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
Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]
, 2017 Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D. +10 more
core +2 more sources
Alstrom syndrome (OMIM 203800): a case report and literature review
Orphanet Journal of Rare Diseases, 2007 Background Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss.
Hegele Robert A +6 more
doaj +1 more source
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
doaj +1 more source
Mapping the sequences of potential guanine quadruplex motifs. [PDF]
, 2011 The knowledge that potential guanine quadruplex sequences (PQs) are non-randomly distributed in relation to genomic features is now well established.
Neidle, S, Todd, AK
core +2 more sources
Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity
Obesity, Volume 34, Issue 2, Page 499-511, February 2026.ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Nathan Faccioli +12 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
The transcription factor Zeb2 regulates development of conventional and plasmacytoid DCs by repressing Id2 [PDF]
, 2016 Plasmacytoid dendritic cells (DCs [pDCs]) develop from pre-pDCs, whereas two lineages of conventional DCs (cDCs; cDC1s and cDC2s) develop from lineage-committed pre-cDCs.
Bachem +64 more
core +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
Derivation of cochlear cells from pathological or isogenic human iPSCs for modeling hereditary hearing loss [PDF]
, 2016 Alström Syndrome (AS) is a human autosomal recessive genetic disorder characterized by numerous clinical symptoms including deafness. AS is caused by mutations in the ALMS1 gene encoding for ALMS1 protein expressed at the basal body and implicated in ...
Czajkowski, Amandine +5 more
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