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Alstrom Syndrome: Genetics and Clinical Overview

Current genomics, 2011-05, Vol.12 (3), p.225-235

2011

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GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance

PloS one, 2014-10, Vol.9 (10), p.e109540-e109540

2014

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Mouse models of human ocular disease for translational research

PloS one, 2017-08, Vol.12 (8), p.e0183837-e0183837

2017

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The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway

PloS one, 2012-05, Vol.7 (5), p.e37925-e37925

2012

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Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Cells (Basel, Switzerland), 2020-04, Vol.9 (4), p.931

2020

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Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes

International journal of molecular sciences, 2022-01, Vol.23 (3), p.1615

2022

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Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model

PLoS genetics, 2022-06, Vol.18 (6), p.e1009798

2022

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A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice

International journal of molecular sciences, 2022-10, Vol.23 (19), p.12005

2022

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A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction

International journal of molecular sciences, 2022-02, Vol.23 (4), p.2220

2022

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ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis

PloS one, 2011-04, Vol.6 (4), p.e19081-e19081

2011

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Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731

Molecular biology of the cell, 2010-11, Vol.21 (21), p.3617-3629

2010

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A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e

Frontiers in molecular neuroscience, 2023-01, Vol.15, p.1080136-1080136

2023

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Chromophore supply modulates cone function and survival in retinitis pigmentosa mouse models

Proceedings of the National Academy of Sciences - PNAS, 2023-06, Vol.120 (23), p.e2217885120-e2217885120

2023

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Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.485-488

2011

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Alström Syndrome: Mutation Spectrum of ALMS1

Human mutation, 2015-07, Vol.36 (7), p.660-668

2015

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Current Views on Chr10q26 Contribution to Age-Related Macular Degeneration

Advances in experimental medicine and biology, 2023, Vol.1415, p.27-36

2023

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Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs

PloS one, 2014, Vol.9 (10), p.e110299-e110299

2014

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Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation

Human molecular genetics, 2015-12, Vol.24 (24), p.6958-6974

2015

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Mouse Models of NMNAT1 -Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease

The American journal of pathology, 2016-07, Vol.186 (7), p.1925-1938

2016

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Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1 rd8 mouse model

PLoS genetics, 2022-06, Vol.18 (6), p.e1009798

2022

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Mutations in Alström protein impair terminal differentiation of cardiomyocytes

Nature communications, 2014-03, Vol.5 (1), p.3416-3416, Article 3416

2014

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Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome

Human mutation, 2007-11, Vol.28 (11), p.1114-1123

2007

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A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia

Investigative ophthalmology & visual science, 2015-06, Vol.56 (6), p.3776-3787

2015

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Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis

Investigative ophthalmology & visual science, 2012-02, Vol.53 (2), p.967-974

2012

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Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Nature genetics, 2002-05, Vol.31 (1), p.74-78

2002

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Alstrom Syndrome: Genetics and Clinical Overview

GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance

Mouse models of human ocular disease for translational research

The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes

Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model

A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice

A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction

ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis

Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731

A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e

Chromophore supply modulates cone function and survival in retinitis pigmentosa mouse models

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome

Alström Syndrome: Mutation Spectrum of ALMS1

Current Views on Chr10q26 Contribution to Age-Related Macular Degeneration

Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation

Mouse Models of NMNAT1 -Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease

Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1 rd8 mouse model

Mutations in Alström protein impair terminal differentiation of cardiomyocytes

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome

A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia

Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

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