Results 201 to 210 of about 4,119,000 (255)

AI-powered Immune Cell Knowledge Graph (ICKG) with granular immune contexts enables immune program interpretation. [PDF]

NPJ Artif Intell
He S, Tan Y, Ye Q, M Gubin M, Dede M, Rafei H, Peng W, Rezvani K, Mohanty V, Chen K.   +9 more
europepmc   +1 more source

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

Maternal and Pediatric Precision in Therapeutic Knowledge Portal (MPRINT-KP): Landscape Analysis of Pharmacology Research in Maternal and Pediatric Patient Populations. [PDF]

Pharmacotherapy
Liu X, Shendre A, Wang L, O'Kane A, Ma H, Chiang CW, Zaidi SS, Aboshady OA, So G, Tillman EM, Kirkpatrick LM, Costantine M, Grannis S, Rogerson CM, Bartlett C, Rahurkar S, Cheng L, Ouyang J, Wei P, Zhu Z, Li S, Huang Y, Wang L, Cao W, Jiang H, Liu J, Oteng SR, Goodwin A, Deypalubos JAF, Zhang S, Bies R, Quinney SK, Li L.   +32 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

Immunopathological signatures in congenital tuberculosis-a case-matched study. [PDF]

Front Immunol
Zhuxiao R, Shandan Z, Chunhui Y, Wenhui M, Fang X, Jie Y.   +5 more
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

molIEreVIS: exploring and interpreting the evidence behind drug repurposing predictions. [PDF]

Front Bioinform
Alnouri A, Hinterreiter A, Steinparz C, Bajraktari L, Burgstaller-Muehlbacher S, Bauer M, Alanis-Lobato G, Streit M.   +7 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

Performance of machine learning algorithms in diffusion tensor imaging of movement disorders: an exploratory meta-analysis. [PDF]

Biomed Eng Online
Fathollahi MA, Khani Y, Bayati H, Zaman S, Mahmoudi A, Vatani Z, Amiri H, Norouzkhani N, Idjadi FZ, Karami S, Naghizadeh M, Jalali Varnamkhasti Z, Soleimani MS, Khosravi F, Golestan AH, Asadi Anar M, Shahba M, Ghaedamini A, Arab Bafrani M.   +18 more
europepmc   +1 more source