Results 71 to 80 of about 1,602 (139)

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

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

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

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

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

Young‐onset type 2 diabetes—Epidemiology, pathophysiology, and management

Journal of Diabetes Investigation, Volume 16, Issue 7, Page 1157-1172, July 2025.
The burden of young‐onset type 2 diabetes is increasing globally, disproportionately affecting non‐White ethnic groups and low‐ and middle‐income countries. Young‐onset type 2 is more heterogeneous regarding the genetic and environmental contributions to its underlying pathophysiology, which poses challenges for glycemic management.
Andrea O.Y. Luk, Hongjiang Wu, Yingnan Fan, Baoqi Fan, Chun Kwan O, Juliana C.N. Chan   +5 more
wiley   +1 more source

Early genetic screening and cardiac intervention in patients with cardiomyopathies in a multidisciplinary clinic

ESC Heart Failure, Volume 12, Issue 3, Page 1942-1955, June 2025.
Abstract Aims Patients with cardiomyopathies are a heterogeneous group of patients who experience high morbidity and mortality. Early cardiac assessment and intervention with access to genetic counselling in a multidisciplinary Cardiomyopathy Clinic may improve outcomes and prevent progression to advanced heart failure.
Chandu Sadasivan, Luke R. Gagnon, Deepan Hazra, Kaiming Wang, Erik Youngson, Jissy Thomas, Anita Y.M. Chan, D. Ian Paterson, Finlay A. McAlister, Tara Dzwiniel, Wayne Tymchak, Susan Christian, Gavin Y. Oudit   +12 more
wiley   +1 more source

Alström syndrome presenting with life-threatening variceal bleeding in an adolescent: the youngest reported case in Türkiye

Gülhane Tıp Dergisi
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by pathogenic variants in the ALMS1 gene on chromosome 2p13, with multisystem involvement including the retina, cochlea, heart, liver, and kidneys.
Birce İzgi Akçay, Selçuk Teke, Yasin Maruf Ergen, İsmihan Merve Tekin, Necati Balamtekin   +4 more
doaj   +1 more source

Case Report: Identification of two novel ALMS1 variants in a patient with a ciliopathy resembling Alström syndrome

Frontiers in Genetics
BackgroundAlström syndrome (AS) is a rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the ALMS1 gene. The condition is characterized by a spectrum of clinical manifestations, including cone-rod dystrophy, sensorineural ...
Chun-Qiong Ran, Mei Yang, Lin Chen, Xun Liu   +3 more
doaj   +1 more source

Infantile Dilated Cardiomyopathy Diagnosed as Alstrom Syndrome in Later Childhood: A Report of Two Siblings

Indian Pediatrics Case Reports
Background: Alstrom syndrome is a rare autosomal recessive multisystem disorder due to a mutation in the ALMS1 gene, characterized by various combinations of dilated cardiomyopathy (DCM), cone-rod dystrophy, hearing loss, childhood obesity, Type 2 ...
Vimalarani Arulselvam, Suad Al Amer, Neale Nicola Kalis   +2 more
doaj   +1 more source