De Novo Reconstruction of 3D Human Facial Images from DNA Sequence
Advanced Science, EarlyView.This study introduces Difface, a novel deep‐learning model for reconstructing 3D facial images only from DNA data. By integrating transformer networks, spiral convolutions, and a diffusion model, Difface directly aligns high‐dimensional SNP data with 3D facial structures.
Mingqi Jiao +11 more
wiley +1 more source
A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature. [PDF]
Genes (Basel), 2023 Aversa T +7 more
europepmc +1 more source
Etiologies of 46,XY disorders of sex development (DSD): a collaborative study in Hong Kong [PDF]
, 2013 WM But +10 more
openalex +1 more source
Network Desynchronization with Sine Waves: from Synchrony to Asynchrony by Periodic Stimulation
Advanced Science, EarlyView.Exogenous alternating current fields are explored and interact with cerebral cortex slow waves in vitro and in silico. Varying frequency and amplitude of sine waves result in distinct network dynamics, from phase‐locking and entrainment to desynchronization. These responses occupy specific regions within the parameter space.
Joana Covelo +4 more
wiley +1 more source
Advanced Science, EarlyView.This study defines the structure, mechanics, and mechanobiology of the fibrocartilage pericellular matrix (PCM) using the murine meniscus, showing how collagen V deficiency alters PCM properties and disrupts cell mechanosensitive signaling. Findings emphasize the critical role of PCM in fibrocartilage mechanobiology and suggest targeting it can enhance
Chao Wang +13 more
wiley +1 more source
Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats. [PDF]
Sci Rep, 2022 Stachowiak M +12 more
europepmc +1 more source
Advanced Science, EarlyView.This study highlights the role of connexin43 (Cx43) in mediating glia activation and neuroinflammation in glaucoma. Using Cx43 knockout mice, it is shown that macroglial cells‐derived Cx43 modulates microglial activation, proliferation, migration, and polarization.
Guoli Zhao +17 more
wiley +1 more source
46XX Testicular Disorder of Sex Development
Journal of Human Reproductive Sciences, 2022 Aasim N Maldar, Phulrenu H Chauhan
openaire +3 more sources
A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report. [PDF]
BMC Pediatr, 2023 Zhang D +6 more
europepmc +1 more source
Quality of life of patients with 46,
, 2014 Rita Cassia Amaral +9 more
openalex +1 more source