Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).

Defects in the motor domain of kinesin family member 1A (KIF1A), a neuron-specific ATP-dependent anterograde axonal transporter of synaptic cargo, are well-recognized to cause a spectrum of neurological conditions, commonly known as KIF1A-associated neurological disorders (KAND). Here, we report one mutation-negative female with classic Rett syndrome (RTT) harboring a de novo heterozygous novel variant [NP_001230937.1:p.

Age and sex influences on airway hyperresponsiveness.

Objective: The precise relationship between age and gender and their influence on airway reactivity has not been clearly defined. Previous studies of age and gender influences on airway reactivity have been confounded by environmental influences such as cigarette smoking. The objective of this study was to examine the effect of age and gender on airway reactivity in C57BL/6 mice housed under controlled conditions, independent of confounding environmental factors.

Attenuated methacholine airway response following repeat testing in a murine model of allergic airways disease.

A progressive attenuation of airway reactivity to methacholine is observed in normal individuals with successive bronchial provocation testing. The absence of this attenuation in asthma is thought to be due airway inflammation. The authors investigated this phenomenon in a mouse model of allergic airways disease.

Relaxin plays an important role in the regulation of airway structure and function.

Relaxin is a reproductive hormone with pleiotropic actions. In addition to airway fibrosis, relaxin deficiency results in airway structural changes (epithelial thickening) and increased lung recoil, suggesting that relaxin may impact other aspects of airway/lung structure and function beyond its ability to regulate collagen turnover. Furthermore, these structural changes associated with relaxin deficiency show marked similarity to the structural changes seen in asthma.

Relaxin deficiency in mice is associated with an age-related progression of pulmonary fibrosis.

Relaxin (RLX) is a peptide hormone with known antifibrotic properties. However, its significance in the lung and its role as a therapeutic agent against diseases characterized by pulmonary fibrosis are yet to be established. In this study, we examined age-related structural and functional changes in the lung of relaxin-deficient mice.