Associated Papers
Clinical and Molecular Spectrum of PPP2R1A-Related Neurodevelopmental Disorders: A Systematic Review.
Lee J et al.
Genes, 2025
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
Ppp2r1a haploinsufficiency increases excitatory synaptic transmission and decreases spatial learning by impairing endocannabinoid signaling.
Wang Y et al.
The Journal of Clinical Investigation, 2025
Prenatal Characterization of Houge-Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations.
Hu J et al.
Molecular Genetics & Genomic Medicine, 2025
The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).
Zhang L et al.
Elife, 2024
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
SMARCA4-deficient central nervous system metastases: A case series and systematic review.
Morris M et al.
Journal of Neuropathology and Experimental Neurology, 2024
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.
Roldán M et al.
International Journal of Molecular Sciences, 2023
Novel Variants of PPP2R1A in Catalytic Subunit Binding Domain and Genotype-Phenotype Analysis in Neurodevelopmentally Delayed Patients.
Qian Y et al.
Genes, 2023
Prenatal Diagnosis of PPP2R1A-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature.
Lei T et al.
Genes, 2023
Druggable gene alterations in Japanese patients with rare malignancy.
Ohmoto A et al.
Neoplasia (new York, N.y.), 2022
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Baker EK et al.
American Journal of Medical Genetics. Part A, 2022
Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.
Ghezelayagh TS et al.
Cancer Research Communications, 2022
Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.
Hong JH et al.
Journal of Gynecologic Oncology, 2022
Protein phosphatase 2A - structure, function and role in neurodevelopmental disorders.
Sandal P et al.
Journal of Cell Science, 2021
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lenaerts L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A De Novo Variant Identified in the PPP2R1A Gene in an Infant Induces Neurodevelopmental Abnormalities.
Zhang Y et al.
Neuroscience Bulletin, 2020
A Newborn with Severe Ventriculomegaly: Expanding the PPP2R1A Gene Mutation Phenotype.
Wallace A et al.
Journal of Pediatric Genetics, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
The Highly Recurrent PP2A Aα-Subunit Mutation P179R Alters Protein Structure and Impairs PP2A Enzyme Function to Promote Endometrial Tumorigenesis.
Taylor SE et al.
Cancer Research, 2019
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Houge G et al.
The Journal of Clinical Investigation, 2015
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown Author
Nature, 2015
PPP2R1A mutations are common in the serous type of endometrial cancer.
Nagendra DC et al.
Molecular Carcinogenesis, 2012
Use of mutation profiles to refine the classification of endometrial carcinomas.
McConechy MK et al.
The Journal of Pathology, 2012
Subtype-specific mutation of PPP2R1A in endometrial and ovarian carcinomas.
McConechy MK et al.
The Journal of Pathology, 2011