Results 231 to 240 of about 346,213 (330)

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki   +6 more
wiley   +1 more source

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff   +6 more
wiley   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell   +3 more
wiley   +1 more source

“This Is Not My Food”: Exploring Experiences Among Patients With a Migration Background in Specialist Eating Disorder Treatment in Sweden

open access: yesInternational Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Existing evidence on eating disorders (EDs) among migrant groups across the Global North is sparse and mixed, possibly reflecting the heterogeneity of these populations. This qualitative study explored experiences among patients with a migration background in Swedish specialist ED treatment, with a focus on barriers to treatment ...
Mattias Strand   +2 more
wiley   +1 more source

The Prevalence and Burden of Avoidant/Restrictive Food Intake Disorder (ARFID) Symptoms in the Adult General Population of the UK and USA

open access: yesInternational Journal of Eating Disorders, EarlyView.
ABSTRACT Introduction Avoidant/Restrictive Food Intake Disorder (ARFID) is a feeding and eating disorder characterized by avoidant/restrictive eating behaviors that lead to medical and/or functional impairments. While ARFID is increasingly recognized within pediatric populations and specialist clinics, data on its prevalence and burden within the adult
Grace Brownlow   +4 more
wiley   +1 more source

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