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A deep intronic variant associated with X-linked hypophosphatemia in a Finnish family.
JBMR Plus
February 2025
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.
Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants in the X-chromosomal gene, but autosomal dominant and recessive forms also exist. We investigated a Finnish family in which the son (index, 29 yr) and mother (56 yr) had hypophosphatemia since childhood.
View Article and Find Full Text PDFBCOR abnormalities in endometrial stromal sarcoma.
Gynecol Oncol Rep
February 2025
Department of Obstetrics and Gynaecology, Faculty of Medicine, King Abdulaziz University, Rabigh, Saudi Arabia.
Endometrial stromal tumors (ESTs) are uncommon mesenchymal tumors of the reproductive system associated with heterogeneous histomolecular features. According to the World Health Organization (WHO), ESTs are classified into benign endometrial stromal nodules (BESN) and endometrial stromal sarcomas (ESSs), which are further divided into low-grade and high-grade subtypes. High-grade ESS is frequently associated with YWHAE-NUTM2 gene fusions, while a newly recognized subtype with BCOR rearrangements, including fusions, alterations, and internal tandem duplications (ITDs), has recently been incorporated into the molecular classification of ESS.
View Article and Find Full Text PDFNext-Generation Sequencing Analysis on Image-Guided Biopsy Samples in Early-Stage Lung Cancer: Feasibility Study and Comparison With Surgical Samples.
JTO Clin Res Rep
February 2025
Department of Radiology, Icahn School of Medicine at Mount Sinai, New York, New York.
Introduction: Limited information exists on next-generation sequencing (NGS) success for lung tumors of 30 mm or less. We aimed to compare NGS success rates across biopsy techniques for these tumors, assess DNA sequencing quality, and verify reliability against surgical resection results.
Methods: We used data from the Initiative for Early Lung Cancer Research on Treatment study, including patients with lung tumors measuring 30 mm or less who had surgery and NGS on biopsies since 2016.
Case report: special imaging features in a uremic patient with intracranial infection caused by , almost misdiagnosed as demyelinating disease.
Front Med (Lausanne)
January 2025
Department of Neurology, Ningbo First Hospital, Ningbo, Zhejiang, China.
is a very rare pathogen that causes intracranial infection. It is commonly found in immunocompromised patients and is resistant to multiple antibiotics. In this case report, we present a case of human central nervous system infection caused by , which was initially misdiagnosed as demyelinating disease due to the specific imaging findings.
View Article and Find Full Text PDFThe release of sexual conflict after sex loss is associated with evolutionary changes in gene expression.
Proc Biol Sci
January 2025
UMR 1349, IGEPP, INRAE, Institut Agro, Université de Rennes, 35653 Le Rheu and 35000 Rennes, France.
Sexual conflict can arise because males and females, while sharing most of their genome, can have different phenotypic optima. Sexually dimorphic gene expression may help reduce conflict, but the expression of many genes may remain sub-optimal owing to unresolved tensions between the sexes. Asexual lineages lack such conflict, making them relevant models for understanding the extent to which sexual conflict influences gene expression.
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