Results 131 to 140 of about 6,327 (242)
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1268-1275, June 2026.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 +10 more
wiley +1 more source
Mapping cross‐domain drivers of Alzheimer's disease risk through integrated network analysis
Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.Abstract INTRODUCTION Alzheimer's disease (AD) is a complex neurodegenerative disorder with numerous known risk factors. Identification of which genetic factors are causal drivers is difficult due to the long disease prodrome in an inaccessible organ.
Gregory A Cary +10 more
wiley +1 more source
Cancer Reports, Volume 9, Issue 6, June 2026.ABSTRACT Background The recent fifth edition of World Health Organization and International Consensus Classification in 2022 recognized TP53‐mutated myelodysplastic neoplasms (MDS) as a distinct entity requiring multi‐hit classification. Literatures indicate that TP53 variant alle frequency (VAF) correlates with clinical outcomes.
Yanming Cheng +7 more
wiley +1 more source
Clinical &Translational Immunology, Volume 15, Issue 6, 2026.Single‐cell and paired V(D)J profiling show that paediatric adenoid hypertrophy features expanded proliferative germinal‐centre B cells with impaired maturation. Abstract Objectives To characterise the immune cellular landscape and paired B‐cell and T‐cell receptor repertoires of hypertrophic adenoids in children with obstructive sleep apnoea.
Chao Wang +6 more
wiley +1 more source
Disruption of Minor Intron Splicing by Disease-associated Mutations in U12 snRNA
, 2023 In eukaryotic gene expression, the removal of introns from pre-mRNA is an essential function carried out by spliceosomes. Human cells have two distinct spliceosomes: U2-dependent and U12-dependent.
Jancik, Kyra
core
Clinical and Translational Medicine, Volume 16, Issue 6, June 2026.N‐acetyltransferase 10 (NAT10) catalyses N4‐acetylcytidine (ac4C) modification of PML pre‐mRNA, shifting splicing from the senescence‐promoting PML‐FL to the senescence‐inhibiting PML‐S isoform via SRSF1. This rejuvenates adipose‐derived stem cells (ADSCs) by reducing senescence markers and senescence‐associated secretory phenotype (SASP), thereby ...
Wuhan Wei +9 more
wiley +1 more source
Architecture of the U6 snRNP reveals specific recognition of 3′-end processed U6 snRNA
, 2018 The spliceosome removes introns from precursor messenger RNA (pre-mRNA) to produce mature mRNA. Prior to catalysis, spliceosomes are assembled de novo onto pre-mRNA substrates.
Eric J. Montemayor +5 more
core +1 more source
The Journal of Pathology, Volume 269, Issue 2, Page 222-231, June 2026.Abstract MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non‐syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice region remain difficult to interpret and are often classified as variants of uncertain ...
Tao Shi +5 more
wiley +1 more source