Michael E. Rusiniak
Roswell Park Cancer Institute
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Featured researches published by Michael E. Rusiniak.
Nature Genetics | 1998
Muhammad Faiyaz ul Haque; Lily King; Deborah Krakow; Rita M. Cantor; Michael E. Rusiniak; Richard T. Swank; Andrea Superti-Furga; Sayedul Haque; Hasan Abbas; Wasim Ahmad; Mahmud Ahmad; Daniel H. Cohn
The osteochondrodysplasias are a genetically heterogeneous group of disorders affecting skeletal development, linear growth and the maintenance of cartilage and bone. We have studied a large inbred Pakistani family with a distinct form of recessively inherited spondyloepimetaphyseal dysplasia (SEMD) and mapped a gene associated with this dwarfing condition to chromosome 10q23–24, a region syntenic with the locus for the brachymorphic mutation on mouse chromosome 19. We identified two orthologous genes, ATPSK2 and Atpsk2, encoding novel ATP sulfurylase/APS kinase orthologues in the respective regions of the human and mouse genomes. We characterized a nonsense mutation in ATPSK2 in the SEMD family and a missense mutation in the region of Atpsk2 encoding the APS kinase activity in the brachymorphic mouse. ATP sulfurylase/APS kinase catalyses the metabolic activation of inorganic sulfate to PAPS, the universal donor for post-translational protein sulfation in all cell types. The cartilage-specificity of the human and mouse phenotypes provides further evidence of the critical role of sulfate activation in the maturation of cartilage extracellular matrix molecules and the effect of defects in this process on the architecture of cartilage and skeletogenesis.
Annals of Hematology | 2000
James L. Slack; Michael E. Rusiniak
trans retinoic acid (ATRA), both PML-dependent apoptotic mechanisms and myeloid-specific gene expression programs are reactivated. In the clinic, the combination of anthracycline-based chemotherapy plus ATRA cures approximately 80% of APL patients, and a high percentage of relapsed patients can achieve second remissions with arsenic trioxide. With the publication of results from the European APL 93 trial, the ‘standard-of-care’ for induction treatment of APL now includes ATRA plus concurrent anthracycline-based chemotherapy. The amount and type of consolidation therapy necessary for an individual APL patient remains somewhat of an open question, but at present should include at least two cycles of chemotherapy. Based on recent trials that demonstrate a benefit of maintenance ATRA ( ± low-dose chemotherapy), all APL patients should probably receive some type of maintenance therapy. While the above approach currently cures the majority of APL patients, future improvements in the treatment of this disease will require risk-adapted protocols that incorporate real-time molecular monitoring and appropriate introduction of novel therapeutic agents.
American Journal of Physiology-renal Physiology | 2014
Jeffrey W. Pippin; Sean T. Glenn; Ronald D. Krofft; Michael E. Rusiniak; Charles E. Alpers; Kelly L. Hudkins; Jeremy S. Duffield; Kenneth W. Gross; Stuart J. Shankland
Aging nephropathy is characterized by podocyte depletion accompanied by progressive glomerulosclerosis. Replacement of terminally differentiated podocytes by local stem/progenitor cells is likely a critical mechanism for their regeneration. Recent studies have shown that cells of renin lineage (CoRL), normally restricted to the kidneys extraglomerular compartment, might serve this role after an abrupt depletion in podocyte number. To determine the effects of aging on the CoRL reserve and if CoRL moved from an extra- to the intraglomerular compartment during aging, genetic cell fate mapping was performed in aging Ren1cCre × Rs-ZsGreen reporter mice. Podocyte number decreased and glomerular scarring increased with advanced age. CoRL number decreased in the juxtaglomerular compartment with age. There was a paradoxical increase in CoRL in the intraglomerular compartment at 52 and 64 wk of age, where a subset coexpressed the podocyte proteins nephrin, podocin, and synaptopodin. Transmission electron microscopy studies showed that a subset of labeled CoRL in the glomerulus displayed foot processes, which attached to the glomerular basement membrane. No CoRL in the glomerular compartment stained for renin. These results suggest that, despite a decrease in the reserve, a subpopulation of CoRL moves to the glomerulus after chronic podocyte depletion in aging nephropathy, where they acquire a podocyte-like phenotype. This suggests that they might serve as adult podocyte stem/progenitor cells under these conditions, albeit in insufficient numbers to fully replace podocytes depleted with age.
