Carlo Colombo

Rome, Italy

Last Updated: 09/26/2026

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Found 11 publications

Hyperglucagonemia in an animal model of insulin- deficient diabetes: what therapy can improve it?

Hyperglucagonemia in an animal model of insulin- deficient diabetes: what therapy can improve it?

Journal: Clinical diabetes and endocrinology

Published: January 19, 2016

No sign of proliferative retinopathy in 15 patients with permanent neonatal diabetes with a median diabetes duration of 24 years.

No sign of proliferative retinopathy in 15 patients with permanent neonatal diabetes with a median diabetes duration of 24 years.

Journal: Diabetes care

Published: July 26, 2014

Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

Journal: Acta diabetologica

Published: March 15, 2013

Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression.

Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression.

Journal: PloS one

Published: December 28, 2012

Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation.

Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation.

Journal: Pediatric diabetes

Published: November 17, 2011

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

Journal: Molecular endocrinology (Baltimore, Md.)

Published: November 04, 2009

Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies.

Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies.

Journal: Diabetes care

Published: October 09, 2008

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.

Journal: The Journal of clinical endocrinology and metabolism

Published: December 13, 2007

Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

Journal: The Journal of clinical investigation

Published: August 30, 2007

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

Journal: Diabetes

Published: January 30, 2007

Genetic background (C57BL/6J versus FVB/N) strongly influences the severity of diabetes and insulin resistance in ob/ob mice.

Genetic background (C57BL/6J versus FVB/N) strongly influences the severity of diabetes and insulin resistance in ob/ob mice.

Journal: Endocrinology

Published: April 03, 2004

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Last Updated: 09/26/2026