Results 201 to 210 of about 4,226,166 (391)
Fetal alcohol spectrum disorders: a review of interventions for prevention and management in Indigenous communities [PDF]
This resource sheet provides estimates on the prevalence of fetal alcohol spectrum disorders in the general and Indigenous populations of Australia, and reviews the local and international evidence on the effectiveness of programs that aim to prevent or ...
Closing the Gap Clearinghouse
core
The cochaperone BAG3 promotes the stabilization of p53 under heat stress conditions
Under heat stress, BAG3 translocates to the nucleus and forms a complex with Hsp70 and p53, thereby promoting p53 stabilization and enhancing its transcriptional activity. These findings suggest that BAG3 functions as a cochaperone that supports p53‐mediated stress responses in cooperation with Hsp70.
Ngoc Nguyen Thi Minh +2 more
wiley +1 more source
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Review of National Health Screening Program for Infant and Children in Korea [PDF]
Jin Soo Moon
openalex +1 more source
Sub-national health care financing reforms in Indonesia
R. Sparrow +5 more
semanticscholar +1 more source
Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy
ABSTRACT Objective In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.
Mary Chesshyre +152 more
wiley +1 more source
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach +11 more
wiley +1 more source

