Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia
Clinical Genetics, Volume 109, Issue 4, Page 796-802, April 2026.Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong +8 more
wiley +1 more source
DNA methylation as a predictor of pituitary neuroendocrine tumour behaviour: A systematic review
Journal of Neuroendocrinology, Volume 38, Issue 4, April 2026.Abstract Pituitary neuroendocrine tumours (PitNETs) range from slow‐growing to highly aggressive tumours; however, traditional prognostic markers often fail to predict clinical outcomes reliably. DNA methylation has recently emerged as a promising biomarker for assessing tumour behaviour. This systematic review evaluates its predictive value in PitNETs.
Romy van der Groef +3 more
wiley +1 more source
Brain ankyrin. Purification of a 72,000 Mr spectrin-binding domain.
, 1984 Jonathan Q. Davis, Vann Bennett
openalex +1 more source
The Death Domain of Kidney Ankyrin Interacts with Fas and Promotes Fas-Mediated Cell Death in Renal Epithelia [PDF]
, 2004 Marcela Del Río +7 more
openalex +1 more source
Imperatorin Mitigates Rosacea‐Like Inflammation by Modulating the Crosstalk Between JNK1 and STAT1
The FASEB Journal, Volume 40, Issue 5, 15 March 2026.IMP treatment disrupts the interaction between JNK1 and STAT1, thereby attenuating STAT1 activity. This interference subsequently diminishes the phosphorylation and nuclear translocation of STAT1, which ultimately results in a reduced production of inflammatory cytokines and chemokines.
Xiaoxue Wang, Zexin Zhu
wiley +1 more source
Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1)
ChemMedChem, Volume 21, Issue 5, 13 March 2026.DM1 is an RNA gain‐of‐function disease caused by CTG repeat expansion, producing toxic r(CUG)exp RNA that sequesters MBNL1 and impairs splicing. This review covers the field of CUG and CTG ligands identified or rationally designed as DM1 drug candidates, highlighting their molecular design, RNA‐ or DNA‐binding modes, in vitro affinities and ...
Camille Richagneux, Anton Granzhan
wiley +1 more source
Evaluation of a structural polymorphism in the ankyrin repeat and kinase domain containing 1 (ANKK1) gene and the activation of executive attention networks [PDF]
, 2006 John Fossella, Adam E. Green, Jin Fan
openalex +1 more source
Isoform Specificity among Ankyrins [PDF]
Journal of Biological Chemistry, 2004 Peter J. Mohler +8 more
openaire +1 more source
Cheating Death: A Coxiella Effector Prevents Apoptosis
Frontiers in Cellular and Infection Microbiology, 2011 Laura J Broederdorf, Daniel E Voth
doaj +1 more source