Results 191 to 200 of about 3,917,568 (316)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Local administration of mRNA encoding cytokine cocktail confers potent anti-tumor immunity. [PDF]

Front Immunol
Li Z, Hu L, Wang Y, Liu Q, Liu J, Long H, Li Q, Luo L, Peng Y.   +8 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Local administration of epsilon-aminocaproic acid reduces post-operative blood loss from surgery for closed, Sanders III-IV calcaneal fractures. [PDF]

Int Orthop, 2022
Zhong L, Xu Y, Wang Y, Liu Y, Huang Q.
europepmc   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Enhancement of Orthodontic Tooth Movement by Local Administration of Biofunctional Molecules: A Comprehensive Systematic Review. [PDF]

Pharmaceutics
Ciobotaru CD, Feștilă D, Dinte E, Muntean A, Boșca BA, Ionel A, Ilea A.   +6 more
europepmc   +1 more source

Local administration of zoledronic acid prevents traumatic osteonecrosis of the femoral head in rat model. [PDF]

J Orthop Translat, 2021
Zhao J, Yue T, Lu S, Meng H, Lin Q, Ma H, Liu G, Li H, Lu Q, Wang A, Xu W, Feng J, Wan Y, Liao S, Zhou X, Peng J.   +15 more
europepmc   +1 more source

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source

Local administration of lipid-silica nanohybrid-carried forskolin modulates thermogenesis in human adipocytes and impedes weight gain in mice. [PDF]

Adv Funct Mater
Zhang D, Tang L, Hipple T, Mowry CD, Brinker CJ, Brey E, Noureddine A, Porras MAG.   +7 more
europepmc   +1 more source