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- FLNA Deficiency - GeneReviews® - NCBI Bookshelf
FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilatation and rupture of the thoracic aorta, pulmonary disease (pulmonary hypertension
- FLNA gene: MedlinePlus Genetics
The FLNA gene provides instructions for producing the protein filamin A, which helps build cells' extensive internal network of protein filaments called the cytoskeleton Learn about this gene and related health conditions
- FLNA - Wikipedia
Filamin A, encoded by the FLNA gene, is a widely expressed filamin that regulates the reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and secondary messengers [9] At least 31 disease-causing mutations in this gene have been discovered [10]
- FLNA Gene - GeneCards | FLNA Protein | FLNA Antibody
FLNA (Filamin A) is a Protein Coding gene Diseases associated with FLNA include Melnick-Needles Syndrome and Otopalatodigital Syndrome, Type I Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Signaling by Rho GTPases
- The function and pathogenic mechanism of filamin A - PubMed
Filamin A (FLNa) is an actin-binding protein, which participates in the formation of the cytoskeleton, anchors a variety of proteins in the cytoskeleton and regulates cell adhesion and migration
- Entry - *300017 - FILAMIN A; FLNA - OMIM - (OMIM. ORG)
The FLNA gene encodes filamin A, a widely expressed 280-kD actin-binding protein that regulates reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and second messengers
- The clinical and imaging features of FLNA positive and negative . . .
Mutations in FLNA (Filamin A) is the most common underlying genetic etiology Our purpose is to delineate the clinical and imaging spectrum that differentiates FLNA -positive and FLNA- negative PVNH patients We included 21 patients with confirmed PVNH
- FLNA Deficiency - Walsh Lab
FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilation and rupture of the thoracic aortic, pulmonary disease (pulmonary hypertension
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