Results 121 to 130 of about 138,421 (254)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Unveiling the Uncommon: A Rare IgE-Mediated Presentation of Multiple Drug Hypersensitivity Syndrome. [PDF]

Cureus
Soares AV, Mota D, Brandão Abreu D, Dias-Castro E, Carneiro-Leão L.   +4 more
europepmc   +1 more source

Transgenic murine models for the study of drug hypersensitivity reactions linked to HLA-I molecules. [PDF]

Curr Opin Allergy Clin Immunol, 2023
Puig M, Norcross MA.
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Comprehensive assessment of allergic manifestations including drug hypersensitivity in adult patients with inborn errors of immunity. [PDF]

Allergy Asthma Proc
Korkmaz P, Toprak ID, Demir S, Yegit OO, Kahveci N, Hormet Igde M, Celik Kamaci S, Aslan AF, Atasever MD, Eyice Karabacak D, Sezgin ME, Guzel SE, Kaya E, Erden B, Kilinc Z, Imren Aksit IG, Bolek L, Unal D, Gelincik A.   +18 more
europepmc   +1 more source

Recognizing Drug Hypersensitivity in Pigmented Skin. [PDF]

Immunol Allergy Clin North Am, 2022
Lehloenya RJ, Phillips EJ, Pasieka HB, Peter J.   +3 more
europepmc   +1 more source

Highly purified cannabidiol (CBD) in CDKL5 deficiency disorder (CDD): Open‐label prospective study

Epilepsia Open, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is an early‐onset developmental and epileptic encephalopathy characterized by frequent drug‐resistant seizures, cerebral visual impairment, motor dysfunction, and sleep and gastrointestinal disturbances.
Marco Perulli, Alessia De Gioia, Federica Ruggiero, Federica Ascione, Chiara Porto, Elisa Musto, Valentina Massaroni, Maria Picilli, Maria Luigia Gambardella, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Domenica Immacolata Battaglia   +12 more
wiley   +1 more source

Drug hypersensitivity reactions in children in clinical practice: A WAO Statement. [PDF]

World Allergy Organ J
Steering Committee Authors, Berges-Gimeno MP, Alvarez-Cuesta E, Atanaskovic-Markovic M, Attanassi M, Caffareli C, Caubet JC, du Toit G, Guzman-Melendez A, Kuyucu S, Madrigal-Burgaleta R, Mayorga L, Powell E, Ramien M, Gomes ER, Mori F, White AA, Ansotegui IJ, Review Panel Authors, Vivolo Aun M, Barbaud A, Bavbek S, Bernal-Rubio L, Brockow K, Bustamante L, Chang YS, Chiaverini Ensina LF, Cuesta-Herranz J, Fernandes BN, Garvey LH, Giavina-Bianchi P, Kidon MI, Alvarez ML, Makowska JS, Marinho S, Mendoza-Hernández DA, Pagani M, Pino VP, Parisi CAS, Park HS, Peter J, Phillips EJ, Risma K, Solano-Solares E, Tanno LK, Valluzzi RL, Vazquez-Revuelta P, Watts TJ, Yamaguchi M.   +48 more
europepmc   +1 more source

Desensitization for the prevention of drug hypersensitivity reactions. [PDF]

Korean J Intern Med, 2022
Kang SY, Seo J, Kang HR.
europepmc   +1 more source

Buck Wheat: Nutritional, Bioactive Characteristics, Health Benefits, and Side Effects

Future Postharvest and Food, EarlyView.
ABSTRACT Micronutrient deficits have resulted from an over‐reliance on a small number of cereal crops for food security. The agricultural sector faces severe sustainability issues due to the rapid growth of the world's population and sudden climatic changes.
Momina Farooq, Sajad Ahmad Mir, Zahida Naseem   +2 more
wiley   +1 more source