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Article

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

Clinical endocrinology - 1 Aug 2012

Kawashima Yuki, Higaki Katsumi, Fukushima Toshiaki, Hakuno Fumihiko, Nagaishi Jun-ichi, Hanaki Keiichi, Nanba Eiji, Takahashi Shin-Ichiro, Kanzaki Susumu

Abstract excerpt

BACKGROUND: IGFs play key roles in intrauterine and postnatal growth through the IGF-I receptor (IGF-IR). We identified a family bearing a new heterozygous missense mutation at the L2 domain of IGF-IR (R431L). METHOD: We analysed the nucleotide sequences of the IGF1R gene of the family. We prepared R(-) cells (fibroblasts with targeted disruption of the IGF-IR gene) expressing wild-type or R431L IGF-IR and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, IGF Type 1

Source

Identifiers

PMID: 22309212
DOI: 10.1111/j.1365-2265.2012.04357.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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