ACTN4

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ACTN4

A gene on chromosome 14q24.1 that encodes an actin-binding bundling protein expressed in various cells, playing different roles in each. In non-muscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane; skeletal, cardiac and smooth muscle isoforms are localised to the Z-disc and analogous dense bodies, where they help anchor myofibrillar actin filaments.

Molecular pathology
The non-muscle, alpha-actinin isoform of ACTN4 is concentrated in the cytoplasm, and may be involved in metastasis; ACTN4  mutations have been associated with focal and segmental glomerulosclerosis.
References in periodicals archive ?
The top five types of PGN were IgAN, MsPGN, MN, MCD, and FSGS and the top four types of SGN were LN, HSP-GN, HBV-GN, and DN.
The Spectrum of Biopsy-Proven Glomerular Disease in China: A Systematic Review
And their parents have now set up a Facebook page, Rubi's FSGS Journey, in the hope of raising awareness of the disease.
Our precious Rubi; YOUNGSTER DEFIES DEADLY ULTRA-RARE ILLNESS 'Wee star' is only UK sufferer of disease which will leave her needing kidney transplant at five
FSGS in the USA9, Brazil and India10 is having an increasing trend in particular, making this the leading cause of primary glomerulopathy(PGN).
FREQUENCY OF HISTOPATHOLOGICAL PATTERNS OF RENAL DISEASES IN A TERTIARY CARE HOSPITAL
An allograft biopsy showed ten normal glomeruli with negative immunohistology, and early recurrent primary FSGS was deemed to be the most likely diagnosis.
Successful Treatment of Focal Segmental Glomerulosclerosis after Kidney Transplantation with Plasma Exchange and Abatacept in a Patient with Juvenile Rheumatoid Arthritis
Soluble urokinase-type plasminogen activator receptor (suPAR) has recently been suggested as a potential circulating factor in FSGS [9-13].
Soluble Urokinase Receptors in Focal Segmental Glomerulosclerosis: A Review on the Scientific Point of View
Even the idiopathic variety of FSGS is not a single entity.
Understanding the pathogenesis of focal segmental glomerulosclerosis: morphology vs. molecules
Heavy proteinuria in patients without edema or hypoalbuminemia is more likely to be due to secondary FSGS.
Clinical, biochemical and histopathological profile of adult nephrotic syndrome patients in a tertiary care hospital
FSGS was found in 2 patients who underwent biopsy because of increased serum creatinine level after cyclosporine treatment.
Long-term results of children diagnosed with idiopathic nephrotic syndrome; single center experience
Mesangial proliferative, membranoproliferative, and collapsing FSGS seem to be the patterns that are most frequently seen in association with kala-azar nephropathy, the severity of which can vary from mononuclear interstitial infiltration to a severe, diffuse, inflammatory infiltrate consisting of macrophages, lymphocytes and plasma cells.
Kidney involvement in leishmaniasis--a review
Mutational analysis of seven podocyte genes (NPHS1, NPHS2, WT1, CD2AP, ACTN4, TRPC6 and PLCE1) in 19 non-familial childhood-onset, steroid resistant, biopsy-proven FSGS patients revealed variants of NPHS1, NPHS2, WT1 and CD2AP that could be the cause of the disease in four subjects (21%).
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis--a single-centre experience
The spectrum of FSGS encompasses disease entities characterized by podocyte injury with foot process effacement leading to the characteristic histological pattern of obliteration of glomerular capillaries by extracellular matrix (ECM) accumulation [3].
The impact of histologic variants on FSGS outcomes
This variant of FSGS was first described by Weiss in 1986, who found these lesions in HIV-negative patients (1-3).
The collapsing variant of focal segmental glomerulosclerosis in children/Variante colapsante de la glomeruloesclerosis focal y segmentaria en ninos
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