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About 390 results

ALLMedicine™ Alström Syndrome Center

Research & Reviews  195 results

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...
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 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...

Very high bone mineral density in a monogenic form of obesity-associated insulin resist...
https://doi.org/10.1016/j.bone.2020.115756
Bone Tahani N, Choudhary S et. al.

Nov 16th, 2020 - Alström syndrome (ALMS) is an ultra-rare metabolic disorder caused by biallelic loss-of-function in the Alms1 gene which encodes a ubiquitously expressed centrosomal protein of the primary cilium. Although ALMS is characterised by several metaboli...

Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resi...
https://doi.org/10.2337/db20-0647
Diabetes Geberhiwot T, Baig S et. al.

Sep 30th, 2020 - Obesity is a major risk factor for insulin resistance (IR) and its attendant complications. The pathogenic mechanisms linking them remain poorly understood, partly due to a lack of intermediary monogenic human phenotypes. Here, we report on a mono...

see more →

Clinicaltrials.gov  195 results

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...
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 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...

Very high bone mineral density in a monogenic form of obesity-associated insulin resist...
https://doi.org/10.1016/j.bone.2020.115756
Bone Tahani N, Choudhary S et. al.

Nov 16th, 2020 - Alström syndrome (ALMS) is an ultra-rare metabolic disorder caused by biallelic loss-of-function in the Alms1 gene which encodes a ubiquitously expressed centrosomal protein of the primary cilium. Although ALMS is characterised by several metaboli...

Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resi...
https://doi.org/10.2337/db20-0647
Diabetes Geberhiwot T, Baig S et. al.

Sep 30th, 2020 - Obesity is a major risk factor for insulin resistance (IR) and its attendant complications. The pathogenic mechanisms linking them remain poorly understood, partly due to a lack of intermediary monogenic human phenotypes. Here, we report on a mono...

see more →