Impressive story of TUBB4B variant-specific phenotypes highlighting its non-redundant function in cilia. Very thrilled to have contributed to this study led by @Mill_lab
Huge congrats to Volker, @anatopf and the team @jwmdrc@UniofNewcastle for work published today in @NatureGenetics revealing SRPK3/TTN digenic inheritance as a new cause of myopathy. Thanks for allowing us to contribute to this fantastic work! ππ₯
Very thrilled to see our latest paper out! We are elucidating the impact of a pathogenic IFT74 exon 2 deletion causing unique combined primary and motile ciliopathy phenotype with interesting transcriptional upregulation and defective protein interactions consequences.
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations https://t.co/NHHcGDqYbr