Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

Idiopathic pulmonary fibrosis (IPF) is an incurable complex genetic disorder that is
associated with sequence changes in 7 genes (MUC5B, TERT, TERC, RTEL1, PARN …

Using RNAi screening, proteomics, cell biological and mouse genetics approaches, we
have identified a complex of nine proteins, seven of which are disrupted in human …

Sensenbrenner syndrome/cranioectodermal dysplasia (CED) is an autosomal-recessive
disease that is characterized by craniosynostosis and ectodermal and skeletal …

Ciliopathies comprise a group of complex disorders, with involvement of the majority of
organs and systems. In total,> 180 causal genes have been identified and, in addition to …

Retinitis pigmentosa (RP) is a genetically heterogeneous heritable disease characterized by
apoptotic death of photoreceptor cells. We used exome sequencing to identify a …

Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap
with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises …

Bardet–Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement
and autosomal recessive inheritance. The clinical picture is extremely polymorphic. The …

The Hedgehog signaling pathway is essential for many aspects of normal embryonic
development, including formation and patterning of the neural tube. Absence of the sonic …

Cilia and flagella have essential functions in a wide range of organisms. Cilia assembly is
dynamic during development and different types of cilia are found in multicellular organisms …