Uncovering Hidden Genetic Contributors to 46,XY Disorders of Sex Development Through Phenotype-Driven Rare Variant Assessment: A Pilot Study. [PDF]
Tang Y +7 more
europepmc +1 more source
This study reveals that fear learning specifically triggers PICK1/DHHC2‐dependent palmitoylation of PSD‐95 in the lateral amygdala. Fear conditioning induces the dissociation of DHHC5 from PSD‐95 and the association of PSD‐95 with DHHC2. DHHC2‐mediated palmitoylation of PSD‐95 is required for synaptic transmission and underlies fear learning–induced ...
Zu‐Cheng Shen +11 more
wiley +1 more source
Gene-Dosage Effect of V89L Variants in Steroid 5α-Reductase Type 2 and Increased Risk of 46, XY Disorders of Sex Development: A Systematic Review and Meta-Analysis. [PDF]
Deeba F +12 more
europepmc +1 more source
Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development. [PDF]
Pan S, Guo S, Liu L, Yang X, Liang H.
europepmc +1 more source
RHINO: An Integrative Multi‐Omics Framework Linking Circadian Physiology to Precision Medicine
RHINO (RHythmic Interacting Network for multi‐Omics) is an integrative framework that maps circadian regulation across diverse genetic and disease contexts and prioritizes druggable circadian targets. Released as an AI‐powered interactive web portal, RHINO unifies genetic, regulatory, disease, and drug–target information, enabling context‐specific ...
Ying Chen +12 more
wiley +1 more source
Abstract INTRODUCTION Preserving adult hippocampal neurogenesis alleviates cognitive deficits in Alzheimer's disease (AD), yet how biophysical alterations in such as stiffness in the neurogenic niche regulate neurogenesis remains unclear. METHODS Stiffness in the hippocampal dentate gyrus subgranular cell zone (SGZ) of 5×FAD mice was measured using ...
Weiqi Sun +25 more
wiley +1 more source
46, XY disorders of sex development combined with aceruloplasminaemia: a case report and review of the literature. [PDF]
Li Y +5 more
europepmc +1 more source
Abstract INTRODUCTION We assessed the association between cardiovascular disease (CVD) and cognitive decline in adults aged 50 years or older using pooled data from five multinational cohorts, quantified heterogeneity, and explored its potential sources.
Juanjuan Li +9 more
wiley +1 more source
The clinical diversity and molecular etiology in 46, XY disorders of sex development patients without uterus. [PDF]
Ding L, Luo M, Deng S, Zhang D, Tian Q.
europepmc +1 more source
Abstract INTRODUCTION Retinal vascular alterations have been associated with cerebral small vessel disease (SVD) in frontotemporal dementia (FTD), but their relationship with magnetic resonance imaging (MRI)‐derived glymphatic‐related diffusion markers remains unclear.
William Robert Kwapong +11 more
wiley +1 more source

