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• W4385684609 abstract "Ciliopathies are inherited disorders caused by defective cilia. Mutations affecting motile cilia usually cause the chronic muco-obstructive sinopulmonary disease primary ciliary dyskinesia (PCD) and are associated with laterality defects, while a broad spectrum of early developmental as well as degenerative syndromes arise from mutations affecting signalling of primary (non-motile) cilia. Cilia assembly and functioning requires intraflagellar transport of cargos assisted by IFT-B and IFT-A adaptor complexes. Within IFT-B, the N-termini of partner proteins IFT74 and IFT81 govern tubulin transport to build the ciliary microtubular cytoskeleton. We detected a homozygous 3 kb intragenic IFT74 deletion removing the exon 2 initiation codon and 40 N-terminal amino acids in two affected siblings. Both had clinical features of PCD with bronchiectasis, but no laterality defects. They also had retinal dysplasia and abnormal bone growth, with a narrowed thorax and short ribs, shortened long bones and digits and abnormal skull shape. This resembles short-rib thoracic dysplasia, a skeletal ciliopathy previously linked to IFT defects in primary cilia, not motile cilia. Ciliated nasal epithelial cells collected from affected individuals had reduced numbers of shortened motile cilia with disarranged microtubules, some mis-orientation of the basal feet, and disrupted cilia structural and IFT protein distributions. No full length IFT74 was expressed, only truncated forms that were consistent with N-terminal deletion and inframe translation from downstream initiation codons. In affinity purification mass spectrometry, exon 2-deleted IFT74 initiated from the nearest inframe downstream methionine 41 still interacts as part of the IFT-B complex, but only with reduced interaction levels and not with all its usual IFT-B partners. We propose that this is a hypomorphic mutation with some residual protein function retained, that gives rise to a non-lethal primary skeletal ciliopathy combined with defective motile cilia and PCD." @default.
• W4385684609 created "2023-08-10" @default.
• W4385684609 creator A5001440882 @default.
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• W4385684609 date "2023-08-09" @default.
• W4385684609 modified "2023-09-27" @default.
• W4385684609 title "Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by <i>IFT74</i> mutations" @default.
• W4385684609 cites W1927073684 @default.
• W4385684609 cites W1964432969 @default.
• W4385684609 cites W1971688911 @default.
• W4385684609 cites W1982980697 @default.
• W4385684609 cites W1995404168 @default.
• W4385684609 cites W2004293751 @default.
• W4385684609 cites W2011855956 @default.
• W4385684609 cites W2026335052 @default.
• W4385684609 cites W2030939638 @default.
• W4385684609 cites W2032141866 @default.
• W4385684609 cites W2037420113 @default.
• W4385684609 cites W2041770258 @default.
• W4385684609 cites W2046027843 @default.
• W4385684609 cites W2046700572 @default.
• W4385684609 cites W2072417992 @default.
• W4385684609 cites W2091684557 @default.
• W4385684609 cites W2093931104 @default.
• W4385684609 cites W2094055557 @default.
• W4385684609 cites W2094452381 @default.
• W4385684609 cites W2107277218 @default.
• W4385684609 cites W2113520298 @default.
• W4385684609 cites W2113929186 @default.
• W4385684609 cites W2116665359 @default.
• W4385684609 cites W2120728615 @default.
• W4385684609 cites W2125489026 @default.
• W4385684609 cites W2137819114 @default.
• W4385684609 cites W2140688812 @default.
• W4385684609 cites W2166657289 @default.
• W4385684609 cites W2177346644 @default.
• W4385684609 cites W2288714178 @default.
• W4385684609 cites W2348394504 @default.
• W4385684609 cites W2425634453 @default.
• W4385684609 cites W2460049070 @default.
• W4385684609 cites W2463195069 @default.
• W4385684609 cites W2466500085 @default.
• W4385684609 cites W2481923573 @default.
• W4385684609 cites W2491683918 @default.
• W4385684609 cites W2523873064 @default.
• W4385684609 cites W2524643649 @default.
• W4385684609 cites W2549998959 @default.
• W4385684609 cites W2554519038 @default.
• W4385684609 cites W2586067661 @default.
• W4385684609 cites W2606852245 @default.
• W4385684609 cites W2734540391 @default.
• W4385684609 cites W2756875985 @default.
• W4385684609 cites W2772354233 @default.
• W4385684609 cites W2789573919 @default.
• W4385684609 cites W2808504398 @default.
• W4385684609 cites W2883549208 @default.
• W4385684609 cites W2912322880 @default.
• W4385684609 cites W2937166818 @default.
• W4385684609 cites W2965159092 @default.
• W4385684609 cites W2979507561 @default.
• W4385684609 cites W2980561001 @default.
• W4385684609 cites W2982036345 @default.
• W4385684609 cites W2989859078 @default.
• W4385684609 cites W2997318069 @default.
• W4385684609 cites W3006342923 @default.
• W4385684609 cites W3009748717 @default.
• W4385684609 cites W3014844852 @default.
• W4385684609 cites W3032396984 @default.
• W4385684609 cites W3043392690 @default.
• W4385684609 cites W3048672234 @default.
• W4385684609 cites W3109915185 @default.
• W4385684609 cites W3127366107 @default.
• W4385684609 cites W3134699601 @default.
• W4385684609 cites W3138751385 @default.
• W4385684609 cites W3141343891 @default.
• W4385684609 cites W3153841443 @default.
• W4385684609 cites W3172748894 @default.
• W4385684609 cites W3197639899 @default.
• W4385684609 cites W407253126 @default.
• W4385684609 cites W4210698784 @default.
• W4385684609 cites W4210952482 @default.
• W4385684609 cites W4211135382 @default.
• W4385684609 cites W4283783448 @default.
• W4385684609 cites W4294107304 @default.
• W4385684609 cites W4307114462 @default.
• W4385684609 cites W4320169365 @default.
• W4385684609 cites W4360610398 @default.
• W4385684609 cites W4366280060 @default.
• W4385684609 cites W4378800731 @default.
• W4385684609 cites W917998901 @default.
• W4385684609 doi "https://doi.org/10.1093/hmg/ddad132" @default.

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