Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Despite rapid advances in cardiovascular developmental genetics, the precise morphogenetic processes that coordinate heart development, and the genes and signaling pathways that regulate them remain unclear. In this review, we describe a highly conserved signaling pathway, the noncanonical Wnt (planar cell polarity) pathway, and its relationship to cardiovascular development and congenital heart defects. This pathway regulates cell polarity and polarized cell movements in a variety of contexts. Mutations in several genes in this pathway and specifically in the Vang-like 2 (Vangl2) (strabismus) gene, result in abnormalities in the remodeling of the outflow tract and, ultimately, in the cardiac alignment defect double-outlet right ventricle. Polarized cell migration of cardiomyocytes into the outflow tract cushions is inhibited when Vangl2 function is disturbed, suggesting that the noncanonical Wnt pathway may regulate this aspect of outflow tract remodeling. These studies suggest that mutations in Vangl2 and other components of the noncanonical Wnt pathway, may be candidates for causing congenital outflow tract defects in humans.
Trends Cardiovasc Med 2006 Feb
PMID:Vang-like 2 and noncanonical Wnt signaling in outflow tract development. 1647 60

Bronchogenic cyst, also known as inclusion cyst, is a type of congenital endodermal heterotropia derived from an abnormal development of the ventral diverticulum of the foregut or the tracheobronchial tree during embryogenesis. Its interatrial localization is extremely rare and making a final diagnosis without surgery challenges the clinician. Herein, we report a 58-year-old male patient who had an interatrial bronchogenic cyst related to transient ischemic attack.
J Cardiovasc Med (Hagerstown) 2011 Dec
PMID:Bronchogenic cyst of interatrial septum. 2208 16

Thymic carcinoma with central nervous system involvement is very rare in children. A 27-month-old girl presented with a unilateral squint, vomiting, and behavioral changes. Imaging studies showed a silent anterior mediastinal mass and a large metastatic mass at the base of the skull. Biopsy of the anterior mediastinal mass confirmed an undifferentiated tumor consistent with thymic carcinoma. The child died within 3 months of the onset of symptoms, due to progression of the disease. These lethal tumors of unknown histogeneses and etiology are aggressive in nature, resistant to therapy, and have a rapidly fatal course.
Asian Cardiovasc Thorac Ann 2018 Mar
PMID:Undifferentiated thymic carcinoma with intracranial metastasis in a two-year-old. 2941 34