Top Tweets for #ofd1
40a) The correct answer is #OFD1, a X-linked dominant #ciliopathy where kidney cysts occur in ~40% of cases. See 🔓 https://t.co/9AbRwrIxcA. This is a malformative syndrome is almost constant in OFD1 with characteristic oral anomalies:
Congrats to Nunziana Pezzella @NunzianaPezzel1 & #BrunellaFranco for their review article on the role of #OFD1, a #cilia protein, and the extensive spectrum of #clinical manifestations observed when this protein is mutated, published in @WileyBiomedical
📰https://t.co/JWGmEHtrfS
🔎Do you know someone living with #OralFacialDigitalSyndromeType1 #OFD1 who would like to connect with another family affected by this #raredisease?
Join RareConnect and connect with family today
👉https://t.co/pcF2qyYJNN
#OrofacialDigitalSyndrome #PapillonLeagePsaumeSyndrome
Antonio Feliciello and coworkers @UninaIT identify a #centrosomal complex of TBC1D31, PKA, praja2 E3 linking #GPCR signaling to phosphorylation and degradation of #OFD1 - implications for #cilium morphogenesis and dynamics in development and #ciliopathies
https://t.co/q7gJqHl5Ge
Autophagy protein #ATG13 is a target for selective #autophagy via novel #LC3/#GABARAP adaptor #OFD1 - unexpected feedback/self-regulatory mechanism found by Brunella Franco @MorleoManuela et al @Tigem_Telethon
https://t.co/CpsIg81YKt
Congratulations to @MorleoManuela and Simona Brillante from Franco’s lab for their publication on @embojournal. They discovered a regulation of #autophagosome biogenesis by #OFD1‐mediated selective #autophagy
#TigemScience
Read more here! https://t.co/jhEB00WITW
Six-fingered tiki at Ipona in Puamau valley, Hiva Oa island #tiki #puamau #hivaoa #aranuicruises @aranuiadventure @aranuivacations #polydactyly #ofd1 @aranuicruises
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