Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia  

作　　者：Alberto Gomez-Carballa Maria Jose Curras-Tuala Sara Pischedda Miriam Cebey-Lopez Jose Gomez-Rial Irene Rivero-Cale Jacobo Pardo-seco Xabier Bello Sandra Viz-Lasheras Antonio Justicia-Grande Julian Montoto-Louzao Alba Camino-Mera Isabel Ferreiros-Vidal Maximo Fraga Jose RAntunez Rodolfo Gomez Federico Martinon-Torres Antonio Salas 

机构地区：[1]Genetics,Vaccines and Infections Research Group(GENVIP),Instituto de Investigacion Sanitaria de Santiago,Santiagode Compostela,Galicia 15706,Spain [2]Translational Pediatrics and Infectious Diseases,Department of Pediatrics,Hospital Clinico Universitario de Santiago de Compostela,Servicio Galego de Saude(SERGAS),Galicia 15706,Spain [3]Laboratorio de Inmunologia,Servicio de Andlisis Clinicos,Hospital Clinico Universitario de Santiago de Compostela,Servicio Galego de Saude(SERGAS),Galicia 15706,Spain [4]Unidade de Xenetica,Instituto de Ciencias Forenses(INCIFOR),Facultade de Medicina,Universidade de Santiago de Compostela,and GenPoB Research Group,Instituto de Investigacion Sanitaria,Hospital Clinico Universitario de Santiago de Compostela,Servicio Galego de Saude(SERGAS),Galicia 15706,Spain [5]Musculoskeletal Pathology Group,Instituto de Investigacion Sanitaria de Santiago,Servicio Galego de Saude(SERGAS),Santiago de Compostela,Galicia 15706,Spain [6]Department of Pathology,Hospital Clinico Universitario de Santiago de Compostela(SERGAS),Galicia 15706,Spain Unidad Integrada de Biobancos,Biomodelos 3D y Modelos [7]Animales,IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela),Galicia15706,Spain [8]Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES),Madrid,Spain

出　　处：《Genes & Diseases》2024年第3期22-25,共4页基因与疾病（英文）

摘　　要：Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)gene.However,the molecular mechanisms underlying HO remain poorly understood.As a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches.

关 键 词：stimulating driving ASI 

分 类 号：R71[医药卫生—妇产科学]