Mammalian Genome | 1996
Michael E. Rusiniak; Edward P. O'Brien; Edward K. Novak; Barone Sm; Michael P. McGarry; Madonna Reddington; Richard T. Swank
Several inherited skeletal/connective tissue defects are associated with hemorrhagic disorders in humans. Accordingly, three mouse mutants (brachymorphic [bm], hemimelic extra toes [Hx], and ulnaless [Ul]), with inherited skeletal abnormalities, were analyzed for hemorrhagic tendencies. All three had prolonged bleeding times. Platelet numbers, size, and function, as well as common soluble plasma clotting factors, were not measurably affected. To further define the bm mutation, its chromosomal location relative to 19 other molecular markers was determined to a high resolution in a large interspecific backcross. Several microsatellite markers were found to be very closely linked to bm and should provide useful entry points for the eventual identification of this gene by positional/candidate cloning techniques. These results suggest that inherited skeletal abnormalities and bleeding tendencies are associated more frequently in both humans and animal models than is commonly recognized. Identification of these genes may reveal novel relationships between osteogenesis and hemostasis.
PLOS ONE | 2017
Natalya V. Kaverina; Hiroyuki Kadoya; Diana G. Eng; Michael E. Rusiniak; Maria Luisa S. Sequeira-Lopez; R. Ariel Gomez; Jeffrey W. Pippin; Kenneth W. Gross; Janos Peti-Peterdi; Stuart J. Shankland; Stuart E Dryer
Podocyte depletion plays a major role in focal segmental glomerular sclerosis (FSGS). Because cells of the renin lineage (CoRL) serve as adult podocyte and parietal epithelial cell (PEC) progenitor candidates, we generated Ren1cCre/R26R-ConfettiTG/WT and Ren1dCre/R26R-ConfettiTG/WT mice to determine CoRL clonality during podocyte replacement. Four CoRL reporters (GFP, YFP, RFP, CFP) were restricted to cells in the juxtaglomerular compartment (JGC) at baseline. Following abrupt podocyte depletion in experimental FSGS, all four CoRL reporters were detected in a subset of glomeruli at day 28, where they co-expressed de novo four podocyte proteins (podocin, nephrin, WT-1 and p57) and two glomerular parietal epithelial cell (PEC) proteins (claudin-1, PAX8). To monitor the precise migration of a subset of CoRL over a 2w period following podocyte depletion, intravital multiphoton microscopy was used. Our findings demonstrate direct visual support for the migration of single CoRL from the JGC to the parietal Bowman’s capsule, early proximal tubule, mesangium and glomerular tuft. In summary, these results suggest that following podocyte depletion, multi-clonal CoRL migrate to the glomerulus and replace podocyte and PECs in experimental FSGS.
Human Molecular Genetics | 1999
Lijun Feng; Albert B. Seymour; Shelley Jiang; Agnes To; Andrew A. Peden; Edward K. Novak; Lijie Zhen; Michael E. Rusiniak; Eva M. Eicher; Margaret S. Robinson; Michael B. Gorin; Richard T. Swank
Pigment Cell Research | 1998
Richard T. Swank; Edward K. Novak; Michael P. McGarry; Michael E. Rusiniak; Lijun Feng
BioEssays | 2004
Wei Li; Michael E. Rusiniak; Sreenivasulu Chintala; Rashi Gautam; Edward K. Novak; Richard T. Swank
Nature Genetics | 2003
Qing Zhang; Baohui Zhao; Wei Li; Naoki Oiso; Edward K. Novak; Michael E. Rusiniak; Rashi Gautam; Sreenivasulu Chintala; Edward P. O'Brien; Yuke Zhang; Bruce A. Roe; Rosemary W. Elliott; Eva M. Eicher; Ping Liang; Christian P. Kratz; Eric Legius; Richard A. Spritz; T. Norene O'Sullivan; Neal G. Copeland; Nancy A. Jenkins; Richard T. Swank
Proceedings of the National Academy of Sciences of the United States of America | 1997
John M. Gardner; Scott C. Wildenberg; Natalie M. Keiper; Edward K. Novak; Michael E. Rusiniak; Richard T. Swank; Neelu Puri; Joshua N. Finger; Nobuko Hagiwara; Anne L. Lehman; Tracy L. Gales; Manfred E. Bayer; Richard A. King; Murray H. Brilliant