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Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review.
BMC Pediatr
January 2025
Pediatric Internal Medicine, Yantai Yuhuangding Hospital, No.20 Yuhuangding East Road, Zhifu District, Yantai City, Shandong, 264000, China.
Background: Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.
View Article and Find Full Text PDFApplication of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.
BMC Genomics
January 2025
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, Hubei, 430030, China.
Background: Left-right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder.
Methods: Through a retrospective analysis conducted between 2020 and 2023 at Tongji Hospital, Huazhong University of Science and Technology, genetic outcomes of LR asymmetric disorder were scrutinized utilizing copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) methodologies.
BrCYP71 mutation resulted in stay-green in pak choi (Brassica rapa L. ssp. chinensis).
Theor Appl Genet
January 2025
College of Horticulture, Shenyang Agricultural University, Shenyang, 110866, People's Republic of China.
BrCYP71 encoding multifunctional oxidase was mapped using BSA-Seq and linkage analysis, and its function in stay-green of pak choi was verified through Arabidopsis heterologous transgenic experiment. Stay-green refers to the phenomenon that plant leaves remain green during senescence and even after death, which is of great significance for improving the commerciality of leafy vegetables during storage or transportation and extending their shelf life. In this study, we identified a stay-green mutant of pak choi and named it nye2.
View Article and Find Full Text PDFTumour hypoxia in driving genomic instability and tumour evolution.
Nat Rev Cancer
January 2025
Translational Oncogenomics Laboratory, Cancer Research UK Manchester Institute, University of Manchester, Manchester, UK.
Intratumour hypoxia is a feature of all heterogenous solid tumours. Increased levels or subregions of tumour hypoxia are associated with an adverse clinical prognosis, particularly when this co-occurs with genomic instability. Experimental evidence points to the acquisition of DNA and chromosomal alterations in proliferating hypoxic cells secondary to inhibition of DNA repair pathways such as homologous recombination, base excision repair and mismatch repair.
View Article and Find Full Text PDFEffect of TKI Maintenance Therapy After Allogeneic Hematopoietic Stem Cell Transplantation on Recurrence of Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia p190 and p210 Transcripts: A Multicentre Study.
Clin Lymphoma Myeloma Leuk
January 2025
Department of Haematology, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China. Electronic address:
Objective: To analyze the impact of tyrosine kinase inhibitor (TKI) maintenance therapy following allogeneic hematopoietic stem cell transplantation (HSCT) in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph + ALL) on recurrence rates and prognosis for the 2 transcripts, p190 and p210.
Methods: We conducted a retrospective analysis of clinical data from 58 patients diagnosed with Ph + ALL who underwent HSCT. All patients received TKI maintenance therapy following hematopoietic reconstruction post-transplantation.
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