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impe0096p81 | GH and IGFs | IMPE2023

Functional characterization of a novel intronic IGF1R gene variant.

Perez Garrido Natalia , Ramirez Pablo , Isabel Di Palma Maria , Ludmila Garcia Maria , Plomer Paula , Saraco Nora , Belgorosky Alicia , Guercio Gabriela , Ciaccio Marta , Marino Roxana

Background: IGF-1 receptor (IGF-1R) is widely expressed across many cell types in fetal and postnatal tissues. IGF-1R activation by IGF-1 and IGF-2 generates several responses including proliferation, and the protection of cells from apoptosis. Signaling through IGF-1R is the principal pathway responsible for somatic growth in fetal mammals, whereas in postnatal animals is achieved through synergistic interaction of growth hormone and the IGFs. IGF-1R gene mut...

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impe0096p90 | GH and IGFs | IMPE2023

Proposed criteria to guide the molecular study of the IGF-1 receptor gene (IGF1R)

Plomer Paula , Celeste Mattone María , Perez Garrido Natalia , César Ramirez Pablo , Marino Roxana , Manuel Lazzati Juan , Guercio Gabriela , Ciaccio Marta , Isabel Di Palma María

Background: The role of Insulin-Like Growth Factor 1 (IGF1) in pre- and postnatal growth and brain development is widely recognized. It binds and activates its transmembrane receptor encoded by the IGF1R gene (15q26.3). Defects of IGF1R produces IGF1 resistance, characterized by pre- and postnatal growth retardation, microcephaly, and normal/elevated IGF1 serum levels, with great phenotypic variability.Aim: To e...

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IMPE Abstracts

Functional characterization of a novel intronic IGF1R gene variant.

Proposed criteria to guide the molecular study of the IGF-1 receptor gene (IGF1R)

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