Results 221 to 230 of about 35,966 (338)

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

open access: yesClinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot   +13 more
wiley   +1 more source

Origin and Evolution of Genes in Eukaryotes: Mechanisms, Dynamics, and Functional Implications. [PDF]

open access: yesGenes (Basel)
Saccone S   +5 more
europepmc   +1 more source

Sirt3 Rescues Porphyromonas gingivalis‐Impaired Cementogenesis via SOD2 Deacetylation

open access: yesCell Proliferation, EarlyView.
Sirt3 deacetylated SOD2 via K68 to orchestrate P.g.‐impaired cementogenesis. Reestablishment of the Sirt3/SOD2 axis by honokiol reduced SOD2 acetylation and facilitated cementogenesis. ABSTRACT The keystone pathogen Porphyromonas gingivalis (P.g.) is responsible for cementum resorption in periodontitis; however, the mechanism involved in it remains ...
Xin Huang   +6 more
wiley   +1 more source

FAM20C Modulates Neuronal Differentiation in Hypoxic–Ischemic Brain Damage via KAP1 Phosphorylation and LINE1 RNA m6A‐Dependent H3K9me3 Regulation

open access: yesCell Proliferation, EarlyView.
FAM20C regulates the composition of the YTHDC1‐NCL‐KAP1‐LINE1 RNAs complex, thereby affecting neuronal differentiation in hypoxic–ischemic brain damage (HIBD). ABSTRACT Neurodevelopmental impairment due to hypoxic–ischemic brain damage (HIBD) lacks effective biomarkers and therapeutic targets.
Chen‐xi Feng   +8 more
wiley   +1 more source

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