Results 81 to 90 of about 96,013 (363)
Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev +14 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source
Clinical and haemodynamic characteristics of preterm infants with early onset sepsis
Journal of Paediatrics and Child Health, Volume 58, Issue 12, Page 2267-2272, December 2022., 2022 Aim Early onset sepsis (EOS) in preterm infants is associated with high morbidity and mortality. Improved characterisation of the haemodynamic presentation of EOS could lead to more effective and targeted treatments. Methods We performed a retrospective observational study of preterm infants ≤32 week' gestation with EOS between 2010 and 2020 and ...
Niall Johnston, Koert de Waal
wiley +1 more source
Zdorovʹe Rebenka, 2013 The article describes the current views on the pathogenesis, clinical picture, diagnosis and treatment of bronchopulmonary dysplasia. Special attention is paid to the influence of ductus arteriosus on the occurrence and severity of bronchopulmonary ...
V.I. Snysar +4 more
doaj +1 more source
Journal of clinical laboratory analysis (Print), 2018 The role of red cell distribution width‐to‐platelet ratio (RPR) has not previously been mentioned in reports on patent ductus arteriosus (PDA).
Buse Özer Bekmez +5 more
semanticscholar +1 more source
Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development
Developmental Dynamics, EarlyView.Abstract Cilia are specialized structures found on a variety of mammalian cells, with variable roles in the transduction of mechanical and biological signals (by primary cilia, PC), as well as in the generation of fluid flow (by motile cilia). Their critical role in the establishment of a left–right axis in early development is well described, as well ...
Stephen Spurgin +8 more
wiley +1 more source
Short‐term effects of fresh mother's own milk in very preterm infants
Maternal &Child Nutrition, Volume 19, Issue 1, January 2023., 2023 Abstract Fresh mother's own milk (MOM) can protect preterm infants from many complications. Often MOM is pasteurized for safety, which can deactivate cellular and bioactive components with protective benefits. Questions remain regarding whether pasteurized MOM provides the same benefits as fresh MOM.
Jing Huang +6 more
wiley +1 more source
Congenital Heart Disease, 2018 Patent ductus arteriosus (PDA) is prevalent in premature newborns and has been linked to the development of bronchopulmonary dysplasia (BPD), a serious pulmonary complication of premature birth.
K. Willis, M. Weems
semanticscholar +1 more source
European Journal of Case Reports in Internal Medicine, 2020 Interrupted aortic arch (IAA) is an extremely rare congenital cyanotic heart disease characterized by complete disruption between the ascending and descending aorta.
Jonan Chun Yin Lee +2 more
doaj +1 more source
MECHANISMS OF DISEASE Acute Oxygen-Sensing Mechanisms [PDF]
, 2005 JOSEPH PRIESTLEY, ONE OF THE THREE SCIENTISTS CREDITED WITH THE discovery of oxygen, described the death of mice that were deprived of oxygen. However, he was also well aware of the toxicity of too much oxygen, stating, “For as a candle burns much faster
Buckler, Keith J. +3 more
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