The data were collected from Chinese outward foreign direct investment (OFD1
is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
This case presents a six-year-old Chinese boy with RP who had an episode of IDON and was detected with a mutation in oral-facial-digital syndrome 1 (OFD1) gene.
Targeted next-generation sequencing revealed a homozygous p.G985S mutation (c.G2953A) in OFD1 gene, with X-linked recessive inheritance.
The targeted sequencing revealed a homozygous p.G985S mutation in OFD1 gene with X-linked patterns.
When JS is caused by mutations in the OFD1
gene on the X chromosome, it is inherited in an X-linked recessive manner .
Tang and collaborators show that the centriolar satellite protein oral-facial-digital syndrome 1 (OFD1) coimmunoprecipitates with LC3.
Moreover, in whole islets, depletion of two different basal body proteins, OFD1 and BBS4, which lead to PC loss  and PC dysfunction, respectively , decreases the first phase of insulin secretion, which is one of the earliest anomalies present in patients susceptible to type 2 diabetes [89, 90].
show that ciliogenesis is induced in conditions of serum starvation through autophagy-mediated degradation of the protein oral-facial-digital syndrome 1 (OFD1).
Briisselbach, "Inhibition ofD1
, D2, and A cyclin expression in HL-60 cells by the lipid peroxydation product 4-hydroxynonenal," Free Radical Biology and Medicine, vol.
is mutated in X- linked Joubert syndrome and interacts with LCA5-encoded lebercilin.