Results 61 to 70 of about 1,783 (168)

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

Frontiers in Genetics, 2020
Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however ...
Laura Mauring, Louise Frances Porter, Louise Frances Porter, Valerie Pelletier, Axelle Riehm, Anne-Sophie Leuvrey, Aurélie Gouronc, Fouzia Studer, Corinne Stoetzel, Helene Dollfus, Helene Dollfus, Helene Dollfus, Jean Muller, Jean Muller   +13 more
doaj   +1 more source

DataSheet1_Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity.docx

, 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), Elena Neira-Goyanes (13951662), Antía Iglesias-Rodríguez (13951665), Brais Bea-Mascato (10057654)   +3 more
core   +1 more source

Can ammonia scavenging treat MASLD? Evaluating the evidence for L‐ornithine L‐aspartate—A systematic review

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, Vera Ciornolutchii, Stefan‐Lucian Popa, Dan L. Dumitrascu   +3 more
wiley   +1 more source

Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease

, 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, Efimenko, Iakov, Arora, Himanshu, Griswold, Anthony, Masterson, Thomas, Ramasamy, Ranjith, Firdaus, Fakiha   +6 more
core   +1 more source

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

BMC Ophthalmology, 2019
Background Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes.
Maria F. Shurygina, Maria A. Parker, Catie L. Schlechter, Rui Chen, Yumei Li, Richard G. Weleber, Paul Yang, Mark E. Pennesi   +7 more
doaj   +1 more source

HiFi Long‐Read Whole‐Genome Sequencing Deciphers Large Afghan RD3 Founder Deletion Causing Leber Congenital Amaurosis

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, Ariane Kröll-Hermi, Milan Hiersche, Christian Decker, Johannes Birtel, Denise Yang-Seeger, Anna M. Lentzsch, Christoph Friedburg, Markus N. Preising, Christian Betz, Hanno J. Bolz, Stuart Scott   +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, Charles Evans, Charles F. Burant, Han Chen, Bing Yu, David Aguilar, Eric L. Brown, Craig L. Hanis, Goo Jun   +8 more
wiley   +1 more source

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis

American Journal of Ophthalmology Case Reports, 2020
Purpose: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease.
Tyler Etheridge, Elizabeth R. Kellom, Rachel Sullivan, James N. Ver Hoeve, Melanie A. Schmitt   +4 more
doaj   +1 more source

Additional file 2 of A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat

, 2021
Additional file 2: Supplemental Table 2. Amino Acid Conservation.
Meurs, Kathryn M., Williams, Brian G., DeProspero, Dylan, Friedenberg, Steven G., Malarkey, David E., Ezzell, J. Ashley, Keene, Bruce W., Adin, Darcy B., DeFrancesco, Teresa C., Tou, Sandra   +9 more
openaire   +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, E. Blond, A. Janin, M. Di‐Filippo, C. Cuerq, O. Marmontel, P. A. Rollat‐Farnier, E. Dieterlen, B. Segrestin, M. Nicolino, E. Disse, K. Perge, D. Collin‐Chavagnac   +12 more
wiley   +1 more source