Results 71 to 80 of about 1,783 (168)

Table2_Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity.xlsx

, 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

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

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

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 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

Limited Utility of Existing Hearing Loss Panels in the Assessment of Early‐Onset, Bilateral Meniere's Disease

OTO Open, Volume 9, Issue 4, October-December 2025.
Abstract Objective While the etiology of Meniere's disease (MD) is likely multifactorial, genetics are thought to play a role. Several previous studies have yielded inconclusive results, potentially due to phenotypic uncertainty and variable diagnostic criteria.
Keshav V. Shah, Christian Jung, Daniel Talian, Sherrie Davis, Douglas J. Epstein, Michael J. Ruckenstein, Tiffany P. Hwa   +6 more
wiley   +1 more source

Alström’s Syndrome, Leber’s Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis

Case Reports in Ophthalmological Medicine, 2023
A case of a patient with the Alström syndrome (AS) that was misdiagnosed as Leber’s hereditary optic neuropathy or retinitis pigmentosa for 13 years is presented. AS is a rare genetic disorder caused by mutations in the ALMS1 gene.
Palaiologos Alexopoulos, Chrysanthos Symeonidis, Tryfon Rotsos   +2 more
doaj   +1 more source

The Alstrom Syndrome Protein, ALMS1, Interacts with alpha-Actinin and Components of the Endosome Recycling Pathway [PDF]

, 2012
Alström syndrome (ALMS) is a progressive multi-systemic disorder characterized by cone-rod dystrophy, sensorineural hearing loss, childhood obesity, insulin resistance and cardiac, renal, and hepatic dysfunction. The gene responsible for Alström syndrome,
Naggert, JK, Collin, GB, Maffei, P, Jagger, DJ, Milan, G, Marshall, JD, King, BL   +6 more
core  

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, Volume 26, Issue 9, September 2025.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria

, 2014
We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued.
Brosnahan, Donal, Casey, Jillian, McGettigan, Paul A., et al.   +3 more
core   +2 more sources