Results 61 to 70 of about 1,602 (139)

Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in the <i>ALMS1/BBS</i> genes. [PDF]

Comput Struct Biotechnol J
Metabolomic profiling enables the identification of specific biochemical alterations in various diseases, including rare monogenic diabetes and obesity syndromes such as Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS). These disorders are characterized by early-onset obesity, insulin resistance, diabetes mellitus, retinodystrophy and other ...
Zmysłowska-Polakowska E, Mojsak P, Skoczylas S, Sołowiej K, Chmielewska S, Grzybowska-Adamowicz J, Palatynska-Ulatowska A, Lukomska-Szymanska M, Kretowski A, Zmysłowska A, Ciborowski M.   +10 more
europepmc   +4 more sources

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

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

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

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

Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India

Eye and Vision, 2021
Background Leber congenital amaurosis (LCA), primarily characterized by retinal degeneration is the most severe form of inherited retinal dystrophy (IRD) responsible for congenital blindness.
Sriee Viswarubhiny, Rupa Anjanamurthy, Ayyasamy Vanniarajan, Devarajan Bharanidharan, Vijayalakshmi Perumalsamy, Periasamy Sundaresan   +5 more
doaj   +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

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy

Orphanet Journal of Rare Diseases, 2022
Objective Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the syndrome ranging
Savas Dedeoglu, Elif Dede, Funda Oztunc, Asuman Gedikbasi, Gozde Yesil, Reyhan Dedeoglu   +5 more
doaj   +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

The role of an ophthalmologist in the Alström syndrome diagnosis [PDF]

Vojnosanitetski Pregled, 2019
Introduction. The Alström syndrome (AS) is an extremely rare autosomal recessive genetic disorder, affecting fewer than 1: 1,000,000 people globally. It is a single gene disorder due to the mutation of ALMS1 on chromosome 2 (2p13).
Karadžić Jelena, Pantelić Jelica, Kovačević Igor, Trenkić-Božinović Marija   +3 more
doaj   +1 more source