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Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families.
PLoS One
January 2025
Department of Psychiatry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, United States of America.
Novel denovo variants of exome sequences are major cause of pathogenic neurodevelopmental disorders with a dominant genetic mechanism that emphasize their heterogeneity and complex phenotypes. White Sutton syndrome and Gabriele-de-Vries syndrome are congenital neuro-impairments with overlap of severe intellectual disability, microcephaly, convulsions, seizures, delayed development, dysmorphism of faces, retinal diseases, movement disorders and autistic traits. POGZ gene codes for pogo transposable element-derived zinc-finger protein and YY1 gene regulates transcription, chromatin, and RNA-binding proteins that have been associated with White Sutton and Gabriele-de-Vries syndromes, in recent data.
View Article and Find Full Text PDFAutogene cevumeran with or without atezolizumab in advanced solid tumors: a phase 1 trial.
Nat Med
January 2025
Department of Medicine-Medical Oncology, University of Colorado Cancer Center, Denver, CO, USA.
Effective targeting of somatic cancer mutations to enhance the efficacy of cancer immunotherapy requires an individualized approach. Autogene cevumeran is a uridine messenger RNA lipoplex-based individualized neoantigen-specific immunotherapy designed from tumor-specific somatic mutation data obtained from tumor tissue of each individual patient to stimulate T cell responses against up to 20 neoantigens. This ongoing phase 1 study evaluated autogene cevumeran as monotherapy (n = 30) and in combination with atezolizumab (n = 183) in pretreated patients with advanced solid tumors.
View Article and Find Full Text PDFBroadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene.
Gene
January 2025
Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania. Electronic address:
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.
View Article and Find Full Text PDFDevelopmental programming: Sex-specific effects of prenatal exposure to a real-life mixture of environmental chemicals on liver function and transcriptome in sheep.
Environ Pollut
January 2025
Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA.
Article Synopsis
- Chronic exposure to environmental chemicals (ECs) affects human health, leading to non-communicable diseases, and studying these effects in real-world conditions requires animal models that mimic such exposure.
- Research using sheep exposed to biosolids found metabolic changes in offspring, including altered liver gene expression and sex-specific effects on metabolism.
- The study identified significant differences in gene expression and liver function, particularly in male lambs, suggesting that prenatal exposure to low-dose mixtures of ECs disrupts normal metabolic processes and sexual dimorphism in liver function.
Use of a hidden Markov model for interpretation of serial cow milk paratuberculosis antibody enzyme-linked immunosorbent assay results adjusted for milk yield and quality.
Prev Vet Med
December 2024
School of Veterinary Medicine and Science, University of Nottingham, Sutton Bonington Campus, Leicestershire LE12 5RD, United Kingdom.
Paratuberculosis (Johne's disease), caused by Mycobacterium avium subsp. paratuberculosis (MAP), is a common, economically-important and potentially zoonotic contagious disease of cattle, with worldwide distribution. Disease management relies on identification of animals which are at high-risk of being infected or infectious.
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