Results 71 to 80 of about 1,999 (178)
Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome
Diagnostics, 2021 Alström syndrome (ALMS) is an ultra-rare monogenic disease characterized by insulin resistance, multi-organ fibrosis, obesity, type 2 diabetes mellitus (T2DM), and hypertriglyceridemia with high and early incidence of non-alcoholic fatty liver disease ...
Silvia Bettini +13 more
doaj +1 more source
European Journal of Clinical Investigation, Volume 56, Issue 2, February 2026.Abstract Introduction While hyperammonemia is traditionally associated with decompensated cirrhosis, emerging evidence suggests that disturbances in nitrogen homeostasis contribute to disease progression in earlier stages of steatohepatitis and fibrosis.
Abdulrahman Ismaiel +3 more
wiley +1 more source
Human Mutation, Volume 2026, Issue 1, 2026.Leber congenital amaurosis (LCA) is caused by mutations in at least 30 genes. Biallelic RD3 loss‐of‐function variants underlie rare LCA12. By whole‐exome sequencing (WES), we identified three apparently unrelated LCA12 patients (P1–3) from Afghanistan.
Monika Gawai +11 more
wiley +1 more source
Table2_Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity.xlsx [PDF]
, 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.
Diana Valverde (579358) +3 more
core +1 more source
Medicine, 2022 Colon adenocarcinoma (COAD) is one of the most serious cancers. It is important to accurately predict prognosis and provide individualized treatment. Evidence suggests that clinicopathological features and immune status of the body are related to the occurrence and development of cancer.
Yuning Lin +3 more
openaire +2 more sources
Metabolomic Signatures of Prediabetes in Mexican Americans: The Role of Genetics and Macronutrients
Advanced Genetics, Volume 6, Issue 4, December 2025.We studied how genes and diet influence metabolites in Mexican Americans. We found new genetic links to 17 blood metabolites and discovered 7 interactions between genetic variants and macronutrients like protein and various types of fat. These findings could help personalize strategies for preventing diabetes based on genetic and dietary factors in ...
Shinhye Chung +8 more
wiley +1 more source
Detection and localization of ALMS1 protein in HL cells. [PDF]
, 2017 A) Flow cytometric analysis of ALMS1 expression in HL cell lines. HL cell lines KM-H2 (red lines) and L-428 (green lines) were stained intracellularly with anti-ALMS1 antibodies (solid lines). Cells stained with secondary antibody alone served as control
Martin S. Staege (281214) +2 more
core +1 more source
Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease [PDF]
, 2022 Peyronie's Disease (PD) is estimated to occur in up to 13% of males and has been associated with Dupuytren's Disease (DD). We identified 3 men with PD/DD and hypothesized that there may be a genetic association between the 2 diseases.
Dullea, Alexandra +6 more
core +1 more source
Six Years of Genetic Diagnosis of Severe Early‐Onset Obesity in a French Cohort
Obesity Science &Practice, Volume 11, Issue 6, December 2025.ABSTRACT Objective Obesity is a multifactorial disease with a strong genetic component. It is imperative to enhance the identification of genetic variations in their early and severe manifestations in order to facilitate the development of personalized therapeutic strategies, informed clinical care, and the facilitation of genetic counseling.
M. Rama +12 more
wiley +1 more source
Stem Cell ResearchWe report on the generation of the human iPSC line (ALMS1-STBG-1) from a patient with Alström syndrome with compound heterozygote pathogenic variants in ALMS1: c.[2822T>A];[4714_4715dup], p.[(Leu941*)];[(Ser1573Thrfs*25)].
Samira Secula +7 more
doaj +1 more source