Results 91 to 100 of about 1,912 (196)

Alstrom syndrome: Case report of a rare genetic disease with potentially lethal complications [PDF]

, 2013
Alstrom syndrome (AS) is a rare autosomal recessive genetic disorder characterized by multiorgan dysfunction. We report a 20-year-old obese Saudi male who presented with congestive heart failure.
Khalid, M. Rizwan, Neem, Kashif Bin
core   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line

Stem Cell Research, 2020
To develop a disease model for the human Alström Syndrome (AS), we used the episomal reprogramming system and CRISPR/Cas9 technology to generate an induced pluripotent stem cell (iPSC) line with the compound heterozygous patient mutation (ALMS1 c.3902C > 
Xiaoli Ji, Qingyuan Tang, Chuanqing Tang, Ziyan Wu, Ling Ma, Xiaohong Guo, Guoqiang Cheng, Yuejun Chen, Tong Yang, Man Xiong, Wenhao Zhou   +10 more
doaj   +1 more source

Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
Our study identified mutations in genes in families associated with different eye disorders. We also explored the effect of a novel variant identified in the ALMS1 gene by using patient‐specific cells. Finally, previously published data was compiled to establish the genotype–phenotype relation.
Afeefa Jarral, Rabia Basharat, Sundus Sajid, Kinza Arshad, Imran Ali, Muhammad Ansar   +5 more
wiley   +1 more source

Identification of ACBP as a potential target in ciliopathic obesity through multi-omics network analysis

Nature Communications
Ciliopathies are genetic disorders characterized by defective primary cilia function, with obesity as a clinical manifestation in certain cases, including Alström syndrome, which is caused by ALMS1 mutations.
Yaiza Corral Nieto, Amanda Gabrielly Fernández Pereira, Laura Ventura-San Pedro, Sonia Belén Paredes, Ana Elena Pérez-Cobas, María Perez-Lanzon, Sylvere Durand, Paula Moreno-Cruz, Laura Manrique, Rocío Benítez-Fernández, Héctor Leal Lassalle, Yulia A. Nevzorova, Francisco Javier Cubero, Élida Alechaga, Oscar J. Pozo, Patricia Boya, José Manuel Fuentes, Valentina Sica, Guido Kroemer, José Manuel Bravo-San Pedro   +19 more
doaj   +1 more source

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

Cardiac magnetic resonance imaging in Alström syndrome

Orphanet Journal of Rare Diseases, 2009
Background A case series of the cardiac magnetic resonance imaging findings in seven adult Alström patients. Methods Seven patients from the National Specialist Commissioning Group Centre for Alström Disease, Torbay, England, UK, completed the cardiac ...
Carey Catherine M, Bellenger Nicholas G, Loudon Margaret A, Paisey Richard B   +3 more
doaj   +1 more source

A Review of Alstrom Syndrome

Future Journal of Pharmaceuticals and Health Sciences
Alström disease is a condition of autosomal recessive trait disorders that are characterized. At the same time, cone-rod spinal muscular atrophy, hearing impairment, adolescent upper abdominal overweight, insulin sensitivity but also insulin production, insulin-dependent, hypercholesterolemia, present approximately through sexual maturity, myocardial ...
openaire   +1 more source

Alstrom syndrome: further evidence for linkage to human chromosome 2p13. [PDF]

, 1999
Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus.
Greenberg, J, Naggert, J K, Boerkoel, C F, Weksberg, R, Levin, A V, Michaud, J L, Marshall, J D, Collin, G B, Nishina, P M   +8 more
core  

Evaluation of insulin resistant diabetes mellitus in Alstrom syndrome: a long-term prospective follow-up of three siblings [PDF]

, 2002
Alstrom syndrome is a rare cause of diabetes mellitus. We studied two generations of a Turkish family in whom four members were affected by Alstrom syndrome. The natural course of the syndrome in three sisters was followed for 13 yr.
Karsidag, K, Uysal, V, Karadeniz, S, Yilmaz, MT, Okten, A, Dinccag, N, Gursoy, N, Devrim, S, Ovali, T, Bugra, Z, Satman, I   +10 more
core   +1 more source