Insulin gene mutations as a cause of permanent neonatal diabetes. - Wikidata - awgldk - TriplyDB

Insulin gene mutations as a cause of permanent neonatal diabetes.

Insulin gene mutations as a cause of permanent neonatal diabetes.

http://www.wikidata.org/entity/Q36002587

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Carboxypeptidase E mediates palmitate-induced beta-cell ER stress and apoptosis Infantile onset diabetes mellitus in developing countries - India Dissecting diabetes/metabolic disease mechanisms using pluripotent stem cells and genome editing tools New insights from monogenic diabetes for "common" type 2 diabetes INS-gene mutations: from genetics and beta cell biology to clinical disease Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment Sox17 regulates insulin secretion in the normal and pathologic mouse β cell The A-chain of insulin contacts the insert domain of the insulin receptor. Photo-cross-linking and mutagenesis of a diabetes-related crevice Crystal Structure of a"Nonfoldable"Insulin: IMPAIRED FOLDING EFFICIENCY DESPITE NATIVE ACTIVITY Solution Structure of Proinsulin: CONNECTING DOMAIN FLEXIBILITY AND PROHORMONE PROCESSING Insight into the Structural and Biological Relevance of the T/R Transition of the N-Terminus of the B-Chain in Human Insulin Protective hinge in insulin opens to enable its receptor engagement Genetics and pathophysiology of neonatal diabetes mellitus.Structural and functional study of the GlnB22-insulin mutant responsible for maturity-onset diabetes of the young PLIN2 is a Key Regulator of the Unfolded Protein Response and Endoplasmic Reticulum Stress Resolution in Pancreatic β Cells Conformational 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 diabetes Transgenic zebrafish model of the C43G human insulin gene mutation A point mutation in Sec61alpha1 leads to diabetes and hepatosteatosis in mice.Many faces of monogenic diabetes Insulin 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 transport In 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 medicine Gene-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 syndrome Deciphering the hidden informational content of protein sequences: foldability of proinsulin hinges on a flexible arm that is dispensable in the mature hormone Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes.

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Insulin gene mutations as a cause of permanent neonatal diabetes.

http://www.wikidata.org/entity/Q36002587

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2007 nî lūn-bûn

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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2007年论文

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2007年论文

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Insulin gene mutations as a cause of permanent neonatal diabetes.

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Insulin gene mutations as a cause of permanent neonatal diabetes.

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PNAS.0707291104

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Proceedings of the National Academy of Sciences of the United States of America

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Insulin gene mutations as a cause of permanent neonatal diabetes.

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Ann-Marie Patch

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Anna Pluzhnikov

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Donald F Steiner

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Emma L Edghill

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Graeme I Bell

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Gregory M Lipkind

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Honggang Ye

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Julie Støy

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Louis H Philipson

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Neonatal Diabetes International Collaborative Group

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P2860

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

A structurally abnormal insulin causing human diabetes

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism

PLINK: a tool set for whole-genome association and population-based linkage analyses

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

Targeted disruption of the Chop gene delays endoplasmic reticulum stress-mediated diabetes

Allegro, a new computer program for multipoint linkage analysis

Chiral mutagenesis of insulin. Foldability and function are inversely regulated by a stereospecific switch in the B chain

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Andrew Tym Hattersley

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