Search results for "STK11"
showing 3 items of 3 documents
Register and clinical follow-up of patients with Peutz-Jeghers syndrome in Valencia
2020
Introduction and aims: Peutz-Jeghers syndrome is a rare autosomal dominant inherited disease caused by a germline mutation of the STK11/LKB1 gene, located on chromosome 19p13.3. It is characterized by mucocutaneous hyperpigmentation, hamartomatous polyposis, and predisposition to cancer. The aim of the present study was to identify and register patients with Peutz-Jeghers syndrome, describe the disease, and estimate its prevalence in Valencia (Spain). Materials and methods: A print-out of the clinical histories from 10 hospitals was obtained utilizing the ICD-9 code 759.6 from the Minimum Basic Data Set of Hospital Admissions of the Spanish Ministry of Health and Consumer Affairs. Results: …
Metabolic and Functional Genomic Studies Identify Deoxythymidylate Kinase as a target in LKB1 Mutant Lung Cancer
2013
Abstract The LKB1/STK11 tumor suppressor encodes a serine/threonine kinase, which coordinates cell growth, polarity, motility, and metabolism. In non–small cell lung carcinoma, LKB1 is somatically inactivated in 25% to 30% of cases, often concurrently with activating KRAS mutations. Here, we used an integrative approach to define novel therapeutic targets in KRAS-driven LKB1-mutant lung cancers. High-throughput RNA interference screens in lung cancer cell lines from genetically engineered mouse models driven by activated KRAS with or without coincident Lkb1 deletion led to the identification of Dtymk, encoding deoxythymidylate kinase (DTYMK), which catalyzes dTTP biosynthesis, as synthetica…
Prevalencia, búsqueda y registro clínico asistencial de pacientes con síndrome de Peutz Jeghers en Valencia
2022
El síndrome de Peutz Jeghers es una enfermedad rara de herencia autosómica dominante causada por una mutación germinal del gen STK11/LKB1, que codifica para una proteína serina/treonina/kinasa. Consiste en poliposis hamartomatosa intestinal y extraintestinal, predisposición al cáncer e hiperpigmentación mucocutánea. Se asocia a complicaciones como dolor abdominal, sangrados gastrointestinales, anemia, prolapso y ulceración de los pólipos, obstrucción e invaginación intestinal. No existe ningún tratamiento específico, solamente la adecuada instauración de protocolos. Se incluyeron pacientes que habían acudido a 10 hospitales de la provincia de Valencia, utilizando el Conjunto Mínimo de Base …