals of internal …, 2004 - acpjournals.org
Background: Maturity-onset diabetes of the young type 5 (MODY5), a type of dominantly
inherited diabetes mellitus and nephropathy, has been associated with mutations of the …
inherited diabetes mellitus and nephropathy, has been associated with mutations of the …
[HTML][HTML] A Syndrome with Congenital Neutropenia and Mutations in G6PC3
…, I Pellier, C Bellanné-Chantelot… - … England Journal of …, 2009 - Mass Medical Soc
Background The main features of severe congenital neutropenia are the onset of severe
bacterial infections early in life, a paucity of mature neutrophils, and an increased risk of …
bacterial infections early in life, a paucity of mature neutrophils, and an increased risk of …
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome
…, J Donadieu, C Bellanné-Chantelot… - Genes & …, 2011 - genesdev.cshlp.org
Removal of the assembly factor eukaryotic initiation factor 6 (eIF6) is critical for late
cytoplasmic maturation of 60S ribosomal subunits. In mammalian cells, the current model …
cytoplasmic maturation of 60S ribosomal subunits. In mammalian cells, the current model …
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic …
…, O Hermine, B Cassinat, C Bellanné-Chantelot… - …, 2005 - haematologica.org
BACKGROUND AND OBJECTIVES: The two main complications of severe chronic
neutropenia are fatal sepsis and myelodysplasia/acute leukemia (MDS/AL). Granulocyte …
neutropenia are fatal sepsis and myelodysplasia/acute leukemia (MDS/AL). Granulocyte …
Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1β (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5
C Bellanné-Chantelot, S Clauin, D Chauveau… - Diabetes, 2005 - Am Diabetes Assoc
Maturity-onset diabetes of the young (MODY) 5 is caused by mutations in the TCF2 gene
encoding the transcription factor hepatocyte nuclear factor-1β. However, in 60% of the …
encoding the transcription factor hepatocyte nuclear factor-1β. However, in 60% of the …
Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis
…, B Beaupain, C Bellanné-Chantelot… - Journal of Experimental …, 2012 - rupress.org
Natural killer (NK) cells are bone marrow (BM)–derived granular lymphocytes involved in
immune defense against microbial infections and tumors. In an N-ethyl N-nitrosourea (ENU) …
immune defense against microbial infections and tumors. In an N-ethyl N-nitrosourea (ENU) …