Background The Th2 immune response in the nasal mucosa of subjects with allergic rhinitis
is mediated by allergen‐specific IgE. Moreover, these subjects show positive responses for …

Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal
features of which include craniosynostosis, polysyndactyly, obesity, and cardiac defects. …

Hedgehog (HH) signalling is involved in the development of numerous embryonic tissues.
In humans, germline mutations in hedgehog pathway components cause congenital …

3MC syndrome has been proposed as a unifying term encompassing the overlapping
Carnevale, Mingarelli, Malpuech and Michels syndromes. These rare autosomal recessive …

Cellular organelles provide opportunities to relate biological mechanisms to disease. Here
we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood …

Human renal adysplasia usually occurs sporadically, and bilateral disease is the most common
cause of childhood end-stage renal failure, a condition that is lethal without intervention …

Primary cilia are cellular appendages important for signal transduction and sensing the
environment. Bardet–Biedl syndrome proteins form a complex that is important for several …

Ureteric contractions propel foetal urine from the kidney to the urinary bladder. Here, we show
that mouse ureteric smooth muscle cell (SMC) precursors express the transcription factor …

Intellectual disability and cerebellar atrophy occur together in a large number of genetic
conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the …

Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder
characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many …