Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. - Wikidata - awgldk - TriplyDB

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.

http://www.wikidata.org/entity/Q33733949

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Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice Infantile onset diabetes mellitus in developing countries - India The emerging use of zebrafish to model metabolic disease 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 Involvement of KLF11 in hepatic glucose metabolism in mice via suppressing of PEPCK-C expression Genetics and pathophysiology of neonatal diabetes mellitus.Differential expression of dicer, miRNAs, and inflammatory markers in diabetic Ins2+/- Akita hearts Many faces of monogenic diabetes Inefficient translocation of preproinsulin contributes to pancreatic β cell failure and late-onset diabetes.Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport MicroRNA-133a regulates DNA methylation in diabetic cardiomyocytes.Neonatal diabetes mellitus: a model for personalized medicine Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene.Synergism in hyperhomocysteinemia and diabetes: role of PPAR gamma and tempol Attenuation of beta2-adrenergic receptors and homocysteine metabolic enzymes cause diabetic cardiomyopathy.Proinsulin 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 patients Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations Impaired cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetes Mechanistic role for a novel glucocorticoid-KLF11 (TIEG2) protein pathway in stress-induced monoamine oxidase A expression Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism.The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency Alterations in polyadenylation and its implications for endocrine disease.Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.The Krüppel-like protein Gli-similar 3 (Glis3) functions as a key regulator of insulin transcription.Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options.Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.Current understanding of K ATP channels in neonatal diseases: focus on insulin secretion disorders.The role of pancreatic imaging in monogenic diabetes mellitus.Management of diabetes mellitus in infants.Diabetes mellitus and the β cell: the last ten years.Insulin gene mutations and diabetes Cardiac transcriptome profiling of diabetic Akita mice using microarray and next generation sequencing.The roles of RNA processing in translating genotype to phenotype Genetic Factors of Diabetes.Diabetes-causing gene, kruppel-like factor 11, modulates the antinociceptive response of chronic ethanol intake.

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P2860

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.

http://www.wikidata.org/entity/Q33733949

description

2010 nî lūn-bûn

@nan

2010 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Recessive mutations in the INS ...... reduced insulin biosynthesis.

@ast

Recessive mutations in the INS ...... reduced insulin biosynthesis.

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type

label

Recessive mutations in the INS ...... reduced insulin biosynthesis.

@ast

Recessive mutations in the INS ...... reduced insulin biosynthesis.

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prefLabel

Recessive mutations in the INS ...... reduced insulin biosynthesis.

@ast

Recessive mutations in the INS ...... reduced insulin biosynthesis.

@en

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PNAS.0910533107

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

P1476

Recessive mutations in the INS ...... reduced insulin biosynthesis.

@en

P2093

Adnan Alshaikh

http://www.w3.org/2001/XMLSchema#string

Ann-Marie Patch

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Asma Deeb

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Dorothee Deiss

http://www.w3.org/2001/XMLSchema#string

Eduardo Fernández-Rebollo

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Emma L Edghill

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Estibaliz Ugarte

http://www.w3.org/2001/XMLSchema#string

Fauzia Mohsin

http://www.w3.org/2001/XMLSchema#string

Gabriel del Castillo

http://www.w3.org/2001/XMLSchema#string

Intza Garin

http://www.w3.org/2001/XMLSchema#string

P2860

Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism

Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic development

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

Identification of beta-cell-specific insulin gene transcription factor RIPE3b1 as mammalian MafA.

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

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

Translational regulation of proinsulin biosynthesis and proinsulin conversion in the pancreatic beta-cell

Regulation of insulin gene transcription

Members of the large Maf transcription family regulate insulin gene transcription in islet beta cells

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3105-3110

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scholarly article

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10.1073/PNAS.0910533107

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7

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107

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Andrew Tym Hattersley

Carlos Castaño

Guiomar Perez de Nanclares

Zdeněk Šumník

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2010-01-28T00:00:00Z

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41408474

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20133622

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