Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …

Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature
dysplasia or degeneration occurring preferentially in the kidney, retina and cerebellum. Here we …

Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation
and the most common form of syndromic neural tube defect (NTD). To date, several MKS-…

Ciliary dysfunction leads to a broad range of overlapping phenotypes, collectively termed
ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also …

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS
genes have been cloned, they explain only 40–50% of the total mutational load. Here we …

Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized
by progressive retinal degeneration, obesity, cognitive impairment, polydactyly, and kidney …

Structural Variations (SV) are a major source of variability in the human genome that shaped
its actual structure during evolution. Moreover, many human diseases are caused by SV, …

Bardet-Biedl syndrome (BBS) is an inherited ciliopathy generally associated with severe
obesity, but the underlying mechanism remains hypothetical and is generally proposed to be of …

Most targeted gene mutations are recessive and analyses of gene function often focus on
homozygous mutant phenotypes. Here we describe parts of the expression pattern of M-twist …

The maternal gene dorsal encodes a nuclear protein acting as a morphogen that determines
the size and fate of regions along the dorsal-ventral axis of the Drosophila embryo. From …