Results 131 to 140 of about 45,554 (278)
Developmental Dynamics, EarlyView.Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser +5 more
wiley +1 more source
Engineered Metal–Organic Frameworks‐Based Materials for Environmental Detection
ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.Engineered metal–organic frameworks (MOFs) regulated by various material modification strategies are discussed for environmental contaminant detection under different sensing mechanisms, providing future improvements of MOFs in environmental detection. Sensitive and selective detection of contaminants is crucial for environmental protection.
Pan Gao +3 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy +8 more
wiley +1 more source
KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy
Epilepsia, EarlyView.Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan +20 more
wiley +1 more source
Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability. [PDF]
Int J Mol Sci, 2021 Chen YW, Rahman SK.
europepmc +1 more source