Bioinformatic analysis identified OFD1 as the top-ranked cilium-associated gene (fold-change ≥ 2.5, p < 0.01) among differentially expressed genes in tumor, stromal, and normal tissues. We ...

Methods We developed a reverse phenotyping strategy to identify 100K participants with pathogenic variants in nine prioritised disease genes (BBS1, BBS10, ALMS1, OFD1, DYNC2H1, WDR34, NPHP1, TMEM67, ...

For example, there is no experimental evidence to support the conclusion that myogenic progenitors mis-differentiated into brown adipocytes in Ofd1 conditional knockout mice. This data must be ...

Rare cases of Joubert syndrome are inherited in an X-linked recessive pattern (such as JSRD caused by mutation of OFD1 gene). The causative gene is located on the X chromosome in those cases ...

Oral-Facial-Digital type I syndrome (OFDI), a ciliopathy disorder caused by mutations of OFD1 gene, is characterized by upregulation of the autophagy pathway. Mechanistically, evidence indicates that ...

Here, we identified and characterised a myosin VI ubiquitous interactor, the oral‐facial‐digital syndrome 1 (OFD1) protein, whose mutations cause malformations of the face, oral cavity, digits and ...

We demonstrate that the centrosomal protein OFD1 acts as bona fide autophagy receptor for ATG13 via direct interaction with the Atg8/LC3/GABARAP family of proteins. We also show that patients with ...

Lance speaks in an interview about Hannah, his 14-year-old daughter with oral-facial-digital syndrome type 1. OFD1 is a very rare condition. Hannah spent 23 days in the NICU after she was born. She ...

This study investigates a new role of mammalian TRAPPIII in ciliogenesis. We found a ciliopathy protein, oral-facial-digital syndrome 1 (OFD1), interacting with the TRAPPIII-specific subunits TRAPPC8 ...

MTOR mutations prevented degradation of the OFD1 protein, one of the negative regulators of ciliary formation. As a result, the OFD1 protein was abnormally accumulated in MTOR mutation-carrying ...