Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation. (Q39400999)

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22 January 2020

title

Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation (English)

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22 January 2020

4

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Shin-Ichiro Takahashi

8

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22 January 2020

author name string

Yuki Kawashima

1

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22 January 2020

Katsumi Higaki

2

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22 January 2020

Toshiaki Fukushima

3

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22 January 2020

Jun-ichi Nagaishi

5

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22 January 2020

Keiichi Hanaki

6

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22 January 2020

Eiji Nanba

7

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22 January 2020

Susumu Kanzaki

9

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publication date

1 August 2012

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22 January 2020

published in

Clinical Endocrinology

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22 January 2020

volume

77

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issue

2

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page(s)

246-254

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The IGF-I receptor in cancer research

22 January 2020

cites work

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The insulin-like growth factor system and cancer

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Role of insulin-like growth factors in embryonic and postnatal growth

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Distinct and overlapping functions of insulin and IGF-I receptors

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IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation

21 January 2018

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Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.

21 January 2018

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Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R.

21 January 2018

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A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.

21 January 2018

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A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization

21 January 2018

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Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation

21 January 2018

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A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation

21 January 2018

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Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure

21 January 2018

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Structure and function of the type 1 insulin-like growth factor receptor.

21 January 2018

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Structural biology of insulin and IGF1 receptors: implications for drug design

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Alanine scanning mutagenesis of a type 1 insulin-like growth factor receptor ligand binding site

21 January 2018

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beta-arrestins regulate mitogenic signaling and clathrin-mediated endocytosis of the insulin-like growth factor I receptor

21 January 2018

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Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.

21 January 2018

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Effect of mutations at serines 1280-1283 on the mitogenic and transforming activities of the insulin-like growth factor I receptor

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Structure of the insulin receptor ectodomain reveals a folded-over conformation

21 January 2018

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The first three domains of the insulin receptor differ structurally from the insulin-like growth factor 1 receptor in the regions governing ligand specificity

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Simian virus 40 large tumor antigen is unable to transform mouse embryonic fibroblasts lacking type 1 insulin-like growth factor receptor

21 January 2018

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21 January 2018

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Insulin-like growth factor-I receptor internalization regulates signaling via the Shc/mitogen-activated protein kinase pathway, but not the insulin receptor substrate-1 pathway

21 January 2018

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Role of ubiquitination in IGF-1 receptor signaling and degradation

21 January 2018

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Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay

21 January 2018

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Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype

21 January 2018

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Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene

21 January 2018

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21 January 2018

Identifiers

DOI

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22 January 2020

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