Mib1 and Mib2 ubiquitin ligases are very similar in their domain construction. They partake in the Notch signaling pathway by ubiquitinating the Notch receptors Delta and Jagged prior to endocytosis. We have created a targeted mutation of Mib2 and show that its phenotype is a variable penetrance, failure to close the cranial neural tube. The penetrance depends on the genetic background but it appears that Mib2 is not completely essential in mouse development.
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http://dx.doi.org/10.1002/dvg.20349 | DOI Listing |
Eur J Hum Genet
January 2025
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
The etiology of congenital heart disease (CHD) is complex, comprising both genetic and environmental factors. Despite documented familial occurrences, the genetic etiology remains largely elusive. Trio exome sequencing identified a heterozygous FLT4 splice site variant in two families with respectively tetralogy of Fallot (TOF), and variable CHD comprising both the TOF spectrum and aortic coarctation.
View Article and Find Full Text PDFKlin Monbl Augenheilkd
January 2025
Ophthalmology, Talacker Eye Center Zurich (TAZZ), Switzerland.
Background: Nineteen-year follow-up after initial examination on patients with Axenfeld-Rieger anomaly or syndrome (ARAS) and coexisting Fuchs' endothelial dystrophy (FED). All individuals had previously been tested positive for the PITX2 (g.20 913 G>T) mutation.
View Article and Find Full Text PDFBlood
January 2025
Division of Immunology and Allergy, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine; Institute for Immunology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.
View Article and Find Full Text PDFEquine Vet J
January 2025
Université de Lyon, VetAgro Sup, Marcy l'Etoile, France.
Background: Supernumerary digits, or polydactyly, have been described in various species including humans, wild and domestic animals. In horses, it represents the most common congenital limb malformation, which has only been described in isolated cases or nuclear families. Molecular aetiology has not been reported.
View Article and Find Full Text PDFPeerJ
January 2025
Genomic Mechanisms of Ontogenesis, Institute of Cytology and Genetics, Novosibirsk, Novosibirsk, Russia.
Copy number variations of the human gene, resulting from megabase-scale microdeletions or microduplications in the 3p26.3 region, are frequently implicated in neurodevelopmental disorders such as intellectual disability and developmental delay. However, duplication of the full-length human gene presents with variable penetrance, resulting in phenotypes that range from neurodevelopmental disorders to no visible pathologies, even within the same family.
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