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About 160 results

ALLMedicine™ Alström Syndrome Center

Research & Reviews  62 results

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 20th, 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 9th, 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 1st, 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 10th, 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 ...

Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum...
https://doi.org/10.1002/ajmg.a.62029
American Journal of Medical Genetics. Part A; Dassie F, Lorusso R et. al.

Jan 7th, 2021 - Alström syndrome (OMIM#203800) is an ultra-rare autosomal recessive monogenic disease presenting pathogenic variants in ALMS1 (chromosome 2p13). It is characterized by early onset of blindness, hearing loss and systemic comorbidities, with delayed...

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Clinicaltrials.gov  2 results

Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity
https://clinicaltrials.gov/ct2/show/NCT03013543

Oct 31st, 2018 - The purpose of the study is to determine the effect of setmelanotide (RM-493) on weight, hunger assessments and other factors in patients with rare genetic disorders of obesity, including POMC deficiency, LepR deficiency, Bardet-Biedl syndrome and...

Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome
https://clinicaltrials.gov/ct2/show/NCT03184584

Apr 9th, 2018 - This is a Phase 2, open-label, single-arm, multi-centre study evaluating the long term safety and tolerability of PBI-4050 in subjects with Alström Syndrome who have completed the end-of-treatment (EoT) visit in a preceding ProMetic-sponsored Alst...

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