Emanuele M. Nola

Data from Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

Sandra D. Castillo, Xabier Perosanz, Andrew K. Ressler, Marta Ivars et autres

Abstract PTEN hamartoma tumor syndrome (PHTS) is a rare tumor risk disorder caused by germline loss-of-function mutations in PTEN. Half of these patients develop vascular malformations, a hamartoma characterized by overgrowth of vessels. In this study, we harness biopsies and patient-derived endothelial …

Figure S6 from Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

Sandra D. Castillo, Xabier Perosanz, Andrew K. Ressler, Marta Ivars et autres

Patients with PHTS treated with rapamycin; related to Figure 4.

Figure S3 from Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

Sandra D. Castillo, Xabier Perosanz, Andrew K. Ressler, Marta Ivars et autres

PTEN loss in ECs causes lymphatic vascular malformations in the ear skin of mice.

Table S3 from Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

Sandra D. Castillo, Xabier Perosanz, Andrew K. Ressler, Marta Ivars et autres

List of antibodies.

Table S2 from Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

Sandra D. Castillo, Xabier Perosanz, Andrew K. Ressler, Marta Ivars et autres

List of primers.

Figure S4 from Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

Sandra D. Castillo, Xabier Perosanz, Andrew K. Ressler, Marta Ivars et autres

PTEN loss in ECs causes blood vascular malformations in mice.

Figure S2 from Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

Sandra D. Castillo, Xabier Perosanz, Andrew K. Ressler, Marta Ivars et autres

Loss of endothelial PTEN protein expression in vascular malformations of patients with PHTS.

Figure S1 from Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

Sandra D. Castillo, Xabier Perosanz, Andrew K. Ressler, Marta Ivars et autres

Clinical characteristics of vascular malformations in patients with PHTS; related to Figure 1.

Table S1 from Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

Sandra D. Castillo, Xabier Perosanz, Andrew K. Ressler, Marta Ivars et autres

Somatic allelic imbalance analysis using MoChA.

Figure S5 from Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

Sandra D. Castillo, Xabier Perosanz, Andrew K. Ressler, Marta Ivars et autres

Preclinical study of alpelisib in mice with PTEN-related vascular malformations.

Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

Sandra D. Castillo, Xabier Perosanz, Andrew K. Ressler, Marta Ivars et autres

PTEN hamartoma tumor syndrome (PHTS) is a rare tumor risk disorder caused by germline loss-of-function mutations in PTEN. Half of these patients develop vascular malformations, a hamartoma characterized by overgrowth of vessels. In this study, we harness biopsies and patient-derived endothelial cells …

es, us (code pays fourni par la source)

NR5A2/LRH-1 regulates the PTGS2-PGE2-PTGER1 pathway contributing to pancreatic islet survival and function

Eugenia Martin Vázquez, Nadia Cobo‐Vuilleumier, Raquel Araujo Legido, Sandra Marín‐Cañas et autres

LRH-1/NR5A2 is implicated in islet morphogenesis postnatally, and its activation using the agonist BL001 protects islets against apoptosis, reverting hyperglycemia in mouse models of Type 1 Diabetes Mellitus. Islet transcriptome profiling revealed that the expression of PTGS2/COX2 is increased by BL001. Herein, …

es, be, us (code pays fourni par la source)