Results 61 to 70 of about 615 (141)
Neuronal cilia and appetite regulation in Alms1 mutant mice [PDF]
, 2018 The foz/foz mouse is a murine model of Alstr{u00F6}m syndrome, a monogenetic disorder characterised in humans by childhood obesity, hearing loss, blindness, hyperinsulinaemia, early-onset type 2 diabetes and liver disease. In 2006, research from the host
Heydet, Deborah
core +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
ALMS1 interacts with α-actinin in mammalian cells.
, 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
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Suppression of Alms1 Expression Alters Primary Cilium Formation in Kidney Epithelial Cells
, 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
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
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
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
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
Clusters of adaptive evolution in the human genome
Frontiers in Genetics, 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 ...
Laura B. Scheinfeldt +4 more
doaj +1 more source