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Quantitative analysis of the root posture of mutants with wavy roots.
Quant Plant Biol
November 2024
Graduate School of Natural Science, Konan University, Kobe 658-8501, Japan.
Plant postures are affected by environmental stimuli. When the gravitational direction changes, the mutants () and () exhibit aberrantly enhanced organ bending. Whether their phenotypes are due to the same mechanism is unknown.
View Article and Find Full Text PDFCase report: Complete response in TMB-H advanced uterine clear cell carcinoma: a case analysis of paclitaxel albumin-bound combined with PD-1/CTLA-4 bispecific antibody.
Front Immunol
December 2024
The Oncology Department of the First Affiliated Hospital of Gannan Medical University, Ganzhou, Jiangxi, China.
Background: Uterine clear cell carcinoma (UCCC) is a rare and aggressive subtype of endometrial cancer, often presenting at an advanced stage with poor prognosis. Treatment options for advanced or recurrent UCCC are currently limited, especially after platinum-based chemotherapy has failed.
Case Presentation: We present the case of a 49-year-old female diagnosed with stage IV uterine clear cell carcinoma.
The Association of Mitochondrial tRNA G5783A Mutation with Major Depressive Disorder in Two Han Chinese Families.
Neuropsychiatr Dis Treat
January 2025
Department of Psychiatry, Suzhou Guangji Hospital, Suzhou, People's Republic of China.
Objective: In this study, we examined the genetic, medical, and molecular traits of two Han Chinese families with the tRNA G5783A mutation to investigate the relationship between mitochondrial DNA (mtDNA) mutations and major depressive disorder (MDD).
Methods: Clinical data and comprehensive mitochondrial genomes were collected from the two families. Variants were assessed for evolutionary conservation, allelic frequencies, and their structural and functional impacts.
Glanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation.
Cureus
December 2024
Obstetrics and Gynecology, Latifa Hospital, Dubai, ARE.
Glanzmann thrombasthenia (GT) is an autosomal recessive platelet functional bleeding disorder caused by mutations in the ITGA2B or ITGB3 genes, often presenting as mucocutaneous bleeding. GT typically presents in infancy, but this study reports a rare case of neonatal presentation in a female infant born to consanguineous parents. The mother, a 27-year-old woman with a family history of GT, presented at 36 weeks gestation for an elective cesarean due to a breech presentation.
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