hrp0089p1-p144 | GH & IGFs P1 | ESPE2018

A New p.(Ile66Serfs*93) IGF2 Variant Is Associated with SRS-like Phenotype

Rockstroh Denise , Pfaffle Heike , Le Duc Diana , Roszler Franziska , Schlensog-Schuster Franziska , Heiker John T , Kratzsch Jurgen , Kiess Wieland , Lemke Johannes , Abou Jamra Rami , Pfaffle Roland

The Silver-Russel syndrome (SRS) is characterized by an intrauterine growth retardation accompanied by postnatal growth deficiency. Affected individuals typically have proportionately short statue, finger deformities as well as typical facial features. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7) and 35%–50% showed hypomethylation of the parental imprinting center region 1 (ICR1) of chromosome 11p15.5. In the recent past also ...

hrp0094p2-73 | Bone, growth plate and mineral metabolism | ESPE2021

PTEN downregulation in mouse osteoprogenitor cells impacts on bone stability and turnover

Lorenz Judith , Kirstein Anna , Nebe Michѐle , Richter Sandy , Le Duc Diana , Kiess Wieland , Kloting-Bluher Nora , Baschant Ulrike , Garten Antje ,

Background: Signaling through the phosphoinositid-3-kinase (PI3K) pathway modulates bone development and remodeling. We aimed to dissect the role of phosphatase and tensin homolog (Pten), a negative regulator of PI3K signaling, in osteoprogenitor cells.Methods: Femura, tibiae and bone marrow stromal cells (BMSCs) from mice with Cre-inducible Pten knockdown in cells expressing the transcription factor Osterix (Pten cKO) a...

hrp0095fc4.5 | Fat, Metabolism and Obesity | ESPE2022

Pten knockout in osteoprogenitor cells leads to loss of adipose tissue

Kolbig Florentien , Lorenz Judith , Roth Lisa , Lindhorst Andreas , Thor Doreen , Le Duc Diana , Gericke Martin , Kiess Wieland , Klöting Nora , Krause Kerstin , Garten Antje

Background and Aim: Pediatric patients with germline mutations in the phosphatase and tensin homolog (Pten) gene frequently develop aberrant adipose tissue growth called lipomas. In severe cases, recurrent lipoma formation can have adverse effects on organ function and quality of life. Due to the lack of understanding the basis of lipoma development, no systemic treatment options are available. We therefore aimed to characterize an already described lipoma bea...

hrp0095rfc4.3 | Fat, Metabolism and Obesity | ESPE2022

Phospholipid scramblase 4 regulates adipocyte differentiation via PIP3-mediated AKT activation

A.G. Barth Lisa , Nebe Michèle , Kalwa Hermann , Velluva Akhil , Kehr Stephanie , Kiews Wieland , Le Duc Diana , Garten Antje , S. Kirstein Anna

Background and aim: PTEN hamartoma tumor syndrome (PHTS) is caused by germline mutation in the phosphatase and tensin homolog (PTEN) gene. PTEN is a tumor suppressor gene and antagonist of the growth and survival signalling Phosphoinositide 3-kinase (PI3K)/AKT/mammalian target of Rapamycin (mTOR)- cascade. Patients with PHTS, amongst other symptoms, develop lipomas, for which the underlying mechanism is not completely understood. To investigate the role of PTE...