Cascading Effects of the Family Check-Up on Mothers' and Fathers' Observed and Self-Reported Parenting and Young Adult Antisocial Behavior: a 12-Year Longitudinal Intervention Trial.

Over a 12-year period, this study examined the effects of the Family Check-Up preventive intervention model on both observed and self-reported parenting behaviors of mothers and fathers as well as how those parenting behaviors were associated with young adult antisocial behavior. Teachers identified 641 early adolescent youth from school settings to be at elevated risk for the development of externalizing behavior and/or substance use. These youth and their families were randomly assigned to the Family Check-Up intervention model (consisting of an adaptive, multi-tiered model of support, including a school-based family resource room, the Family Check-Up, and targeted follow-up services) or a control condition.

Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.

Purpose: The purpose of this study is to report five novel FZD4 mutations identified in familial exudative vitreoretinopathy (FEVR) and to analyze and summarize the pathogenic mechanisms of 34 of 96 reported missense mutations in FZD4.

Methods: Five probands diagnosed with FEVR and their family members were enrolled in the study. Ocular examinations and targeted gene panel sequencing were conducted on all participants.

Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients.

Familial exudative vitreoretinopathy (FEVR) is a severe inherited disease characterized by defective retinal vascular development. With genetic and clinical heterogeneity, FEVR can be inherited in different patterns and characterized by phenotypes ranging from moderate visual defects to complete vision loss. This study was conducted to unravel the genetic and functional etiology of a 4-month-old female FEVR patient.

Deciphering a crucial dimeric interface governing Norrin dimerization and the pathogenesis of familial exudative vitreoretinopathy.

Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disease that could cause blindness. It has been established that Norrin forms dimers to activate β-catenin signaling, yet the core interface for Norrin dimerization and the precise mechanism by which Norrin dimerization contributes to the pathogenesis of FEVR remain elusive. Here, we report an NDP variant, c.

Frameshift variants in the C-terminal of CTNNB1 cause familial exudative vitreoretinopathy by AXIN1-mediated ubiquitin-proteasome degradation condensation.

The β-catenin has two intrinsically disordered regions in both C- and N-terminal domains that trigger the formation of phase-separated condensates. Variants in its C-terminus are associated with familial exudative vitreoretinopathy (FEVR), yet the pathogenesis and the role of these variants in inducing abnormal condensates, are unclear. In this study, we identified a novel heterozygous frameshift variant, c.

Defective EMC1 drives abnormal retinal angiogenesis via Wnt/β-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy.

Endoplasmic reticulum (ER) membrane protein complex (EMC) is required for the co-translational insertion of newly synthesized multi-transmembrane proteins. Compromised EMC function in different cell types has been implicated in multiple diseases. Using inducible genetic mouse models, we revealed defects in retinal vascularization upon endothelial cell (EC) specific deletion of , the largest subunit of EMC.

A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder; however, the known FEVR-associated variants account for approximately only 50% cases. Currently, the pathogenesis of most reported variants is not well studied, we aim to identify novel variants from FEVR-associated genes and perform a comprehensive functional analysis to uncover the pathogenesis of variants that cause FEVR. Using targeted gene panel and Sanger sequencing, we identified six novel and three known variants in TSPAN12 and NDP.

CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis.

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause vision loss. CTNND1 encodes a cellular adhesion protein p120-catenin (p120), which is essential for vascularization with unclear function in postnatal physiological angiogenesis. Here, we applied whole-exome sequencing to 140 probands of FEVR families and identified 3 candidate variants in the human CTNND1 gene.

A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.

Background: Familial exudative vitreoretinopathy (FEVR) is an inherited blinding eye disease with abnormal retinal vascular development. We aim to broaden the variant spectrum of FEVR and provide a basis for molecular diagnosis and genetic consultation.

Methods: We recruited five FEVR patients from one large Chinese family.

Novel truncating variants in cause familial exudative vitreoretinopathy.

Background: Familial exudative vitreoretinopathy (FEVR) is an inheritable blinding disorder with clinical and genetic heterogeneity. Heterozygous variants in the gene have been reported to cause FEVR. However, the pathogenic basis of -associated FEVR has not been fully explored.

Identification of Two Novel Variants in the Gene that Cause Familial Exudative Vitreoretinopathy.

Familial exudative vitreoretinopathy (FEVR, OMIM 133780) is a severe inherited eye disease characterized by abnormal development of the retinal vasculature. Variants in the reported genes account for ∼50% of total FEVR cases. However, the pathogenesis of the other 50% of FEVR cases remains unclear.

Heterozygote loss-of-function variants in the LRP5 gene cause familial exudative vitreoretinopathy.

Background: Familial exudative vitreoretinopathy (FEVR) is an inherited ocular disease with clinical manifestations of aberrant retinal vasculature. We aimed to identify novel causative variants responsible for FEVR and provided evidence for the genetic counselling of FEVR.

Methods: We applied whole-exome sequencing (WES) on the genomic DNA samples from the probands and performed Sanger sequencing for variant validation.

Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.

Purpose: To investigate causative variants in three Chinese families affected with familial exudative vitreoretinopathy (FEVR).

Methods: Three unrelated Chinese families were recruited in this study. The three probands and their family members experienced a comprehensive age-appropriate eye examination and genetic analysis.

Secure attachment in infancy predicts context-dependent emotion expression in middle childhood.

Attachment security has been linked to healthy socioemotional development, but less is known about how secure attachment in infancy relates to emotional functioning in middle childhood, particularly across multiple contexts. The present study examined associations between secure attachment in infancy and children's context-dependent emotion expression during a parent-child interaction at age 9 (N = 78) among families with Child Protective Services involvement (i.e.

The ER membrane protein complex subunit Emc3 controls angiogenesis via the FZD4/WNT signaling axis.

The endoplasmic reticulum (ER) membrane protein complex (EMC) regulates the synthesis and quality control of membrane proteins with multiple transmembrane domains. One of the membrane spanning subunits, EMC3, is a core member of the EMC complex that provides essential hydrophilic vestibule for substrate insertion. Here, we show that the EMC subunit Emc3 plays critical roles in the retinal vascular angiogenesis by regulating Norrin/Wnt signaling.

Lactamization of sp(2) C-H Bonds with CO2 : Transition-Metal-Free and Redox-Neutral.

The first direct use of carbon dioxide in the lactamization of alkenyl and heteroaryl C-H bonds to synthesize important 2-quinolinones and polyheterocycles in moderate to excellent yields is reported. Carbon dioxide, a nontoxic, inexpensive, and readily available greenhouse gas, acts as an ideal carbonyl source. Importantly, this transition-metal-free and redox-neutral process is eco-friendly and desirable for the pharmaceutical industry.

PEG-derivatized octacosanol as micellar carrier for paclitaxel delivery.

In this study, PEG-derivatized octacosanol copolymer was successfully developed to improve the anti-tumor activity and eliminate toxicity of the commercial formulation of paclitaxel (PTX). MPEG2K-C28, the conjugation of monomethoxy Poly(ethylene glycol) 2000 and octacosanol, was readily soluble in aqueous solution and self-assembled to form micelles with small sizes (< 20 nm) that are efficient in encapsulating PTX with a drug loading of 9.38 ± 0.

Wave energy technology in China.

This paper traces the research stages of China's study of wave energy technology, summarizing the findings and deficiencies of each stage from oscillating water column, through onshore oscillating buoy to floating Duck. It also highlights the major innovations in China's new floating Duck device.