Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
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DOI: 10.1038/s41431-018-0183-6
Abstract: A rare syndrome was first described in 1997 in a 17-year-old male patient presenting with Retinitis pigmentosa, HYpopituitarism, Nephronophthisis and Skeletal dysplasia (RHYNS). In the single reported familial case, two brothers were affected, arguing for… read more here.
Keywords: variants ciliary; ciliary gene; gene tmem67; tmem67 ... See more keywords
Kras and ciliary gene mutations cooperatively lead to pancreatic tumorigenesis only when induced during embryogenesis
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DOI: 10.1038/s41598-025-16682-2
Abstract: Mutations in the Kras oncogene are present in approximately 25% of tumors, while defective primary cilium can either promote or suppress specific cancer types. In the present study, we investigated whether mutations in Kras and… read more here.
Keywords: cooperatively lead; gene mutations; kras ciliary; embryogenesis ... See more keywords
Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development.
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DOI: 10.1172/jci.insight.123337
Abstract: Intronic polymorphisms in the α-ketoglutarate-dependent dioxygenase gene (FTO) that are highly associated with increased body weight have been implicated in the transcriptional control of a nearby ciliary gene, retinitis pigmentosa GTPase regulator-interacting protein-1 like (RPGRIP1L).… read more here.
Keywords: ciliary gene; pomc neurons; rpgrip1l; gene ... See more keywords