{"doi":"10.2147/tacg.s56612","title":"Alström syndrome: current perspectives","abstract":null,"journal":"The Application of Clinical Genetics","year":2015,"id":671345,"datarank":2.671066058384591,"base_score":4.04305126783455,"endowment":4.04305126783455,"self_citation_contribution":0.6064576901751826,"citation_network_contribution":2.0646083682094085,"self_endowment_contribution":0.6064576901751826,"citer_contribution":2.0646083682094085,"corpus_percentile":null,"corpus_rank":null,"citation_count":56,"citer_count":53,"citers_with_citation_signal":47,"citers_with_endowment":47,"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":1753863,"name":"Maria Alvarez-Satta","orcid":null,"position":1,"is_corresponding":false},{"id":1753866,"name":"Sheila Castro-Sánchez","orcid":null,"position":2,"is_corresponding":false},{"id":1519214,"name":"Diana Valverde","orcid":"0000-0002-7024-1657","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Alström syndrome: current perspectives","abstract":"Alström syndrome (ALMS) is a rare genetic disorder that has been included in the ciliopathies group, in the last few years. Ciliopathies are a growing group of diseases associated with defects in ciliary structure and function. The development of more powerful genetic approaches has been replaced the strategies to follow for getting a successful molecular diagnosis for these patients, especially for those without the typical ALMS phenotype. In an effort to deepen the understanding of the pathogenesis of ALMS disease, much work has been done, in order to establish the biological implication of ALMS1 protein, which is still being elucidated. In addition to its role in ciliary function and structure maintenance, this protein has been implicated in intracellular trafficking, regulation of cilia signaling pathways, and cellular differentiation, among others. All these progresses will lead to identifying therapeutic targets, thus opening the way to future personalized therapies for human ciliopathies.","is_dataset_classified":null,"base_score":4.04305126783455,"endowment":4.04305126783455,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"26229500","pmcid":"PMC4516341","openalex_id":"https://openalex.org/W1823321684","authors":[],"funders":[{"funder_name":"European Commission","grant_id":"316265","title":"BIOMEDICAL CAPACITIES SUPPORT PROGRAM"}],"total_grants":1,"fwci":3.3682,"citation_percentile":0.9248282,"influential_citations":0,"citation_trend":[{"year":2016,"count":4},{"year":2017,"count":6},{"year":2018,"count":5},{"year":2019,"count":4},{"year":2020,"count":4},{"year":2021,"count":9},{"year":2022,"count":5},{"year":2023,"count":3},{"year":2024,"count":9},{"year":2025,"count":4},{"year":2026,"count":3}],"oa_status":"gold","license":"cc-by-nc","oa_locations":[{"url":"https://www.dovepress.com/getfile.php?fileID=26063","host_type":"journal"},{"url":"https://www.dovepress.com/getfile.php?fileID=26063","host_type":"publisher"},{"url":"https://doi.org/10.2147/tacg.s56612","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/26229500","host_type":"repository"},{"url":"https://www.dovepress.com/alstroumlm-syndrome-current-perspectives-peer-reviewed-article-TACG","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4516341","host_type":"repository"},{"url":"https://doaj.org/article/9fc352f7461f4550b09e19af04e09392","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC4516341","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC4516341?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Genetic and Kidney Cyst Diseases","Genetic Syndromes and Imprinting","Renal and related cancers","0301 basic medicine","0303 health sciences","03 medical and health sciences"],"mesh_terms":[],"keywords":["Ciliopathies","Cilium","Bardet–Biedl syndrome","Ciliopathy","Bioinformatics","Disease","Medicine","Neuroscience","Biology","Computational biology","Phenotype","Genetics","Gene","Pathology","Molecular diagnosis","Alström Syndrome","Alms1 Gene","Alms1 Protein","Medicine (General)","R5-920","QH426-470"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. Good health"},{"sdg_number":16,"sdg_label":"16. Peace & justice"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"omim"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-16T02:16:39.728524Z","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":[]}