Results 181 to 190 of about 6,731,159 (297)

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang   +16 more
wiley   +1 more source

Significance of radiographic temporomandibular degenerative joint disease findings. [PDF]

open access: yesSemin Orthod
Wadhwa S   +5 more
europepmc   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert   +4 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

The Role of Cashew (Anacardium occidentale L.) Nuts on an Experimental Model of Painful Degenerative Joint Disease. [PDF]

open access: yesAntioxidants (Basel), 2020
Fusco R   +11 more
europepmc   +1 more source

Histological analysis of the spatio‐temporal development of porcine knee cartilage in embryonic and early postnatal stages

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study dynamically charts the developmental process of the knee joint cartilage from the embryonic stage through to postnatal life, revealing key developmental events including the origin of knee joint development, chondrification, primary ossification, secondary ossification, formation of the cartilage cancal, and formation of the growth plate. It
Yan Nie   +9 more
wiley   +1 more source

Cleavage of Cartilage Oligomeric Matrix Protein (COMP) by ADAMTS4 generates a neoepitope associated with osteoarthritis and other forms of degenerative joint disease. [PDF]

open access: yesMatrix Biol
de Groot R   +14 more
europepmc   +1 more source

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