Results 51 to 60 of about 2,787,926 (407)
Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma
Pediatric Blood &Cancer, EarlyView.ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack +12 more
wiley +1 more source
Effect of Fetal Sex on Maternal and Obstetric Outcomes
Frontiers in Pediatrics, 2017 Fetal sex plays an important role in modifying the course and complications related to pregnancy and may also have an impact on maternal health and well-being both during and after pregnancy.
Mohammed Al-Qaraghouli +1 more
doaj +1 more source
Immune responses at the maternal-fetal interface
Science immunology, 2019 The placenta promotes tolerance of the semiallogeneic fetus while protecting against vertical transmission of infections. Pregnancy poses an immunological challenge because a genetically distinct (nonself) fetus must be supported within the pregnant ...
Stephanie E. Ander, M. Diamond, C. Coyne
semanticscholar +1 more source
Liquid biopsy epigenetics: establishing a molecular profile based on cell‐free DNA
Molecular Oncology, EarlyView.Cell‐free DNA (cfDNA) fragments in plasma from cancer patients carry epigenetic signatures reflecting their cells of origin. These epigenetic features include DNA methylation, nucleosome modifications, and variations in fragmentation. This review describes the biological properties of each feature and explores optimal strategies for harnessing cfDNA ...
Christoffer Trier Maansson +2 more
wiley +1 more source
Advanced Biomedical ResearchBackground: Polycystic ovary syndrome (PCOS) is a worldwide endocrine disorder of reproductive-aged women. In addition to infertility, PCOS may lead to unfavorable maternal and prenatal outcomes in assisted reproductive technology cycles.
Saeideh Dashti +3 more
doaj +1 more source
FEBS Open Bio, EarlyView.Metformin mediates mitochondrial quality control in Leber's hereditary optic neuropathy (LHON) fibroblasts carrying mtDNA mutations. At therapeutic levels, metformin activates AMPK signaling to restore mitochondrial dynamics by promoting fusion and restraining fission, while preserving mitochondrial mass, enhancing autophagy/mitophagy and biogenesis ...
Chatnapa Panusatid +3 more
wiley +1 more source
Inheritance of Solanum chloroplast genomic DNA in interspecific hybrids
Mitochondrial DNA. Part B. Resources, 2021 The chloroplast genomic information was obtained from three wild Solanum and four hybrids by chloroplast genome sequencing. The chloroplast genomes of the seven samples comprise of a circular structure and sizes from 155,581 to 155,612 bp and composed of
Dandan Li +8 more
doaj +1 more source
Maternal phenylketonuria [PDF]
Orvosi Hetilap, 2013 Elevated maternal phenylalanine levels during pregnancy are teratogenic, and may result in embryo-foetopathy, which could lead to stillbirth, significant psychomotor handicaps and birth defects. This foetal damage is known as maternal phenylketonuria.
János, Bókay +3 more
openaire +2 more sources
FEBS Open Bio, EarlyView.dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon +6 more
wiley +1 more source
Shoulder dystocia by severity in families: A nationwide population study
Acta Obstetricia et Gynecologica ScandinavicaIntroduction Previous studies have established a history of shoulder dystocia as an important risk factor for shoulder dystocia, but studies on shoulder dystocia by severity are scarce.
Svein Rasmussen +3 more
doaj +1 more source