Multistationarity questions in reduced versus extended biochemical networks.

We address several questions in reduced versus extended networks via the elimination or addition of intermediate complexes in the framework of chemical reaction networks with mass-action kinetics. We clarify and extend advances in the literature concerning multistationarity in this context, mainly from Feliu and Wiuf (J R Soc Interface 10:20130484, 2013), Sadeghimanesh and Feliu (Bull Math Biol 81:2428-2462, 2019), Pérez Millán and Dickenstein (SIAM J Appl Dyn Syst 17(2):1650-1682, 2018), Dickenstein et al. (Bull Math Biol 81:1527-1581, 2019).

Knockout mice with pituitary malformations help identify human cases of hypopituitarism.

Background: Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 genes are associated with CH, but a vast majority of CH cases lack a genetic diagnosis. Whole exome and whole genome sequencing of CH patients identifies sequence variants in genes known to cause CH, and in new candidate genes, but many of these are variants of uncertain significance (VUS).

Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.

Context: The pituitary gland is key for childhood growth, puberty, and metabolism. Pituitary dysfunction is associated with a spectrum of phenotypes, from mild to severe. Congenital hypopituitarism (CH) is the most commonly reported pediatric endocrine dysfunction, with an incidence of 1:4000, yet low rates of genetic diagnosis have been reported.