MAP1B (microtubule-associated protein 1B) encodes a cytoskeletal regulator critical for neuronal migration, axon guidance, and cortical circuit formation. Disease-causing variants (DCVs) in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG). However, the phenotypic and neuroimaging spectrum associated with MAP1B-related disease remains incompletely defined.
View Article and Find Full Text PDFWalleye (Sander vitreus) are a sexually dimorphic species in which females are larger than males in adulthood. Walleye can also exhibit sex- and population-based differences in migration behavior. In Lake Erie, we used acoustic telemetry to test the prediction that female walleye exhibit larger broad-scale movements than males during the summer and autumn.
View Article and Find Full Text PDFInterjurisdictional migrations lead to seasonally changing patterns of exploitation risk, emphasizing the importance of spatially explicit approaches to fishery management. Understanding how risk changes along a migration route supports time-area based fishery management, but quantifying risk can be complicated when multiple fishing methods are geographically segregated and when bycatch species are considered. Further, habitat selection in dynamic environments can influence migration behavior, interacting with other management objectives such as water quality and habitat restoration.
View Article and Find Full Text PDFBackground: This study aims to determine the association between clinical patterns of early respiratory disease and diastolic dysfunction in preterm infants.
Methods: Preterm infants <29 weeks' gestation underwent cardiac ultrasounds around day 7 and 14-21. Respiratory dysfunction patterns were classified as stable (ST), respiratory deterioration (RD) or early persistent respiratory dysfunction (EPRD) according to oxygen need.
Cold Spring Harb Mol Case Stud
February 2020
A 20-yr-old man with Proteus syndrome (PS) and somatic mosaicism of the c.49G > A p.(E17K) variant had asymmetric overgrowth of the right frontal and facial bones, asymmetric spinal overgrowth with thoracolumbar scoliosis, dilatation of the inferior vena cava, testicular cystadenoma, bilateral knee deformities, macrodactyly, and apparent intellectual disability.
View Article and Find Full Text PDFThe π-electron donor strength of a triphenylphosphonium ylidyl group (PhP[double bond, length as m-dash]CH-) was explored through its substitution onto a bispyridinylidene (BPY) scaffold. Electrochemical studies revealed that the new triphenylphosphonium ylidyl-substituted BPY is the most reducing di-substituted derivative reported to date (E = -1.55 V vs.
View Article and Find Full Text PDFHarries, SK, Lubans, DR, Buxton, A, MacDougall, THJ, and Callister, R. Effects of 12-week resistance training on sprint and jump performances in competitive adolescent rugby union players. J Strength Cond Res 32(10): 2762-2769, 2018-Sprint performance is an important characteristic for success in many sports, including rugby union.
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