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ALLMedicine™ Alström Syndrome Center

Research & Reviews  60 results

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogen...
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...

Anesthetic Considerations in Alström Syndrome: A Case Report.
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...

Impaired Ca2+ signaling due to hepatic steatosis mediates hepatic insulin resistance in...
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...

alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants.
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 ...

Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, t...
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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 ...

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