ALLMedicine™ Alström Syndrome Center
Research & Reviews 60 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8353411
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...
https://doi.org/10.1213/XAA.0000000000001503
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...
https://doi.org/10.1152/ajpcell.00020.2021
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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016283
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 ...
https://doi.org/10.1007/s12020-021-02643-y 10.1002/(sici)1096-8628(19971212)73:23.0.co;2-y 10.1038/ng867 10.1038/ng874 10.1038/sj.ejhg.5201933 10.1002/humu.22796 10.1002/humu.23233 10.1186/s13023-020-01468-8 10.1002/humu.20577 10.1001/archinte.165.6.675 10.2174/138920211795677912 10.2337/diabetes.54.5.1581 10.1371/journal.pgen.0030008 10.1091/mbc.E10-03-0246 10.1056/NEJMra1010172 10.1038/s41556-020-0566-0 10.1242/jcs.130344 10.1186/s12864-016-2679-1 10.1371/journal.pone.0019081 10.2147/AGG.S74598 10.1016/j.cmet.2014.11.019 10.1371/journal.pone.0109540 10.1093/hmg/ddi235 10.1210/me.2005-0494 10.1093/hmg/ddv447 10.1093/hmg/ddz053 10.1371/journal.pone.0037925 10.1074/jbc.M801750200 10.1002/dneu.22031 10.1042/CS20160469 10.1093/nar/gkl651 10.1210/jc.2018-00496 10.1111/j.1399-5448.2011.00789.x 10.1210/jc.2005-2633 10.1111/j.1399-5448.2010.00698.x 10.1016/S0161-6420(98)97033-6 10.1111/liv.13163 10.1111/j.1365-2265.2004.01952.x 10.1186/s13023-015-0366-y 10.1038/ejhg.2011.168 10.1002/ajmg.a.32730 10.1210/jc.2015-1577 10.1016/j.jhep.2020.02.006 10.1097/MOL.0b013e32832dd51a 10.1186/s12902-018-0315-6 10.1016/j.ajpath.2018.01.009 10.1016/j.molmed.2018.12.002 10.1007/s00467-007-0435-0 10.1038/ejhg.2012.115 10.3389/fped.2018.00023 10.1210/clinem/dgaa551
Endocrine Dassie F, Favaretto F et. al.
Feb 11th, 2021 - Alström syndrome (ALMS) is a monogenic ultra-rare disorder with a prevalence of one per million inhabitants caused by pathogenic variants of ALMS1 gene. ALMS1 is located on chromosome 2p13, spans 23 exons and encodes a predicted 461.2-kDa protein ...
