A genetic mutation found in two human patients with schizophrenia also increased schizophrenia-related behaviors in mice with ...
Researchers at Tel Aviv University, led by Prof. Illana Gozes, examined the effects of different mutations in the ADNP protein, which is essential for normal brain development and aging, on the brain ...
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Gene therapy breakthrough offers hope for severe Dravet syndrome casesAAV-Navβ1 gene therapy effectively reduces seizures and prolongs life in a mouse model of SCN1B-linked Dravet syndrome, ...
It is important to identify infants of affected women as high-risk infants. Scrutinize the maternal history and, when possible, determine the specific EDS type of the mother or affected family ...
In adults the joint pain and fatigue associated with hypermobility-type EDS can be misdiagnosed as chronic fatigue syndrome, hypochondriasis, or depression. [25] Vascular-type EDS may also be ...
A mutation is any detectable and heritable change ... with potential therapeutic applications. Cushing syndrome (CS) is defined by signs and symptoms caused by hypercortisolism.
Feb. 7, 2025 — A research team has made a major discovery on how the CUL5 gene affects CAR-T cell therapy, an advanced cancer therapy. The study reveals that reducing the activity of the CUL5 ...
The firm is seeking accelerated approval for UX111 using reductions in levels of heparan sulfate in cerebrospinal fluid as a surrogate endpoint.
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