Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies.
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INS-gene mutations: from genetics and beta cell biology to clinical diseaseNeonatal diabetes: an expanding list of genes allows for improved diagnosis and treatmentFurther evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).Transgenic zebrafish model of the C43G human insulin gene mutationInsulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.Hyperglucagonemia in an animal model of insulin- deficient diabetes: what therapy can improve it?Neonatal diabetes mellitus: a model for personalized medicineProinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth.Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.Permanent diabetes during the first year of life: multiple gene screening in 54 patientsCharacterization of early EDEM1 protein maturation events and their functional implications.Impaired cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetesIntrafamilial Variability of Early-Onset Diabetes due to an INS Mutation.Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes.Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment.Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.Molecular diagnosis of maturity onset diabetes of the young in India.The role of the unfolded protein response in diabetes mellitus.Protein folding in the endoplasmic reticulumInsulin gene mutations and diabetesMutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secretedBilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutationIdentification of INS and KCNJ11 gene mutations in type 1B diabetes in Japanese children with onset of diabetes before 5 years of age.Whole-exome sequencing identifies a novel INS mutation causative of maturity-onset diabetes of the young 10.Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children.The diagnosis and management of monogenic diabetes in children and adolescentsPermanent neonatal diabetes due to a novel L105P (c.314T>C; p.Leu105Pro) heterozygous mutation in insulin gene
P2860
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P2860
Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Insulin gene mutations as caus ...... ype 1 diabetes autoantibodies.
@en
type
label
Insulin gene mutations as caus ...... ype 1 diabetes autoantibodies.
@en
prefLabel
Insulin gene mutations as caus ...... ype 1 diabetes autoantibodies.
@en
P2093
P2860
P921
P356
P1433
P1476
Insulin gene mutations as caus ...... ype 1 diabetes autoantibodies.
@en
P2093
Carlo Colombo
Dario Iafusco
Franco Meschi
Giuseppe Chiumello
Matteo Viscardi
Ornella Massa
Riccardo Bonfanti
Valentina Nocerino
P2860
P304
P356
10.2337/DC08-0783
P407
P577
2008-10-07T00:00:00Z