Results 151 to 160 of about 314 (196)
CLRN1 Variants in Müller Cells Cause Mitochondrial Dysfunction in USH3A Retinal Organoids
CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.We generated retinal organoids from a patient with USH3A and performed single‐cell RNA sequencing. CLRN1 was specifically expressed in Müller cells, where its variants led to mitochondrial dysfunction and photoreceptor degeneration. ABSTRACT Background Usher syndrome 3A (USH3A), caused by mutations in the CLRN1 gene, leads to retinitis pigmentosa and ...
Rui Zhang +19 more
wiley +1 more source
PharmVar GeneFocus: CYP1A2—Clinical Impact, Genetic Variation, and Updated Nomenclature
Clinical Pharmacology &Therapeutics, Volume 120, Issue 2, Page 313-323, August 2026.The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP1A2 gene. CYP1A2 plays a crucial role in the biotransformation of several commonly used drugs, including antipsychotics, antidepressants, anxiolytics, and methylxanthines.
Katalin Monostory +13 more
wiley +1 more source
Intestinal epithelial SETD2 maintains gut microbial homeostasis to attenuate colitis
Clinical and Translational Medicine, Volume 16, Issue 8, August 2026.• SETD2 deficiency in intestinal epithelial cells (IECs) drives REG3 lectins overproduction and triggers profound gut microbiota dysbiosis. • SETD2 deficiency increased chromatin accessibility and induced H3K4me3 enrichment at REG3 genes. • Supplementation with healthy‐like gut microbiota significantly ameliorated the exacerbated colitis induced by ...
Jing Feng +12 more
wiley +1 more source
An Italian cartography of VEXAS‐related thrombosis
HemaSphere, Volume 10, Issue 8, August 2026.Abstract Thrombotic events (TEs) occur in up to 40% of patients with vacuoles, E1 enzyme, X‐linked, autoinflammatory, and somatic (VEXAS) syndrome, but data on its clinical‐genomics features and anticoagulation strategies are limited. To gain more insight into this, we conducted a two‐step study evaluating the prevalence and outcome of TE in VEXAS ...
Giorgia Ranucci +42 more
wiley +1 more source
MedComm, Volume 7, Issue 8, August 2026.This study introduces NeoAPP, a computational tool revealing that transcriptional dysregulation generates a dominant reservoir of neoantigens from tumor‐specific transcripts (TSTs) in pancreatic ductal adenocarcinoma (PDAC), far exceeding those of mutational origin.
Jingjing Zhao +14 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.A novel MC4R mutation (c.185A > G) was identified in a 10‐year‐old girl with severe obesity and hyperinsulinemia. Retrospective analysis of 64 pediatric cases revealed that mutation location influences BMI, modulated by underlying disease status, demonstrating that the genotype–phenotype relationship in MC4R‐associated obesity is clinically context ...
Xin Li +4 more
wiley +1 more source
Acta Ophthalmologica, Volume 104, Issue 5, Page e555-e564, August 2026.Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic +10 more
wiley +1 more source
Clinical Genetics, Volume 110, Issue 2, Page 268-269, August 2026.A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic +3 more
wiley +1 more source
Clinical Genetics, Volume 110, Issue 2, Page 210-226, August 2026.The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana +7 more
wiley +1 more source
Genes, Brain and Behavior, Volume 25, Issue 4, August 2026.This study integrated GWAS data for schizophrenia from European (PGC, FinnGen, iPSYCH) and East Asian cohorts with GWAS of chronic pulmonary diseases (COPD, asthma, ILD, pneumonia) and lung function traits, alongside transcriptomic and proteomic datasets (GEO, GTEx, CommonMind, pQTL).
Abudusalamu Ayoufu +6 more
wiley +1 more source