Results 301 to 310 of about 677,452 (387)

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

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

Developmental 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, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Pulmonary arteriovenous malformations and other pulmonary aspects of hereditary haemorrhagic telangiectasia

, 2011
Jackson, JE, Shovlin, CL, Wilmshurst, P
core   +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

Effectiveness of polidocanol sclerotherapy in alleviating symptoms in patients with venous malformations. [PDF]

J Vasc Surg Venous Lymphat Disord
Guzelbey T, Cingoz M, Erdim C, Mutlu IN, Kılıckesmez O.   +4 more
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

Prevalence of Retinal Venous Malformations in Patients With Cerebral Cavernous or Arteriovenous Malformations. [PDF]

J Neuroophthalmol
Chan KS, Daulton MR, Reddy VD, McComb EN, Lavine JA.   +4 more
europepmc   +1 more source

Cardiac remodelling in the era of the recommended four pillars heart failure medical therapy

ESC Heart Failure, Volume 12, Issue 2, Page 1029-1044, April 2025.
Abstract Cardiac remodelling is a key determinant of worse cardiovascular outcome in patients with heart failure (HF) and reduced ejection fraction (HFrEF). It affects both the left ventricle (LV) structure and function as well as the left atrium (LA) and the right ventricle (RV).
Giada Colombo, Tor Biering‐Sorensen, Joao P. Ferreira, Carlo Mario Lombardi, Andrea Bonelli, Andrea Garascia, Marco Metra, Riccardo M. Inciardi   +7 more
wiley   +1 more source

Direct oral anticoagulants and venous malformations: literature review and retrospective study of 29 patients. [PDF]

Res Pract Thromb Haemost
Lagneaux E, Boon LM, Revencu N, Vikkula M, Hermans C.   +4 more
europepmc   +1 more source

Efficacy of Sodium Tetradecyl Sulphate  for the Treatment of Venous Malformation of The     Head and Neck

Komal Akram, Uzair Bin Akhtar, Shoaib Younus, Omer Sefvan Janjua, Rubbab Zahra, Syed Maqbool Ahmad Babar   +5 more
openalex   +2 more sources