ALLMedicine™ Alström Syndrome Center
Research & Reviews 61 results
ENeuro Antonellis PJ, Engle SE et. al.
Sep 19th, 2021 - The hedgehog signaling pathway is best known for its role in developmental patterning of the neural tube and limb bud. More recently, hedgehog signaling has been recognized for its roles in growth of adult tissues and maintenance of progenitor cel...
EBioMedicine Eintracht J, Forsythe E et. al.
Aug 9th, 2021 - Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy and r...
A&A Practice; Aslam MZ, O'Meachair A et. al.
Jul 21st, 2021 - Alström syndrome is a rare genetic condition that affects cardiac, respiratory, endocrine, hepatorenal, gastrointestinal, auditory, ophthalmic, and musculoskeletal systems. This multisystem syndrome poses significant anesthetic challenges, along w...
American Journal of Physiology. Cell Physiology; Ali ES, Girard D et. al.
Jun 10th, 2021 - Ca2+ signaling plays a critical role in the regulation of hepatic metabolism by hormones including insulin. Changes in cytoplasmic Ca2+ regulate synthesis and posttranslational modification of key signaling proteins in the insulin pathways. Emergi...
PloS One; Parkinson L, Stawicki TM
Apr 2nd, 2021 - Multiple cilia-associated genes have been shown to affect hair cells in zebrafish (Danio rerio), including the human deafness gene dcdc2, the radial spoke gene rsph9, and multiple intraflagellar transport (IFT) and transition zone genes. Recently ...