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Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing.
Mol Genet Genomic Med
January 2025
Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Introduction: This study investigated the impact of the carrier on transferable blastocyst rate and live birth outcomes in couples with structural chromosomal abnormalities.
Methods: Couples were grouped into reciprocal translocation, Robertsonian translocation, or inversions groups, and clinical data were retrospectively analyzed. Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) was conducted, and pregnancy outcomes were compared.
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria.
Eur J Med Genet
December 2024
Department of Neurology & Rehabilitation, Qingdao Women & Children's Hospital, Qingdao University, Qingdao, China. Electronic address:
Lissencephaly (LIS) is a subtype of malformations of cortical development (MCD), characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study investigates the genetic cause of pachygyria in a Chinese male infant diagnosed with the condition, who previously showed no causative variant through trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq). Whole-genome sequencing (WGS) was conducted, revealing a novel heterozygous inversion spanning 1.
View Article and Find Full Text PDFProgressive chromatin rewiring by ETO2::GLIS2 revealed in a human iPSC model of pediatric leukemia initiation.
Blood
December 2024
Institut Gustave Roussy, Villejuif, France.
Pediatric acute myeloid leukemia frequently harbor fusion oncogenes associated with poor prognosis, including KMT2A, NUP98 and GLIS2 rearrangements. While murine models have demonstrated their leukemogenic activities, the steps from a normal human cell to leukemic blasts remain unclear. Here, we precisely reproduced the inversion of chromosome 16 resulting in ETO2::GLIS2 fusion in human induced pluripotent stem cells (iPSC).
View Article and Find Full Text PDFComplex Genomic Landscape of Inversion Polymorphism in Europe's Most Destructive Forest Pest.
Genome Biol Evol
December 2024
Institute of Environmental Sciences, Faculty of Biology, Jagiellonian University, 30-387 Kraków, Poland.
Article Synopsis
- The study investigates polymorphic genomic inversions in the spruce bark beetle (Ips typographus), a significant forest pest in Europe, examining their prevalence and role in local adaptation.
- Researchers analyzed 240 individuals across 18 populations, identifying 27 polymorphic inversions that account for ~28% of the genome, revealing a complex genomic landscape influenced by recombination and overlap.
- The findings suggest that these inversions may be maintained by neutral processes rather than traditional evolutionary mechanisms, and they are notably enriched in genes related to odorant receptors, highlighting their potential impact on traits linked to ecological interactions.
The haplotype-phased genome assembly facilitated the deciphering of the bud dormancy-related QTLs in Prunus mume.
DNA Res
December 2024
Graduate School of Agriculture, Kyoto University, Kyoto 606-8502, Japan.
Bud dormancy is a vital physiological process in woody perennials, facilitating their adaptation to seasonal environmental changes. Satisfying genotype-specific chilling requirements (CR) and heat requirements (HR) through exposure to specific chilling and warm temperatures is essential for dormancy release and the subsequent resumption of growth. The genetic mechanisms regulating bud dormancy traits in Prunus mume remain unclear.
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