{"doi":"10.1073/pnas.2109448119","title":"<i>Pten</i>\n                    heterozygosity restores neuronal morphology in fragile X syndrome mice","abstract":"<jats:title>Significance</jats:title>\n                  <jats:p>\n                    Phosphatase and tensin homolog protein (PTEN) and fragile X mental retardation protein (FMRP) play a vital role in neuronal development and function. This work provides new evidence for the genetic interaction of\n                    <jats:italic>Pten</jats:italic>\n                    and\n                    <jats:italic>Fmr1</jats:italic>\n                    in postnatal development of granule neurons and conserved mechanisms across evolution. The observed cellular phenotypic defects in\n                    <jats:italic>Pten</jats:italic>\n                    and\n                    <jats:italic>Fmr1</jats:italic>\n                    knockout (KO) could be rectified and restored by heterozygosity of\n                    <jats:italic>Pten</jats:italic>\n                    in\n                    <jats:italic>Fmr1</jats:italic>\n                    KO neurons. Additionally, increased expression of PTEN in background\n                    <jats:italic>Fmr1</jats:italic>\n                    KO animals suggests that FMRP negatively regulates PTEN, and we propose that introducing a combination of genetic mutations may normalize structural aspects of neuronal morphology by balancing each other’s expression.\n                  </jats:p>","journal":"Proceedings of the National Academy of Sciences","year":2022,"id":620591,"datarank":0.37273599746820013,"base_score":2.4849066497880004,"endowment":2.4849066497880004,"self_citation_contribution":0.37273599746820013,"citation_network_contribution":0.0,"self_endowment_contribution":0.37273599746820013,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":11,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1602087,"name":"Jasmine A. Saunders","orcid":null,"position":1,"is_corresponding":false},{"id":1602089,"name":"Jacob Slaughter","orcid":null,"position":2,"is_corresponding":false},{"id":662244,"name":"Kamran Tariq","orcid":"0000-0003-0074-4475","position":3,"is_corresponding":false},{"id":639953,"name":"Rajarshi Chakrabarti","orcid":"0000-0002-4184-8492","position":4,"is_corresponding":false},{"id":706276,"name":"Madhumala K. Sadanandappa","orcid":"0000-0001-6071-365X","position":5,"is_corresponding":false},{"id":662245,"name":"Bryan W. Luikart","orcid":"0000-0002-3181-6075","position":6,"is_corresponding":false},{"id":40470,"name":"Giovanni Bosco","orcid":"0000-0002-8889-9895","position":7,"is_corresponding":false},{"id":706277,"name":"S. Sathyanarayana","orcid":"0000-0003-1064-8989","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"<i>Pten</i>\n                    heterozygosity restores neuronal morphology in fragile X syndrome mice","abstract":"<jats:title>Significance</jats:title>\n                  <jats:p>\n                    Phosphatase and tensin homolog protein (PTEN) and fragile X mental retardation protein (FMRP) play a vital role in neuronal development and function. This work provides new evidence for the genetic interaction of\n                    <jats:italic>Pten</jats:italic>\n                    and\n                    <jats:italic>Fmr1</jats:italic>\n                    in postnatal development of granule neurons and conserved mechanisms across evolution. The observed cellular phenotypic defects in\n                    <jats:italic>Pten</jats:italic>\n                    and\n                    <jats:italic>Fmr1</jats:italic>\n                    knockout (KO) could be rectified and restored by heterozygosity of\n                    <jats:italic>Pten</jats:italic>\n                    in\n                    <jats:italic>Fmr1</jats:italic>\n                    KO neurons. Additionally, increased expression of PTEN in background\n                    <jats:italic>Fmr1</jats:italic>\n                    KO animals suggests that FMRP negatively regulates PTEN, and we propose that introducing a combination of genetic mutations may normalize structural aspects of neuronal morphology by balancing each other’s expression.\n                  </jats:p>","is_dataset_classified":null,"base_score":2.4849066497880004,"endowment":2.4849066497880004,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"35394871","pmcid":"PMC9169627","openalex_id":"https://openalex.org/W4223552914","authors":[],"funders":[{"funder_name":"HHS | NIH | National Institute of Mental Health","grant_id":"R01MH097949","title":null},{"funder_name":"National Institutes of Health","grant_id":"5R01MH097949-02","title":"The Impact of Pten Signaling on Neuronal Form and Function"}],"total_grants":2,"fwci":1.6815,"citation_percentile":0.84114728,"influential_citations":0,"citation_trend":[{"year":2022,"count":2},{"year":2023,"count":5},{"year":2024,"count":2},{"year":2025,"count":1},{"year":2026,"count":1}],"oa_status":"green","license":"cc-by-nc-nd","oa_locations":[{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9169627","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9169627","host_type":"repository"},{"url":"https://pnas.org/doi/pdf/10.1073/pnas.2109448119","host_type":"publisher"},{"url":"https://doi.org/10.1073/pnas.2109448119","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/35394871","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC9169627","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC9169627?pdf=render","host_type":"Europe_PMC"},{"url":"http://dx.doi.org/10.1073/pnas.2109448119","host_type":""}],"fields_of_study":["Genetics and Neurodevelopmental Disorders","Autism Spectrum Disorder Research","CRISPR and Genetic Engineering","0301 basic medicine","0303 health sciences","03 medical and health sciences","Animals","Dentate Gyrus","Disease Models, Animal","Fragile X Messenger Ribonucleoprotein 1","Fragile X Syndrome","Heterozygote","Mice","Mice, Inbred C57BL","Mice, Knockout","Neurogenesis","Neurons","PTEN Phosphohydrolase"],"mesh_terms":["Animals","Disease Models, Animal","Fragile X Syndrome","Heterozygote","Mice, Inbred C57BL","Neurons","Mice, Knockout","Dentate Gyrus","PTEN Phosphohydrolase","Mice","Fragile X Mental Retardation Protein","Fragile X Messenger Ribonucleoprotein 1","Neurogenesis"],"keywords":["PTEN","Tensin","FMR1","Loss of heterozygosity","Biology","Phenotype","Phosphatase","Knockout mouse","Fragile X syndrome","Cell biology","Genetics","PI3K/AKT/mTOR pathway","Cancer research","Fragile x","Gene","Signal transduction","Phosphorylation","Allele","dentate gyrus","Arborization","Spine Density","Mice, Knockout","Neurons","Heterozygote","Fragile X Messenger Ribonucleoprotein 1","Neurogenesis","PTEN Phosphohydrolase","Biological Sciences","Mice, Inbred C57BL","Disease Models, Animal","Mice","Animals"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Life in Land"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-03T11:31:29.819875Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}