Results 51 to 60 of about 10,028,553 (168)
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients
Molecular Genetics and Metabolism Reports, 2020 Inherited muscle disorders are caused by pathogenic changes in numerous genes. Herein, we aimed to investigate the etiology of muscle disease in 24 consecutive Greek patients with myopathy suspected to be genetic in origin, based on clinical presentation
Ioannis Zaganas +18 more
doaj +1 more source
, 2023 Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness.
Abdul Hanif Khan Yusof Khan (9462833) +12 more
core +1 more source
ClC-1 chloride channels: state-of-the-art research and future challenges
Frontiers in Cellular Neuroscience, 2015 The voltage-dependent ClC-1 chloride channel belongs to the CLC channel/transporter family. It is a homodimer comprising two individual pores which can operate independently or simultaneously according to two gating modes, the fast and the slow gate of ...
Paola eImbrici +5 more
doaj +1 more source
Frontiers in Neurology, 2020 The voltage-dependent ClC-1 chloride channel, whose open probability increases with membrane potential depolarization, belongs to the superfamily of CLC channels/transporters. ClC-1 is almost exclusively expressed in skeletal muscles and is essential for
Chung-Jiuan Jeng +10 more
doaj +1 more source
Association of the CCR5 gene with juvenile idiopathic arthritis [PDF]
, 2010 The CC chemokine receptor 5 (CCR5) has been shown to be important in the recruitment of T-helper cells to the synovium, where they accumulate, drive the inflammatory process and the consequent synovitis and joint destruction.
Martin, P. +22 more
core +1 more source
Advancing Precision Nutrition Through Multimodal Data and Artificial Intelligence
Advanced Science, Volume 13, Issue 17, 23 March 2026.Individual responses to food vary dramatically, challenging traditional dietary advice. This review explores how the unique genetic makeup, gut microbiome, and brain activity shape host metabolic health. We examine how artificial intelligence integrates these multimodal data to predict individualized dietary needs, moving beyond one‐size‐fits‐all ...
Yuanqing Fu +5 more
wiley +1 more source
Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia
Biomedicines, 2020 Episodic Ataxias (EAs) are a small group (EA1–EA8) of complex neurological conditions that manifest as incidents of poor balance and coordination. Diagnostic testing cannot always find causative variants for the phenotype, however, and this along with ...
Neven Maksemous +4 more
doaj +1 more source
Geriatrics, 2021 Dementia has an enormous impact on medical and financial resources in aging societies like Japan. Diagnosis of dementia can be made by physical and mental examinations, imaging tests, and findings of high abnormal proteins in cerebrospinal fluids.
Atsushi Hori +7 more
doaj +1 more source
Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita
, 2010 Myotonia congenita is a nondystrophic muscle disorder characterized by muscle stiffness and muscle hypertrophy. The disorder can be inherited in an autosomal-dominant (Thomsen disease) or autosomal-recessive (Becker disease) manner.
Sangiuolo, F +5 more
core +1 more source