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The regulation of muscle contraction is a critical function in the cardiovascular system, and
abnormalities may be life-threatening or cause illness. The common basic mechanism in …

Developmental biologists rely on genetics-based approaches to understand the origins of
congenital abnormalities. Recent advancements in genomics have made it easier than ever …

Reversible protein phosphorylation is a fundamental regulation mechanism in eukaryotic
cell and organismal physiology, and in human health and disease. Until recently, and unlike …

Transposable elements (TEs) are major components of all vertebrate genomes that can
cause deleterious insertions and genomic instability. However, depending on the specific …

Among tetrapods, the well differentiated heteromorphic sex chromosomes of birds and
mammals have been highly investigated and their master sex-determining (MSD) gene …

Background Holoprosencephaly is the most common malformation of the forebrain (1 in 250
embryos) with severe consequences for fetal and child development. This study evaluates …

The cortex is a highly organized structure that develops from the caudal regions of the
segmented neural tube. Its spatial organization sets the stage for future functional …

Protein phosphatase 1 is a major Ser/Thr protein phosphatase activity in eukaryotic cells. It
is composed of a catalytic polypeptide (PP1C), with little substrate specificity, that interacts …

Background The recent guidelines suggest the use of genome‐wide analyses, such as
whole exome sequencing (WES), at the beginning of the diagnostic approach for cases with …