First report from the Czech national registry of inborn errors of immunity (2012-2025). [PDF]
Chovancova Z +26 more
europepmc +1 more source
Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development
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
Abstract Background While heart function is broadly conserved across vertebrates, the cellular phenotype of muscle cells (cardiomyocytes) varies across taxa and throughout ontogeny. Emerging evidence suggests that some attributes may correlate with the capacity for spontaneous cardiomyocyte replacement following injury.
Kathy Jacyniak +4 more
wiley +1 more source
Homozygosity for the Common IL23R R381Q Variant Associates with Increased Susceptibility to Chronic Mucocutaneous Candidiasis. [PDF]
Gerbaux M +9 more
europepmc +1 more source
Myomaker and Myomixer are required for craniofacial myoblast fusion in zebrafish
Abstract Background Craniofacial and trunk skeletal muscles are derived from different progenitor populations during development. Trunk skeletal muscles contain mostly multinucleated myofibers that are formed through myoblast fusion. However, myoblast fusion in craniofacial muscles and its molecular regulation are not well understood.
Zhanxiong Zhang +3 more
wiley +1 more source
Enhancing the Prediction of Inborn Errors of Immunity: Integrating Jeffrey Modell Foundation Criteria with Clinical Variables Using Machine Learning. [PDF]
Yorulmaz A +8 more
europepmc +1 more source
Identification of novel genes regulating the development of the palate
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley +1 more source
Epstein-Barr Virus-Associated Smooth Muscle Tumors in inborn Errors of Immunity: A single-center Case Series and Literature Overview. [PDF]
Aliyeva G +5 more
europepmc +1 more source
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser +5 more
wiley +1 more source

