{"doi":"10.1051/medsci/20143011016","title":"Complexité génétique des ciliopathies et identification de nouveaux gènes","abstract":null,"journal":"médecine/sciences","year":2014,"id":668705,"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":1675689,"name":"Ruxandra Bachmann-Gagescu","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Complexité génétique des ciliopathies et identification de nouveaux gènes","abstract":"Ciliopathies are a large group of human disorders caused by dysfunction of primary or motile cilia and unified by their overlapping clinical features (brain malformations, retinal dystrophy, cystic kidney disease, liver fibrosis and skeletal abnormalities). Ciliopathies are mendelian disorders with prominent genetic heterogeneity and marked allelism between different clinical entities, which are in part explained by the recently identified functional modules and multi-protein complexes formed by ciliopathy-associated gene products. The current review provides an updated snapshot of this complex evolving field, highlighting the key phenotypic features and causative genes for commonly-studied ciliopathies and summarizing our emerging understanding of the correlations between the functions of subgroups of genes and clinical sub-types of ciliopathies. Using the example of Joubert syndrome, a ciliopathy characterized by a distinctive hindbrain malformation and caused by mutations in more than 20 different genes, this work also reviews the principal methods used for new gene identification, including candidate gene approaches, homozygosity mapping as well as high throughput next-generation and exome sequencing.","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":"25388584","pmcid":null,"openalex_id":"https://openalex.org/W2054668299","authors":[],"funders":[{"funder_name":"Swiss National Science Foundation","grant_id":"142404","title":"Understanding genetic modifiers in ciliopathies using the zebrafish model"}],"total_grants":1,"fwci":3.1984,"citation_percentile":0.91960163,"influential_citations":0,"citation_trend":[{"year":2014,"count":11},{"year":2016,"count":2},{"year":2017,"count":2},{"year":2018,"count":2},{"year":2024,"count":1},{"year":2025,"count":1},{"year":2026,"count":1}],"oa_status":"bronze","license":"other-oa","oa_locations":[{"url":"https://www.medecinesciences.org/articles/medsci/pdf/2014/10/medsci20143011p1011.pdf","host_type":"journal"},{"url":"https://www.medecinesciences.org/articles/medsci/pdf/2014/10/medsci20143011p1011.pdf","host_type":"publisher"},{"url":"http://www.medecinesciences.org/10.1051/medsci/20143011016/pdf","host_type":"publisher"},{"url":"https://doi.org/10.1051/medsci/20143011016","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/25388584","host_type":"repository"},{"url":"https://www.zora.uzh.ch/id/eprint/104662/1/Bachmann-Gagesu%2C%20Complexit%C3%A9%20g%C3%A9n%C3%A9tique%20des%20ciliopathies.pdf","host_type":"repository"},{"url":"https://www.medecinesciences.org/10.1051/medsci/20143011016/pdf","host_type":"repository"},{"url":"https://doi.org/10.5167/uzh-104662","host_type":""},{"url":"https://dx.doi.org/10.5167/uzh-104662","host_type":""},{"url":"https://dx.doi.org/10.1051/medsci/20143011016","host_type":""},{"url":"https://www.zora.uzh.ch/id/eprint/104662/","host_type":""},{"url":"http://dx.doi.org/10.1051","host_type":""}],"fields_of_study":["Genetic and Kidney Cyst Diseases","Hedgehog Signaling Pathway Studies","Protist diversity and phylogeny","0303 health sciences","03 medical and health sciences","Abnormalities, Multiple","Animals","Cell Polarity","Cerebellar Diseases","Cerebellum","Chromosome Mapping","Cilia","Ciliary Motility Disorders","Disease Models, Animal","Eye Abnormalities","Forecasting","Genes, Recessive","Genetic Association Studies","Genetic Diseases, Inborn","Genetic Heterogeneity","Humans","Kidney Diseases, Cystic","Membrane Proteins","Microtubule Proteins","Molecular Motor Proteins","Phenotype","Polymorphism, Single Nucleotide","Proteomics","Retina","Sequence Analysis, DNA","Syndrome","Systems Biology","Agenesis of Cerebellar Vermis"],"mesh_terms":["Abnormalities, Multiple","Animals","Cerebellar Diseases","Cerebellum","Chromosome Mapping","Cilia","Ciliary Motility Disorders","Disease Models, Animal","Eye Abnormalities","Forecasting","Genes, Recessive","Humans","Membrane Proteins","Microtubule Proteins","Phenotype","Retina","Syndrome","Cell Polarity","Sequence Analysis, DNA","Genetic Heterogeneity","Molecular Motor Proteins","Polymorphism, Single Nucleotide","Genetic Diseases, Inborn","Proteomics","Systems Biology","Kidney Diseases, Cystic","Genetic Association Studies"],"keywords":["Ciliopathies","Ciliopathy","Joubert syndrome","Cilium","Nephronophthisis","Biology","Genetics","Disease gene identification","Ciliogenesis","Exome sequencing","Gene","Phenotype","10039 Institute of Medical Genetics","1300 General Biochemistry, Genetics and Molecular Biology","570 Life sciences; biology","610 Medicine & health","610 Medicine & health","10124 Institute of Molecular Life Sciences"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. Good health"},{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-14T12:31:32.095138Z","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":[]}