Results 81 to 90 of about 6,753,476 (214)
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients
Genes, 2021 Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and ...
Brais Bea-Mascato +7 more
semanticscholar +1 more source
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 +2 more
doaj +1 more source
Whole-exome analysis in osteosarcoma to identify a personalized therapy [PDF]
, 2017 Osteosarcoma is the most common pediatric primary non-hematopoietic bone tumor. Survival of these young patients is related to the response to chemotherapy and development of metastases.
Aretini, Paolo +13 more
core +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
Cellular modelling of Alström syndrome in human primary dermal fibroblasts and derived cells [PDF]
, 2012 RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'.
Barrett, TG +4 more
core +1 more source
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 +11 more
wiley +1 more source
, 2016 Non-alcoholic fatty liver (steatosis) and steatohepatitis [non-alcoholic steatohepatitis (NASH)] are hepatic complications of the metabolic syndrome.
Español-Suñer, Regina +9 more
core +1 more source
Evaluation of Genetic Causes of Cardiomyopathy in Childhood [PDF]
, 2015 Cardiomyopathy frequently has a genetic basis. In adults, mutations in genes encoding components of the sarcomere, cytoskeleton, or desmosome are frequent genetic causes of cardiomyopathy.
Ware, Stephanie M.
core +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 +5 more
wiley +1 more source
Release of VEGF from dental implant improves osteogenetic process: Preliminary in vitro tests [PDF]
, 2017 INTRODUCTION: During osseointegration process, the presence of an inflammatory event could negatively influence the proper osteogenetic ability of the implant surface.
Ferroni, Letizia +5 more
core +2 more sources