Insulin gene mutations as a cause of permanent neonatal diabetes.
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Carboxypeptidase E mediates palmitate-induced beta-cell ER stress and apoptosisInfantile onset diabetes mellitus in developing countries - IndiaDissecting diabetes/metabolic disease mechanisms using pluripotent stem cells and genome editing toolsNew insights from monogenic diabetes for "common" type 2 diabetesINS-gene mutations: from genetics and beta cell biology to clinical diseaseNeonatal diabetes: an expanding list of genes allows for improved diagnosis and treatmentSox17 regulates insulin secretion in the normal and pathologic mouse β cellThe A-chain of insulin contacts the insert domain of the insulin receptor. Photo-cross-linking and mutagenesis of a diabetes-related creviceCrystal Structure of a"Nonfoldable"Insulin: IMPAIRED FOLDING EFFICIENCY DESPITE NATIVE ACTIVITYSolution Structure of Proinsulin: CONNECTING DOMAIN FLEXIBILITY AND PROHORMONE PROCESSINGInsight into the Structural and Biological Relevance of the T/R Transition of the N-Terminus of the B-Chain in Human InsulinProtective hinge in insulin opens to enable its receptor engagementGenetics and pathophysiology of neonatal diabetes mellitus.Structural and functional study of the GlnB22-insulin mutant responsible for maturity-onset diabetes of the youngPLIN2 is a Key Regulator of the Unfolded Protein Response and Endoplasmic Reticulum Stress Resolution in Pancreatic β CellsConformational dynamics of insulin.Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).Misfolded proinsulin affects bystander proinsulin in neonatal diabetesTransgenic zebrafish model of the C43G human insulin gene mutationA point mutation in Sec61alpha1 leads to diabetes and hepatosteatosis in mice.Many faces of monogenic diabetesInsulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies.Contribution of residue B5 to the folding and function of insulin and IGF-I: constraints and fine-tuning in the evolution of a protein family.Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transportIn vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.Hyperglucagonemia in an animal model of insulin- deficient diabetes: what therapy can improve it?Short telomeres compromise β-cell signaling and survival.Control of precursor maturation and disposal is an early regulative mechanism in the normal insulin production of pancreatic β-cells.Absence of birth-weight lowering effect of ADCY5 and near CCNL, but association of impaired glucose-insulin homeostasis with ADCY5 in Asian Indians.PERK (EIF2AK3) regulates proinsulin trafficking and quality control in the secretory pathway.Neonatal diabetes mellitus: a model for personalized medicineGene-specific function prediction for non-synonymous mutations in monogenic diabetes genes.Substrate-favored lysosomal and proteasomal pathways participate in the normal balance control of insulin precursor maturation and disposal in β-cells.Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene.Deciphering a molecular mechanism of neonatal diabetes mellitus by the chemical synthesis of a protein diastereomer, [D-AlaB8]human proinsulin.Wolcott-Rallison syndromeDeciphering the hidden informational content of protein sequences: foldability of proinsulin hinges on a flexible arm that is dispensable in the mature hormoneFunctional analysis of Rfx6 and mutant variants associated with neonatal diabetes.
P2860
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P2860
Insulin gene mutations as a cause of permanent neonatal diabetes.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Insulin gene mutations as a cause of permanent neonatal diabetes.
@ast
Insulin gene mutations as a cause of permanent neonatal diabetes.
@en
type
label
Insulin gene mutations as a cause of permanent neonatal diabetes.
@ast
Insulin gene mutations as a cause of permanent neonatal diabetes.
@en
prefLabel
Insulin gene mutations as a cause of permanent neonatal diabetes.
@ast
Insulin gene mutations as a cause of permanent neonatal diabetes.
@en
P2093
P2860
P50
P356
P1476
Insulin gene mutations as a cause of permanent neonatal diabetes.
@en
P2093
Ann-Marie Patch
Anna Pluzhnikov
Donald F Steiner
Emma L Edghill
Graeme I Bell
Gregory M Lipkind
Honggang Ye
Julie Støy
Louis H Philipson
Neonatal Diabetes International Collaborative Group
P2860
P304
15040-15044
P356
10.1073/PNAS.0707291104
P407
P50
P577
2007-09-12T00:00:00Z