The placenta has a methylome dramatically unlike that of any somatic cell type. Among other distinctions, it features low global DNA methylation, extensive "partially methylated domains" packed in dense heterochromatin and methylation of hundreds of CpG islands important in somatic development. These features attract interest in part because a substantial fraction of human cancers feature the exact same phenomena, suggesting parallels between epigenome formation in placentation and cancer. Placenta also features an expanded set of imprinted genes, some of which come about by distinctive developmental pathways. Recent discoveries, some from far outside the placental field, shed new light on how the unusual placental epigenetic state may arise. Nonetheless, key questions remain unresolved.
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http://dx.doi.org/10.1007/s00018-022-04568-9 | DOI Listing |
Sci Rep
December 2024
Department of Civil and Environmental Engineering, University of Brasília, Brasília, 70910-900, Brazil.
Given the complexity of the behavior of mining tailings dams built by the technique of hydraulic embankments and the recurring dam ruptures globally, especially in Brazil, ensuring enhanced safety through advanced disposal techniques becomes crucial. While the co-disposal method has been extensively explored for various mineral substances, a notable gap exists in the literature concerning its application specifically to tailings and waste rock generated from phosphate mining operations. This study aims to identify the optimal ratio for a mining tailings and waste rock mixture and evaluate its mechanical behavior in comparison to individual materials.
View Article and Find Full Text PDFNat Commun
December 2024
KoBold Metals, Berkeley, CA, USA.
Plate tectonics is a unique feature of Earth, but its proposed time of initiation is still controversial, with published estimates ranging from ca. 4.2 to 0.
View Article and Find Full Text PDFCureus
November 2024
Physical Medicine and Rehabilitation, St. John's National Academy of Health Sciences, Bengaluru, IND.
Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare genetic disorder characterized by muscle weakness, joint contractures, and cardiac dysfunction. Within this spectrum, EDMD Type 2, attributed to a heterozygous missense variant in exon 9 of the LMNA gene, presents a distinctive clinical profile. This case report details the presentation and management of a teenage girl displaying neck, trunk, upper and lower limb weakness, Achilles tendon contracture, and lordosis.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor.
Results: We present two related patients from Kosovo, describing the clinical, genetic, and therapeutic aspects of the syndrome. The identified novel VIPAS39 pathological variants (c.
BMC Med Imaging
December 2024
Department of Radiology, The Wenzhou Third Clinical Institute Affiliated to Wenzhou Medical University, Wenzhou People's Hospital, Wenzhou, Zhejiang, 325000, China.
Objective: This study investigates the MRI characteristics of primary and metastatic adult granulosa cell tumor with normal estrogen levels (AGCT-NEL) to enhance clinical understanding and diagnostic accuracy of this disease.
Methods: We collected clinical data from 10 patients with AGCT-NEL, confirmed by pathology, treated at our hospital from January 2016 to January 2024. We retrospectively analyzed the MRI features of primary and metastatic lesions from aspects such as shape, edge characteristics, MRI signal, and enhancement features.
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