Mutations in the Gene That Encodes the F-Actin Binding Protein Anillin Cause FSGS

FSGS is characterized by segmental scarring of the glomerulus and is a leading cause of kidney failure. Identification of genes causing FSGS has improved our understanding of disease mechanisms and points to defects in the glomerular epithelial cell, the podocyte, as a major factor in disease pathogenesis. Using a combination of genome-wide linkage studies and whole-exonne sequencing in a kindred with familial FSGS, we identified a missense mutation R431C in anillin (ANLN), an F-actin binding cell cycle gene, as a cause of FSGS. We screened 250 additional families with FSGS and found another variant, G618C, that segregates with disease in a second family with FSGS. We demonstrate upregulation of anillin in podocytes in kidney biopsy specimens from individuals with FSGS and kidney samples from a murine model of HIV-1 associated nephropathy. Overexpression of R431C mutant ANLN in immortalized human podocytes results in enhanced podocyte motility. The mutant anillin displays reduced binding to the slit diaphragm associated scaffold protein CD2AP. Knockdown of the ANLN gene in zebrafish morphants caused a loss of glomerular filtration barrier integrity, podocyte foot process effacement, and an edematous phenotype. Collectively, these findings suggest that anillin is important in maintaining the integrity of the podocyte actin cytoskeleton

Cell-cell adhesion proteins in melanocytic pilomatrix carcinoma

Tumors of the matrix of rigid structures include matrical tumors of the hairs, nails, and teeth. These tumors share similar phenotypical and signaling features. Although benign matrical hair tumors are among the most common of these tumors, hair matrix tumors containing pigmented melanocytes are very rare. The malignant variant called melanocytic pilomatrix carcinoma contains benign colonizing dendritic melanocytes admixed with the carcinomatous follicular matrical cells

Petrographical and geochemical evidences for paragenetic sequence interpretation of diagenesis in mixed siliciclastic–carbonate sediments: Mozduran Formation (Upper Jurassic), south of Agh-Darband, NE Iran

The Upper Jurassic Mozduran Formation with a thickness of 420 m at the type locality is the most important gas-bearing reservoir in NE Iran. It is mainly composed of limestone, dolostone with shale and gypsum interbeds that grade into coarser siliciclastics in the easternmost part of the basin. Eight stratigraphic sections were studied in detail in south of the Agh-Darband area. These analyses suggest that four carbonate facies associations and three siliciclastic lithofacies were deposited in shallow marine to shoreline environments, respectively. Cementation, compaction, dissolution, micritization, neomorphism, hematitization, dolomitization and fracturing are diagenetic processes that affected these sediments.Stable isotope variations of δ18O and δ13C in carbonate rocks show two different trends. High depletion of δ18O and low variation of δ13C probably reflect increasing temperatures during burial diagenesis, while the higher depletion in carbon isotope values with low variations in oxygen isotopes are related to fresh water flushing during meteoric diagenesis. Negative values of carbon isotopes may have also resulted from organic matter alteration during penetration of meteoric water. Fe and Mn enrichment with depletion of δ18O also supports the contention that alteration associated with higher depletion in carbon isotope values with low variations in oxygen isotopes took place during meteoric diagenesis. The presence of bright luminescence indicates redox conditions during precipitation of calcite cement

Stratigraphic correlation and paleoenvironmental analysis of the hydrocarbon-bearing Early Miocene Euphrates and Jeribe formations in the Zagros folded-thrust belt

The Lower Miocene Euphrates and Jeribe formations are considered as the main targets of the Tertiary petroleum system in the western part of the Zagros Basin. The formations consist of carbonates with some evaporate intercalations of the Dhiban Formation. This study utilized data from a field investigation including newly described outcrop sections and newly discovered productive oil fields within the Kirkuk embayment zone of the Zagros fold and thrust belt such as Sarqala and Kurdamir wells. This work is the first to show a stratigraphic correlation and paleoenvironmental interpretation by investigating both well data and new outcrop data. Three depositional environments were identified, (1) an inner and outer ramp belts environment, (2) shoal environment, and (3) restricted lagoon environment. Within these 3 environments, 12 microfacies were identified, based on the distribution of fauna mainly benthonic foraminifera, rock textures, and sedimentary structures. The inferred shallow water depths and variable salinities in both the Euphrates Formation and Jeribe Formation carbonates are consistent with deposition on the inner ramp (restricted lagoon and shoal) environments. Those found in the Euphrates Formation constrained the depositional environment to the restricted lagoon and shoal environment, while the microfacies in the Jeribe Formation provided evidence for an inner ramp and middle to outer ramp belt environments. This study represents the first detailed research that focuses on the stratigraphic correlation and changes in carbonate facies with the main aim to provide a wider understanding of stratigraphy of these carbonate reservoirs throughout the northern part of Iraq

Whiting–related sediment export along the Middle Miocene carbonate ramp of Great Bahama Bank.

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