DESCRIBE <http://purl.uniprot.org/citations/33297941>

Subject	Predicate	Object
http://purl.uniprot.org/citations/33297941	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/33297941	http://www.w3.org/2000/01/rdf-schema#comment	" Background Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described genes ARL3 and CEP120. Methods We sought to explore the developmental expression patterns of ARL3 and CEP120 in humans to gain additional understanding of these genetic conditions. We used an RNA in situ detection technique called RNAscope to characterise ARL3 and CEP120 expression patterns in human embryos and foetuses in collaboration with the MRC-Wellcome Trust Human Developmental Biology Resource. Results Both ARL3 and CEP120 are expressed in early human brain development, including the cerebellum and in the developing retina and kidney, consistent with the clinical phenotypes seen with pathogenic variants in these genes. Conclusions This study provides insights into the potential pathogenesis of JSRD by uncovering the spatial expression of two JSRD-causative genes during normal human development."xsd:string
http://purl.uniprot.org/citations/33297941	http://purl.org/dc/terms/identifier	"doi:10.1186/s12861-020-00231-3"xsd:string
http://purl.uniprot.org/citations/33297941	http://purl.uniprot.org/core/author	"Molinari E."xsd:string
http://purl.uniprot.org/citations/33297941	http://purl.uniprot.org/core/author	"Sayer J.A."xsd:string
http://purl.uniprot.org/citations/33297941	http://purl.uniprot.org/core/author	"Barroso-Gil M."xsd:string
http://purl.uniprot.org/citations/33297941	http://purl.uniprot.org/core/author	"Miles C.G."xsd:string
http://purl.uniprot.org/citations/33297941	http://purl.uniprot.org/core/author	"Ramsbottom S.A."xsd:string
http://purl.uniprot.org/citations/33297941	http://purl.uniprot.org/core/author	"Powell L."xsd:string
http://purl.uniprot.org/citations/33297941	http://purl.uniprot.org/core/author	"Clowry G.J."xsd:string
http://purl.uniprot.org/citations/33297941	http://purl.uniprot.org/core/author	"Devlin L.A."xsd:string
http://purl.uniprot.org/citations/33297941	http://purl.uniprot.org/core/date	"2020"xsd:gYear
http://purl.uniprot.org/citations/33297941	http://purl.uniprot.org/core/name	"BMC Dev Biol"xsd:string
http://purl.uniprot.org/citations/33297941	http://purl.uniprot.org/core/pages	"26"xsd:string
http://purl.uniprot.org/citations/33297941	http://purl.uniprot.org/core/title	"Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development."xsd:string
http://purl.uniprot.org/citations/33297941	http://purl.uniprot.org/core/volume	"20"xsd:string
http://purl.uniprot.org/citations/33297941	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/33297941
http://purl.uniprot.org/citations/33297941	http://xmlns.com/foaf/0.1/primaryTopicOf	https://pubmed.ncbi.nlm.nih.gov/33297941
http://purl.uniprot.org/uniprot/#_B4DLH5-mappedCitation-33297941	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/33297941
http://purl.uniprot.org/uniprot/#_P36405-mappedCitation-33297941	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/33297941
http://purl.uniprot.org/uniprot/#_Q8N960-mappedCitation-33297941	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/33297941
http://purl.uniprot.org/uniprot/P36405	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/33297941
http://purl.uniprot.org/uniprot/B4DLH5	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/33297941
http://purl.uniprot.org/uniprot/Q8N960	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/33297941