Genotype-phenotype correlation in inherited severe insulin resistance. - Wikidata - wikimedia - TriplyDB

Genotype-phenotype correlation in inherited severe insulin resistance.

Genotype-phenotype correlation in inherited severe insulin resistance.

http://www.wikidata.org/entity/Q34129778

about

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene RILM: a web-based resource to aid comparative and functional analysis of the insulin and IGF-1 receptor family.Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating.Proteomic profiling of human intraschisis cavity fluid Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.Genetic insulin resistance is a potent regulator of gene expression and proliferation in human iPS cells Genetically defined pancreatic beta cell failure.Acquired non-type 1 diabetes in childhood: subtypes, diagnosis, and management.Severe insulin resistance alters metabolism in mesenchymal progenitor cells.Genetics of Type 2 diabetes.Novel roles for insulin receptor (IR) in adipocytes and skeletal muscle cells via new and unexpected substrates.Insulin Resistance in Human iPS Cells Reduces Mitochondrial Size and Function.Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.Congenital disease SNPs target lineage specific structural elements in protein kinases PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy Metreleptin improves blood glucose in patients with insulin receptor mutations.Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.Paediatrics, insulin resistance and the kidney.Analysis of a single-codon E746 deletion in exon 19 of the epidermal growth factor receptor.Glucagon receptor inhibition normalizes blood glucose in severe insulin-resistant mice.Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.Donohue syndrome and use of continuous subcutaneous insulin pump therapy.Rabson Mendenhall Syndrome caused by a novel missense mutation.Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence Leprechaunism - a case report.Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene.Novel mutation in insulin receptor gene identified after muscle biopsy in a Niuean woman with severe insulin resistance.The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model.A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases.Enteroinsular hormones in two siblings with Donohue syndrome and complete leptin deficiency.Hypoglycaemia revealing heterozygous insulin receptor mutations.Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.Glimepiride treatment in a patient with type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene.Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.Rabson-mendenhall syndrome.

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P2860

Genotype-phenotype correlation in inherited severe insulin resistance.

http://www.wikidata.org/entity/Q34129778

description

2002 nî lūn-bûn

@nan

2002 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2002年の論文

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2002年論文

@yue

2002年論文

@zh-hant

2002年論文

@zh-hk

2002年論文

@zh-mo

2002年論文

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2002年论文

@wuu

name

Genotype-phenotype correlation in inherited severe insulin resistance.

@ast

Genotype-phenotype correlation in inherited severe insulin resistance.

@en

Genotype-phenotype correlation in inherited severe insulin resistance.

@nl

type

label

Genotype-phenotype correlation in inherited severe insulin resistance.

@ast

Genotype-phenotype correlation in inherited severe insulin resistance.

@en

Genotype-phenotype correlation in inherited severe insulin resistance.

@nl

prefLabel

Genotype-phenotype correlation in inherited severe insulin resistance.

@ast

Genotype-phenotype correlation in inherited severe insulin resistance.

@en

Genotype-phenotype correlation in inherited severe insulin resistance.

@nl

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Human Molecular Genetics

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Genotype-phenotype correlation in inherited severe insulin resistance.

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Daniel Giannella-Neto

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Nicola Longo

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Sharon D Langley

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Shelley A Smith

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Yuhuan Wang

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1465-1475

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scholarly article

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10.1093/HMG/11.12.1465

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12

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11

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Linda A. DiMeglio

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2002-06-01T00:00:00Z

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277495112

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12023989

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