{"doi":"10.1093/hmg/1.2.115","title":"A male with two contiguous inactivation centers on a single X chromosome: study of X inactivation and XIST expression","abstract":null,"journal":"Human Molecular Genetics","year":1992,"id":601683,"datarank":0.4566783656585135,"base_score":3.044522437723423,"endowment":3.044522437723423,"self_citation_contribution":0.4566783656585135,"citation_network_contribution":0.0,"self_endowment_contribution":0.4566783656585135,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":20,"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":1542828,"name":"D. Lena","orcid":null,"position":1,"is_corresponding":false},{"id":1542829,"name":"M.G. Mettei","orcid":null,"position":2,"is_corresponding":false},{"id":1542830,"name":"M. Fontes","orcid":null,"position":3,"is_corresponding":false},{"id":1542827,"name":"F. Muscatelli","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"A male with two contiguous inactivation centers on a single X chromosome: study of X inactivation and XIST expression","abstract":"This report investigates the case of a patient with a duplication of the long arm of the X chromosome containing the putative X inactivation center (XIC) and the recently isolated XIST (X inactive-specific transcript) gene which is thought to play a role in the X inactivation process. Based on replication studies, a two-fold higher than normal phosphoglycerate kinase activity and absence of XIST expression, we conclude that the duplicated region is not subject to X-inactivation, despite the presence of two XICs. These results are discussed with respect to different models of X inactivation.","is_dataset_classified":null,"base_score":3.044522437723423,"endowment":3.044522437723423,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"1301147","pmcid":null,"openalex_id":"https://openalex.org/W2059846038","authors":[],"funders":[],"total_grants":0,"fwci":1.3931,"citation_percentile":0.81737703,"influential_citations":0,"citation_trend":[{"year":2015,"count":1},{"year":2020,"count":2},{"year":2022,"count":1}],"oa_status":"closed","license":null,"oa_locations":[{"url":"http://academic.oup.com/hmg/article-pdf/1/2/115/1803861/1-2-115.pdf","host_type":"publisher"},{"url":"https://doi.org/10.1093/hmg/1.2.115","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/1301147","host_type":"repository"},{"url":"http://hmg.oxfordjournals.org/cgi/content/short/1/2/115","host_type":"repository"}],"fields_of_study":["Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities"],"mesh_terms":["Abnormalities, Multiple","Base Sequence","Cells, Cultured","Child, Preschool","DNA, Single-Stranded","Dosage Compensation, Genetic","Female","Multigene Family","Humans","Male","Molecular Sequence Data","Transcription Factors","X Chromosome","Gene Expression","Polymerase Chain Reaction","RNA, Untranslated","RNA, Long Noncoding"],"keywords":["XIST","X-inactivation","Biology","X chromosome","Genetics","Dosage compensation","Phosphoglycerate kinase","Gene duplication","Gene","Cell biology"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-29T17:05:32.417597Z","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":[]}