Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Animal models of kabuki syndrome and their applicability to novel drug discovery.
Expert Opin Drug Discov
January 2025
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Introduction: Kabuki Syndrome (KS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and multiple congenital anomalies. It is caused by pathogenic variants in the and genes. Despite its significant disease burden, there are currently no approved therapies for KS, highlighting the need for advanced research and therapeutic development.
View Article and Find Full Text PDFBiallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality.
Gynecol Endocrinol
December 2025
Department of Reproductive Medicine, the Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, China.
Oocyte maturation arrest (OMA) may occur at different stages, including the germinal vesicle (GV), metaphase I (MI), and metaphase II (MII). A total maturation arrest of human oocytes is rarely observed during fertilization (IVF). We have identified a case of infertile female for whom all oocytes fail to mature and are arrested at MI.
View Article and Find Full Text PDFTargeting the IKZF1/BCL-2 axis as a novel therapeutic strategy for treating acute T-cell lymphoblastic leukemia.
Cancer Biol Ther
December 2025
Department of Hematology, Taixing People's Hospital Affiliated to Yangzhou University, Taixing, China.
Objectives: Acute T-cell lymphoblastic leukemia (T-ALL) is a severe hematologic malignancy with limited treatment options and poor long-term survival. This study explores the role of IKZF1 in regulating BCL-2 expression in T-ALL.
Methods: CUT&Tag and CUT&Run assays were employed to assess IKZF1 binding to the BCL-2 promoter.
Pro-cumulin addition in a biphasic in vitro oocyte maturation system modulates human oocyte and cumulus cell transcriptomes.
Mol Hum Reprod
January 2025
Follicle Biology Laboratory, Research Group Genetics, Reproduction and Development, Vrije Universiteit Brussel (VUB), Brussels, Belgium.
Biphasic in vitro oocyte maturation (IVM) can be offered as a patient-friendly alternative to conventional ovarian stimulation in in vitro fertilization (IVF) patients predicted to be hyper-responsive to ovarian stimulation. However, cumulative live birth rates after IVM per cycle are lower than after conventional ovarian stimulation for IVF. In different animal species, supplementation of IVM media with oocyte-secreted factors (OSFs) improves oocyte developmental competence through the expression of pro-ovulatory genes in cumulus cells.
View Article and Find Full Text PDFImproving Outcomes in VEXAS Syndrome: The Need for Prospective Data.
Rheumatology (Oxford)
January 2025
Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!