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FLNA wt Allele

Known as: CVD1, CSBS, XLVD 
Human FLNA wild-type allele is located in the vicinity of Xq28 and is approximately 26 kb in length. This allele, which encodes filamin-A protein… 
National Institutes of Health

Papers overview

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2013
2013
Optimization of Wavefront Distortions and Thermal-Stress Induced Birefringence in a Cryogenically-Cooled Multislab Laser Amplifier
The optimization of the Yb:YAG gain medium and absorbing clad parameters was investigated for efficient heat removal in… 
Highly Cited
2004
Highly Cited
2004
Trichomonas vaginalis: random amplified polymorphic DNA analysis of isolates from symptomatic and asymptomatic women in India.
2004
2004
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia
Abstract.X-linked periventricular nodular heterotopia (PNH) (OMIM 300049) is a neuronal migration disorder, associated with… 
Highly Cited
2002
Highly Cited
2002
Familial periventricular heterotopia: Missense and distal truncating mutations of the FLN1 gene
ObjectiveTo examine the clinical and MRI associations in bilateral periventricular nodular heterotopia (BPNH) (MIM # 300049) in… 
Highly Cited
2001
Highly Cited
2001
Disruption of the Mouse μ-Calpain Gene Reveals an Essential Role in Platelet Function
ABSTRACT Conventional calpains are ubiquitous calcium-regulated cysteine proteases that have been implicated in cytoskeletal… 
Highly Cited
2000
Highly Cited
2000
Determination of a cAMP-dependent protein kinase phosphorylation site in the C-terminal region of human endothelial actin-binding protein.
Three different C-terminal regions of human endothelial actin-binding protein-280 (ABP-280 or ABP; nonmuscle filamin) were… 
Highly Cited
1999
Highly Cited
1999
Endogenous presenilin 1 redistributes to the surface of lamellipodia upon adhesion of Jurkat cells to a collagen matrix.
Most familial early-onset Alzheimer's disease cases are caused by mutations in the presenilin 1 (PS1) gene. Subcellular… 
Highly Cited
1999
Highly Cited
1999
Actin filament organization is required for proper cAMP-dependent activation of CFTR.
Previous studies have indicated a role of the actin cytoskeleton in the regulation of the cystic fibrosis transmembrane… 
Highly Cited
1996
Highly Cited
1996
Thrombin-induced GPIb-IX centralization on the platelet surface requires actin assembly and myosin II activation.
In resting platelets, the GPIb-IX complex, the receptor for the von Willebrand factor (vWF), is linked to underlying actin… 
1995
1995
Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure
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