Results 211 to 220 of about 31,174 (282)

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model

Developmental Dynamics, EarlyView.
Abstract Background Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non‐canonical Wnt signaling.
Gamze Akarsu, Katja R. MacCharles, Kenneth Kin Lam Wong, Joy M. Richman, Esther M. Verheyen   +4 more
wiley   +1 more source

A Rare Case of Profound Pulmonary Venous Malformation in an Elderly Individual With Three Major Comorbidities: Genetic Insights. [PDF]

Cureus
Frolov A, Izhar S, Spence SM, Karadaghy B, Schwab M, Tan Y, Daly DT.   +6 more
europepmc   +1 more source

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

Developmental 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, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

Case Report: Diagnostic pitfalls in soft tissue tumors: synovial sarcoma masquerading as venous malformation. [PDF]

Front Oncol
Jiang X, Hu L, Chen H, Yang X, Lin X.
europepmc   +1 more source

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

Developmental 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, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

The use of Sirolimus for an unresectable and refractory venous malformation: A case series. [PDF]

Radiol Case Rep
Carolino DK, Muramatsu K, Tani Y, Sugimoto H, Ueda M.   +4 more
europepmc   +1 more source

Solar Fuels Via Methane Valorization: Thermochemical Pathways, Unified Metrics, and Techno‐Economic Perspectives

ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.
A first‐of‐its‐kind review benchmarks three solar methane valorization pathways with unified performance metrics for clean fuel production. Meeting global climate targets and sustainable energy demands requires carbon‐neutral fuels and innovative conversion pathways.
Muhammad Abdulmoez, Amjad Othman, Majid Linjawi, Amro Al‐Qutub   +3 more
wiley   +1 more source

Somatic Genetic Testing Provides Diagnosis of Verrucous Venous Malformation in an Individual with Discrepant Radiology, Pathology, and Clinical Findings. [PDF]

J Vasc Anom (Phila)
Britt A, Bolli A, Treat J, Cahill AM, Adams D, Ganguly A, Queenan M, Surrey L, Low D, Sheppard S.   +9 more
europepmc   +1 more source

Synergistic Microstructure and Dielectric Engineering of Recyclable Single‐Electrode Triboelectric Nanogenerators for Sustainable Smart Homes

ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.
A recyclable triboelectric nanogenerator integrating a pseudo‐honeycomb microstructure with liquid metal doping achieves 120% higher output (122 mW m−2) and >90% retention over seven cycles, enabling self‐powered smart home functions. The performance of single‐electrode triboelectric nanogenerators (SE‐TENGs) is governed by the effective contact area ...
Chencheng Hu, Yuehan Pei, Wenbo Hu, Yu Qi, Ruida Cao, Long Yang, Zitong Kan, Yang Lu, Biao Dong, Hongwei Song, Lin Xu   +10 more
wiley   +1 more source