The FASEB Journal, 2020 Inactivating mutations in the ALMS1 gene in humans cause early onset obesity and metabolic syndrome. Deletion of ALMS1 in rodents induces early onset obesity and insulin resistance on normal chow. The mechanisms by which ALMS1 cause obesity are not clear but likely involve the development
Victoria C. Ortiz +3 more
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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. [PDF]
PLoS ONE, 2014 Dysregulation of signaling pathways in adipose tissue leading to insulin resistance can contribute to the development of obesity-related metabolic disorders.
Francesca Favaretto +7 more
doaj +1 more source
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
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EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome [PDF]
, 2016 Background: Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion.
Aymé, Ségolène +13 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
doaj +1 more source
The molecular basis of human retinal and vitreoretinal diseases [PDF]
, 2010 During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W +2 more
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Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population [PDF]
, 2018 Genome-wide association studies (GWAS) have identified dozens of common genetic variants associated with risk of colorectal cancer (CRC). However, the majority of CRC heritability remains unclear.
A Forsberg +66 more
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Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome [PDF]
Eye, 2008 To report a novel mutation of ALMS1 in a Chinese family with Alström syndrome.Observational case report and results of DNA analysis.A family including one patient and four unaffected relatives was examined clinically. One hundred normal Chinese individuals served as control subjects.
L, Liu, B, Dong, X, Chen, J, Li, Y, Li
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Deficiency of the purinergic receptor 2X7 attenuates nonalcoholic steatohepatitis induced by high-fat diet. possible role of the NLRP3 Inflammasome [PDF]
, 2017 Molecular mechanisms driving transition from simple steatosis to nonalcoholic steatohepatitis (NASH), a critical step in the progression of nonalcoholic fatty liver disease (NAFLD) to cirrhosis, are poorly defined. This study aimed at investigating the
Blasetti Fantauzzi, Claudia +6 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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