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 | Zendy

Klemens Raile | Zendy; Jürgen Klammt | Zendy; Anke Schneider | Zendy; Annika Keller | Zendy; Sandy Laue | Zendy; Rosemarie Smith | Zendy; Roland Pfäffle | Zendy; J. Kratzsch | Zendy; E Keller | Zendy; Wieland Kieß | Zendy

Open Access

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

Author(s) -

Klemens Raile,

Jürgen Klammt,

Anke Schneider,

Annika Keller,

Sandy Laue,

Rosemarie Smith,

Roland Pfäffle,

J. Kratzsch,

E Keller,

Wieland Kieß

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2005-2146

Subject(s) - insulin like growth factor 1 receptor , autophosphorylation , endocrinology , medicine , insulin receptor , biology , protein kinase b , signal transduction , receptor , insulin like growth factor , phosphorylation , insulin resistance , growth factor , insulin , microbiology and biotechnology , protein kinase a

Signaling via the IGF-I receptor (IGF-IR) is crucial for normal prenatal and postnatal growth. The heterozygous IGF-IR mutation Arg59Ter resulted in reduced IGF-IR expression and represents haploinsufficiency of the human IGF1R gene.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research