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Quantitative Analysis of Pseudogene-Associated Errors During Germline Variant Calling.
Int J Mol Sci
January 2025
Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, 125315 Moscow, Russia.
A pseudogene is a non-functional copy of a protein-coding gene. Processed pseudogenes, which are created by the reverse transcription of mRNA and subsequent integration of the resulting cDNA into the genome, being a major pseudogene class, represent a significant challenge in genome analysis due to their high sequence similarity to the parent genes and their frequent absence in the reference genome. This homology can lead to errors in variant identification, as sequences derived from processed pseudogenes can be incorrectly assigned to parental genes, complicating correct variant calling.
View Article and Find Full Text PDFThe development of preterm infants from low socio-economic status families: The combined effects of melatonin, autonomic nervous system maturation and psychosocial factors (ProMote): A study protocol.
PLoS One
January 2025
Department of Neonatology/Neonatal Intensive Care Unit, University Hospital of Heraklion, School of Medicine, University of Crete, Heraklion, Crete, Greece.
Preterm births constitute a major public health issue and a chronic, cross-generational condition globally. Psychological and biological factors interact in a way that women from low socio-economic status (SES) are disproportionally affected by preterm delivery and at increased risk for the development of perinatal mental health problems. Low SES constitutes one of the most evident contributors to poor neurodevelopment of preterm infants.
View Article and Find Full Text PDFContinuous increase in podocyte numbers in the first 36 months of life-insights from forensic autopsies in Japanese children.
Pediatr Nephrol
January 2025
Department of Pediatrics, Shiga University of Medical Science, Shiga, 520-2192, Japan.
Background: Podocyte depletion is a critical factor in glomerulosclerosis development. While podocyte numbers per glomerulus typically decline with age in adults, they are hypothesized to increase during childhood. However, studies on podocyte number progression in childhood have been limited.
View Article and Find Full Text PDFBone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.
Commun Med (Lond)
January 2025
Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
Background: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD.
View Article and Find Full Text PDFBalancing precision and affordability in assessing infant development in large-scale mortality trials: secondary analysis of a randomised controlled trial.
Arch Dis Child Fetal Neonatal Ed
January 2025
NHMRC Clinical Trials Centre, The University of Sydney, Camperdown, New South Wales, Australia.
Objective: Large-scale mortality trials require reliable secondary assessments of impairment. We compared the Ages and Stages Questionnaire (ASQ-3), a screening tool self-administered by parents, in classifying impairment using the 'gold standard' Bayley Scales of Infant Development (Bayley-III), a diagnostic tool administered by trained assessors.
Design: Analysis of 405 children around 2 years corrected age from the Australian Placental Transfusion Study, a trial conducted over 8 years.
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