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http://dx.doi.org/10.1542/peds.2024-069954C | DOI Listing |
PLoS Genet
January 2025
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom.
The genetic circuitry that encodes the developmental programme of mammals is regulated by transcription factors and chromatin modifiers. During early gestation, the three embryonic germ layers are established in a process termed gastrulation. The impact of deleterious mutations in chromatin modifiers such as the polycomb proteins manifests during gastrulation, leading to early developmental failure and lethality in mouse models.
View Article and Find Full Text PDFFront Psychol
January 2025
Institute for Language Sciences, Utrecht University, Utrecht, Netherlands.
Introduction: Both multilingualism and developmental language disorder (DLD) may be associated with inferior performance in the majority language, albeit for different reasons. At the same time, there is a growing body of evidence that multilingualism may have a positive effect on foreign language performance. This study tests the hypothesis that the positive effects of multilingualism on foreign language learning may be smaller in children with DLD compared to their multilingual peers with typical language development.
View Article and Find Full Text PDFNat Rev Urol
January 2025
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Approximately 20% of paediatric and adolescent/young adult patients with renal tumours are diagnosed with non-Wilms tumour, a broad heterogeneous group of tumours that includes clear-cell sarcoma of the kidney, congenital mesoblastic nephroma, malignant rhabdoid tumour of the kidney, renal-cell carcinoma, renal medullary carcinoma and other rare histologies. The differential diagnosis of these tumours dates back many decades, when these pathologies were identified initially through clinicopathological observation of entities with outcomes that diverged from Wilms tumour, corroborated with immunohistochemistry and molecular cytogenetics and, subsequently, through next-generation sequencing. These advances enabled near-definitive recognition of different tumours and risk stratification of patients.
View Article and Find Full Text PDFNeuromuscul Disord
January 2025
Division of Neuropediatrics and Developmental Medicine, University Children's Hospital Basel (UKBB), University of Basel, Basel, Switzerland. Electronic address:
Most patients with Duchenne muscular dystrophy (DMD) are non-ambulant. Preserving proximal motor function is crucial, rarely studied. Tamoxifen, a selective oestrogen receptor modulator, reduced signs of muscular pathology in a DMD mouse model.
View Article and Find Full Text PDFPediatrics
January 2025
UCSF Benioff Children's Hospital Oakland, Oakland, California.
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