Results 61 to 70 of about 1,617 (137)

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

Clusters of adaptive evolution in the human genome

Frontiers in Genetics, 2011
Considerable work has been devoted to identifying regions of the human genome that have been subjected to recent positive selection. Although detailed follow-up studies of putatively selected regions are critical for a deeper understanding of human ...
Laura B. Scheinfeldt, Shameek eBiswas, Jennifer eMadeoy, Caitlin F. Connelly, Joshua eAkey   +4 more
doaj   +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

Alström syndrome caused by maternal uniparental disomy

American Journal of Ophthalmology Case Reports, 2023
Purpose: To describe a case of Alström syndrome arising from maternal uniparental disomy. Observations: A 13-month-old boy with poor vision and nystagmus was diagnosed with Alström syndrome based on genetic testing that identified a homozygous pathogenic
Madeline Q.R. Lopour, Lisa A. Schimmenti, Nicole J. Boczek, Hutton M. Kearney, Arlene V. Drack, Michael C. Brodsky   +5 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

ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits [PDF]

Journal of Molecular Medicine, 2018
Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. Elucidating the function of the mutated gene, ALMS1, is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms ...
openaire   +4 more sources

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

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

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

Advanced Science, Volume 12, Issue 29, August 7, 2025.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng, Xuegang Wang, Mingjun Zhong, Jia Geng, Wenjian Li, Kanglu Pei, Jing Wang, Lanchen Wang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +11 more
wiley   +1 more source

ALMS1 deletion in rats causes hyperleptinemia, progressive obesity, and renal damage

The FASEB Journal, 2019
Genome‐wide association studies identified single nucleotide polymorphisms in the Alström syndrome 1 (ALMS1) gene linked to chronic kidney disease (CKD). ALMS1 has also been associated to obesity and insulin resistance. Inactivating mutations in the ALMS1 gene cause Alström syndrome in humans, characterized by early onset obesity, insulin resistance ...
Sumit Monu, Keyona King‐Medina, Ankita Jayakumar, Pablo Ortiz   +3 more
openaire   +1 more source