The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway. [PDF]
PLoS ONE, 2012 Alström syndrome (ALMS) is a progressive multi-systemic disorder characterized by cone-rod dystrophy, sensorineural hearing loss, childhood obesity, insulin resistance and cardiac, renal, and hepatic dysfunction. The gene responsible for Alström syndrome,
Gayle B Collin +6 more
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Frontiers in Molecular Biosciences, 2022 Background:ALMS1 is a ubiquitous gene associated with Alström syndrome (ALMS). The main symptoms of ALMS affect multiple organs and tissues, generating at last, multi-organic fibrosis in the lungs, kidneys and liver.
Brais Bea-Mascato +7 more
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A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. [PDF]
PLoS Genetics, 2007 Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. Alström syndrome is a rare disorder characterized by early obesity and sensory impairment, symptoms shared with other genetic diseases affecting proteins of ...
Guochun Li +8 more
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Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. [PDF]
PLoS ONE, 2017 The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms.
Katarina Braune +2 more
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MP35-17 NOVEL PATHOGENIC VARIANRTS IN ALMS1 GENE IS ASSICIATED WITH PEYRONIE’S DISEASE AND DEPUYTREN’S DISEASE [PDF]
Journal of Urology, 2021 INTRODUCTION AND OBJECTIVE:Peyronie's disease (PD) is a fibrotic disease of the penis affecting up to 13% of men leading to debilitating penile curvature and inability to have intercourse.
Iakov Efimenko +4 more
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ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis. [PDF]
PLoS ONE, 2011 Alström Syndrome (ALMS) is a rare genetic disorder (483 living cases), characterized by many clinical manifestations, including blindness, obesity, type 2 diabetes and cardiomyopathy.
Elisabetta Zulato +16 more
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Infant Alstrom syndrome diagnosed by a new gene mutation: a case report
Journal of International Medical Research, 2023 Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole-exome sequencing.
Yujiao Ye +4 more
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A child resides within a young adult: The first reported case of Alström syndrome in Bangladesh
Clinical Case Reports, 2022 A 32‐year‐old male case with short stature presented to us with audio‐visual impairment, obesity, impaired glucose tolerance, dyslipidemia, and hypogonadism. The single‐gene genetic analysis revealed an ALMS1 gene mutation.
Mushfiq Newaz Ahmed +6 more
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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
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A very early diagnosis of Alstrӧm syndrome by next generation sequencing
BMC Medical Genetics, 2020 Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insulin ...
Leonardo Gatticchi +12 more
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