Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes [PDF]
Human Molecular Genetics, 2018 SCIENTIFIC ABSTRACTAlström syndrome is an autosomal recessive obesity ciliopathy caused by loss-of-function mutations in theALMS1gene. In addition to multi-organ dysfunction, such as cardiomyopathy, retinal degeneration, and renal dysfunction, the disorder is characterized by high rates of obesity, insulin resistance and early onset type 2 diabetes ...
Jessica E. Nesmith +11 more
openaire +4 more sources
Phenoage and longitudinal changes on transthoracic echocardiography in Alström Syndrome:A disease of accelerated ageing? [PDF]
, 2023 Alström syndrome (AS) is an ultra-rare disorder characterised by early-onset multi-organ dysfunction, such as insulin resistance, obesity, dyslipidaemia, and renal and cardiovascular disease.
Baig, Shanat +10 more
core +4 more sources
Unique phenotypic–genotypic correlation in Saudi patients with ALMS1 mutations
Saudi Journal of Ophthalmology, 2023 Abstract Mutations in the ALMS1 gene have been linked to isolated inherited retinal dystrophy or Alström syndrome. This report illustrates the unique pattern of ALMS1-associated diseases in a set of three simplex Saudi patients originating from unrelated consanguineous families.
openaire +1 more source
Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1
Gene, 2010 Mutations in the human gene ALMS1 cause Alström syndrome, a disorder characterised by neurosensory degeneration, metabolic defects and cardiomyopathy. ALMS1 encodes a centrosomal protein implicated in the assembly and maintenance of primary cilia. Expression of ALMS1 varies between tissues and recent data suggest that its transcription is modulated ...
Hanley, Neil +8 more
openaire +4 more sources
Alström Syndrome: Genetics and Clinical Overview [PDF]
, 2011 Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood ...
Collin, Gayle B +3 more
core +2 more sources
HCM‐associated ALMS1 variant: Allele drop‐out and frequency in Italian Sphynx cats
Animal Genetics, 2023 AbstractHypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy in domestic cats, and some inherited variants are available for genetic testing. A variant of the Alstrom syndrome protein 1 gene (ALMS1) was recently reported to be associated with HCM in the Sphynx cat breed (A3: g.92439157G>C).
M. E. TURBA +4 more
openaire +4 more sources
Alstrom syndrome (OMIM 203800): a case report and literature review [PDF]
, 2007 Background Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss.
Black, Graeme +6 more
core +3 more sources
Clusters of Adaptive Evolution in the Human Genome [PDF]
, 2011 Considerable work has been devoted to identifying regions of the human genome that have been subjected to recent positive selection. Although detailed follow-up studies of putatively selected regions are critical for a deeper understanding of human ...
Akey, Joshua M. +4 more
core +2 more sources
Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation [PDF]
, 2020 Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however ...
Dollfus, Helene +9 more
core +2 more sources
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. [PDF]
, 2016 Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity.
Andréasson, S. +26 more
core +2 more sources