{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10"],"submitter":["Walczak-Sztulpa J"],"pubmed_abstract":["<b>Background:</b> Cranioectodermal dysplasia (CED) is a skeletal autosomal recessive ciliopathy. The characteristic clinical features of CED are facial dysmorphisms, short limbs, narrow thorax, brachydactyly, ectodermal abnormalities, and renal insufficiency. Thus far, variants in six genes are known to be associated with this disorder: <i>WDR35</i>, <i>IFT122</i>, <i>IFT140</i>, <i>IFT144</i>, <i>IFT52</i>, and <i>IFT43</i>. <b>Objective:</b> The goal of this study was to perform cilium phenotyping in human urine-derived renal epithelial cells (hURECs) from a CED patient diagnosed with second-stage chronic kidney disease (CKD) and three unrelated and unaffected pediatric controls. <b>Methods:</b> Genetic analysis by <i>WDR35</i> screening was performed in the affected individual. Cilium "],"journal":["Frontiers in molecular biosciences"],"pagination":["1285790"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10756907"],"repository":["biostudies-literature"],"pubmed_title":["Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with <i>WDR35</i> variants."],"pmcid":["PMC10756907"],"pubmed_authors":["Walczak-Sztulpa J","Materna-Kiryluk A","Latos-Bielenska A","Oud MM","Szaflarski W","Kuszel L","Grenda R","Wawrocka A","Andrusiewicz M","Pietras P","Pawlak M","Lesniczak-Staszak M","Krawczynski MR"],"additional_accession":[]},"is_claimable":false,"name":"Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with <i>WDR35</i> variants.","description":"<b>Background:</b> Cranioectodermal dysplasia (CED) is a skeletal autosomal recessive ciliopathy. The characteristic clinical features of CED are facial dysmorphisms, short limbs, narrow thorax, brachydactyly, ectodermal abnormalities, and renal insufficiency. Thus far, variants in six genes are known to be associated with this disorder: <i>WDR35</i>, <i>IFT122</i>, <i>IFT140</i>, <i>IFT144</i>, <i>IFT52</i>, and <i>IFT43</i>. <b>Objective:</b> The goal of this study was to perform cilium phenotyping in human urine-derived renal epithelial cells (hURECs) from a CED patient diagnosed with second-stage chronic kidney disease (CKD) and three unrelated and unaffected pediatric controls. <b>Methods:</b> Genetic analysis by <i>WDR35</i> screening was performed in the affected individual. Cilium ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2026-06-26T03:16:32.811Z","creation":"2024-11-20T22:54:51.263Z"},"accession":"S-EPMC10756907","cross_references":{"pubmed":["38161384"],"doi":["10.3389/fmolb.2023.1285790"]}}