Results 151 to 160 of about 122,769 (286)
Journal of the European Academy of Dermatology and Venereology, EarlyView.
Risa Fukuda +12 more
wiley +1 more source
Abstract The SCN1A gene is implicated in a broad spectrum of epilepsy phenotypes, ranging from self‐limited genetic epilepsy with febrile seizures plus (GEFS+) to severe developmental and epileptic encephalopathies such as Dravet syndrome (DS). While fenfluramine (FFA) has demonstrated strong efficacy in DS, its role in SCN1A‐related epilepsies beyond ...
Giovanni B. Dell'Isola +12 more
wiley +1 more source
The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi +5 more
wiley +1 more source
Risk of major adverse cardiovascular events in CYP2C19
Mohitosh Biswas +4 more
openalex +1 more source
Patient‐Derived Intestinal Organoids in the Global Cystic Fibrosis Landscape
ABSTRACT Cystic fibrosis (CF) care has advanced rapidly, yet diagnosis and inclusion in patient registries remain severely limited in low‐ and middle‐income countries (LMICs). Barriers include restricted newborn screening, limited availability of sweat chloride testing, and underrepresentation of non‐European CFTR variants in standard panels.
Suzanne Kroes +7 more
wiley +1 more source
Biocarbon Suitability Evaluation for Direct Injection in Blast Furnace Ironmaking
This study examines densified biocarbon for direct injection in blast furnace ironmaking to reduce greenhouse gas (GHG). Enhanced burnout performance, along with favorable reactivity and carbon structure of the combustion residue, supports its suitability for blast furnace injection. Modeling results indicate that up to a 27% reduction in GHG emissions
Xianai Huang +3 more
wiley +1 more source
ABSTRACT Faeces serve as a widely used non‐invasive material in wildlife studies, from which host DNA can be enriched for high‐throughput sequencing. However, the characteristics of faecal DNA sequencing, particularly the relationship between sequencing volume and genotyping accuracy or genomic coverage, have remained unclear.
Jincheng Yang +15 more
wiley +1 more source
Neurotrophic Modulation Restores Motor and Developmental Defects in Zebrafish Models of ints11 Deficiency. [PDF]
Pistocchi A +9 more
europepmc +1 more source

