Using a 6,056 SNP array, we have further refined the critical region within the Xq28 region. We have also excluded two candidate genes ( FLNA and FAM58A ) mapping in the critical region. The identification of the gene responsible for this rare condition will shed light on the molecular ...
AR nuclear translocation is facilitated by filamin A (FlnA). In the cell nucleus ligand-AR complexes bind to specific DNA elements - androgen-responsive elements (ARE), which are in target gene promoters. These regulate target gene expression at the transcriptional level. A large variety of co...
WW and PDZ domain containing 2 (MAGI2) gene, (7) disruption of the serine/threonine kinase 9 gene, (8) distal 7q duplication syndrome, (9) expansion of the first PolyA tract of aristaless-related homeobox gene (ARX), (10) filamin A (FLNA) mutations, (11) and interstitial deletion ...
ACTLO ACTLORR ACTLPBK ACTLU ACTM ACTMD ACTMO ACTN ACTN1 ACTNOW ACTO ACTOCD ACTOMIS ACTOR ACTORD ACTORS ACTOS ACTOV ACTP ACTPCMD ACTPLA ACTPM ACTPN ACTPO ACTPS ACTPU ACTR ACTRA ACTRAN ACTransit ACTRAV ACTREC ACTREP ACTREQ ▼
1. Introduction Parvalbumin (PA) is a small, acidic, mostly cytosolic Ca2+-binding protein of the EF-hand superfamily. It was found in lower and higher vertebrates, including humans (for reviews, see [1–4]). PA was found in fast twitch muscle cells, heart tissue, nephrons, specific ...