Intraflagellar transport (IFT) is a microtubule-based system that supports the assembly and
maintenance of cilia. The dysfunction of IFT leads to ciliopathies of variable severity. Two of …

Alström syndrome (ALMS) is a very rare autosomal-recessive disorder, causing a broad range
of clinical defects most notably retinal degeneration, type 2 diabetes, and truncal obesity. …

The correct intraflagellar transport (IFT) assembly at the ciliary base and the IFT turnaround
at the ciliary tip are key for the IFT to perform its function, but we still have poor understanding …

Crumbs homolog 1 (CRB1) is one of the key genes linked to retinitis pigmentosa and Leber
congenital amaurosis, which are characterized by a high clinical heterogeneity. The Crumbs …

The mechanisms underlying recessive Mendelian diseases and the interplay between
genotype and phenotype still need to be better understood. It is therefore necessary to …

The term “ciliopathy” refers to a group of over 35 rare disorders characterized by defective
cilia and many overlapping clinical features, such as hydrocephalus, cerebellar vermis …

… Auf der anderen Seite wandte er sich unter dem Einfluss seiner zweiten Frau, Franziska von
Hohenheim, ab etwa 1770 mehr und mehr der Förderung von Kultur und vor allem Bildung …

Cilia, small antennae, can be found on nearly every cell in the human body and are important
for human health and vision. Defects in cilia can lead to a variety of diseases, such as the …

… von Woerz … Woerz, Zum Capitel „Achsendrehuiig des Uterus”. der Normalform abweicht,
noch durch grössere oder geringere Teile … Woerz, Zum Capitβl „Ach.sendrehung des Uterus”. …