Kidney Abnormalities in Alms1 Mutant Mice [PDF]
, 2013 (A) H&E-stained kidney sections of a 6-mo-old Alms1L2131X/L2131X mouse showing dilated cortex tubules compared with an age-matched wild-type control. Lack of kidney cilia is observed in some tubules in the cortex of Alms1L2131X/L2131X kidney, whereas ...
Guochun Li (273973) +8 more
core +1 more source
High Prevalence Mutations in ALMS1 in Spanish Alström Patients [PDF]
, 2020 Abstract Background:Alström syndrome (ALMS) is a rare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes.
Brais Bea Mascato +6 more
openaire +1 more source
Suppression of Alms1 Expression Alters Primary Cilium Formation in Kidney Epithelial Cells [PDF]
, 2013 (A) Elongated cilia, visualized with staining of acetylated tubulin (green), form normally in mIMCD3 cells after mock-transfection, transfection with a negative control siRNA, or transfection with two inactive siRNAs directed against Alms1 (Alms1c and ...
Guochun Li (273973) +8 more
core +1 more source
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
doaj +1 more source
ALMS1 interacts with α-actinin in mammalian cells. [PDF]
, 2013 (A–D) Co-localization of α-actinin (A) and ALMS1-C (B) in MDCK cells. Both proteins are expressed within cytoplasmic dense bodies. Antibody overlay and orthogonal projection are shown in C & D, respectively. Scale bar = 5 µm.
Jan D. Marshall (223480) +6 more
core +1 more source
Limited Utility of Existing Hearing Loss Panels in the Assessment of Early-Onset, Bilateral Meniere's Disease. [PDF]
OTO OpenAbstract Objective While the etiology of Meniere's disease (MD) is likely multifactorial, genetics are thought to play a role. Several previous studies have yielded inconclusive results, potentially due to phenotypic uncertainty and variable diagnostic criteria.
Shah KV +6 more
europepmc +2 more sources
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
Charakterisierung von ALMS1 (Alstrom syndrome 1)-Transkripten in Hodgkin-Lymphom-Zellen [PDF]
, 2017 Das ALMS1 (Alstrom syndrome 1)-Gen zählt zu den größten bekannten krankheitsassoziierten Genen des menschlichen Genoms und ist an Zellzykluskontrolle, Ziliogenese, Recycling von Endosomen und intrazellulären Transportmechanismen beteiligt.
Braune, Katarina
core +1 more source
ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits [PDF]
Journal of Molecular Medicine, 2018 Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. Elucidating the function of the mutated gene, ALMS1, is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms ...
openaire +4 more sources
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