Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features.

RASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS-MAPK pathway. RASA1 mutations are the cause of an autosomal dominant disorder called capillary malformation-arteriovenous malformation type 1 (CM-AVM1). Unlike other RASopathies, facial dysmorphism has not been described in these patients.

Kinetics and mechanisms of the pyridinolysis of phenyl and 4-nitrophenyl chlorothionoformates. Formation and hydrolysis of 1-(aryloxythiocarbonyl)pyridinium cations.

The title reactions are subjected to a kinetic study in water, at 25.0 degrees C, and an ionic strength of 0.2 M (KCl).

Kinetic study of the aminolysis and pyridinolysis of O-phenyl and O-ethyl O-(2,4-dinitrophenyl) thiocarbonates. A remarkable leaving group effect.

The reactions of a series of secondary alicyclic (SA) amines with O-phenyl and O-ethyl O-(2,4-dinitrophenyl) thiocarbonates (1 and 2, respectively) and of a series of pyridines with the former substrate are subjected to a kinetic investigation in water, at 25.0 degrees C, ionic strength 0.2 M (KCl).

Concerted Mechanisms of the Reactions of Phenyl and 4-Nitrophenyl Chlorothionoformates with Substituted Phenoxide Ions.

The title reactions are subjected to a kinetic study in 3% (v/v) dioxane in water, 25.0 degrees C, ionic strength 0.2 M (KCl).

Kinetics and Mechanism of the Aminolysis of Phenyl and 4-Nitrophenyl Chlorothionoformates.

The reactions of a series of secondary alicyclic amines with the title substrates are subjected to a kinetic investigation in aqueous solution, 25 degrees C, ionic strength 0.2 M (maintained with KCl). Under amine excess pseudo-first-order rate coefficients (k(obsd)) are found.

Kinetics and Mechanism of the Pyridinolysis of Alkyl Aryl Thionocarbonates.

The reactions of methyl 4-nitrophenyl, ethyl 4-nitrophenyl, and ethyl 2,4-dinitrophenyl thionocarbonates (MNPTOC, ENPTOC, and EDNPTOC, respectively) with a series of 3- and 4-substituted pyridines are subjected to a kinetic investigation in water, 25.0 degrees C, ionic strength 0.2 M (maintained with KCl).