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Fetal Tetra-Amelia Birth: A Case Report.
Case Rep Obstet Gynecol
December 2024
Department of Obstetrics and Gynecology, Jimma University School of Medicine, Jimma, Ethiopia.
Fetal limb anomaly presentation varies greatly. It can present as amelia (complete absence of skeletal part of one or more limb), meromelia (partial absence of skeletal part of one or more limb), phocomelia (only rudimentary limb formed), and minor limb disorders like polydactyly. The complete absence of the four fetal limbs is extremely rare.
View Article and Find Full Text PDFEstablishing a robust triangulation framework to explore the relationship between hearing loss and Parkinson's disease.
NPJ Parkinsons Dis
January 2025
Department of Biostatistics, School of Public Health, Xuzhou Medical University, 221004, Xuzhou, Jiangsu, China.
The relationship between hearing loss (HL) and Parkinson's disease (PD) remains unclear. Using individual-level and summary-level data from the UK Biobank and the largest genome-wide association studies, we examined this link through observational, Mendelian randomization and genetic pleiotropy analyses. Among 158,229 participants, PD risk rose with HL severity especially in elder and males, and hearing aids significantly reduced PD risk in males.
View Article and Find Full Text PDFCNV-Finder: Streamlining Copy Number Variation Discovery.
bioRxiv
November 2024
Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Article Synopsis
- Copy Number Variations (CNVs) are crucial in understanding complex diseases and vary across different populations, necessitating large sample studies for accurate analysis.
- The CNV-Finder pipeline utilizes deep learning, specifically Long Short-Term Memory (LSTM) networks, to streamline the identification of CNVs in specific genomic areas, making subsequent analyses like genome sequencing more efficient.
- The tool has been validated with data from various cohorts, focusing on genes related to neurological diseases, and includes an interactive web application for researchers to visualize and refine their findings based on model predictions.
Optical Genome Mapping Reveals Complex and Cryptic Rearrangement Involving :: Fusion in Acute Promyelocytic Leukemia.
Genes (Basel)
October 2024
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Acute promyelocytic leukemia (APL) is an aggressive subtype of acute myeloid leukemia (AML), characterized by the hallmark translocation t(15;17) resulting in a :: fusion. Once diagnosed, APL is now considered to be one of the most treatable forms of AML. However, without early detection and treatment, the disease is associated with rapid deterioration and lethal side effects.
View Article and Find Full Text PDFTrauma and Sensory Systems: Biological Mechanisms Involving the Skin and the 17q21 Gene Cluster.
Biol Psychiatry
November 2024
Department of Psychiatry, University of Colorado Anschutz Medical Campus, Aurora, Colorado. Electronic address:
Article Synopsis
- Childhood trauma increases the risk of neuropsychiatric disorders like PTSD, autism, and ADHD, with a focus on how gene-environment interactions might explain this connection.
- A study found that women exposed to interpersonal violence during adolescence showed unique protein changes linked to Merkel cells, which are important for skin sensations, indicating a specific vulnerability during this developmental stage.
- Future research may uncover mechanisms related to sensory changes after trauma and could lead to new therapies that focus on touch, such as massage or ultrasound treatments.
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