The Experts below are selected from a list of 309 Experts worldwide ranked by ideXlab platform

Friedhelm Hildebrandt - One of the best experts on this subject based on the ideXlab platform.

  • identification of the first Gene Locus ssns1 for steroid sensitive nephrotic syndrome on chromosome 2p
    Journal of The American Society of Nephrology, 2003
    Co-Authors: Arno Fuchshuber, Stephanie M Karle, Arnaud Lemainque, Kirsten Huck, Edgar A Otto, Thomas F Wienker, Friedhelm Hildebrandt
    Abstract:

    ABSTRACT. Disease mechanisms of steroid-sensitive nephrotic syndrome (SSNS) remain unknown. Whereas Gene identification has furthered the understanding of pathomechanisms in steroid-resistant nephrotic syndrome (SRNS), not even a Gene Locus is known for SSNS. Total genome linkage analysis was performed in a consanguineous SSNS kindred to identify a Gene Locus for SSNS. Homozygosity mapping identified a Locus for SSNS on chromosome 2p12-p13.2 between markers D2S292 and D2S289 (multipoint LOD score Z max = 3.01 at D2S145). The first Gene Locus for SSNS, as a first step to detect the responsible Gene, was thus identified. There was clear evidence for Genetic Locus heteroGeneity upon examination of ten additional families with SSNS. E-Mail: fhilde@umich.edu

  • Identification of the First Gene Locus (SSNS1) for Steroid-Sensitive Nephrotic Syndrome on Chromosome 2p
    Journal of the American Society of Nephrology : JASN, 2003
    Co-Authors: Rainer G. Ruf, Arno Fuchshuber, Stephanie M Karle, Arnaud Lemainque, Kirsten Huck, Edgar A Otto, Thomas F Wienker, Friedhelm Hildebrandt
    Abstract:

    Disease mechanisms of steroid-sensitive nephrotic syndrome (SSNS) remain unknown. Whereas Gene identification has furthered the understanding of pathomechanisms in steroid-resistant nephrotic syndrome (SRNS), not even a Gene Locus is known for SSNS. Total genome linkage analysis was performed in a consanguineous SSNS kindred to identify a Gene Locus for SSNS. Homozygosity mapping identified a Locus for SSNS on chromosome 2p12-p13.2 between markers D2S292 and D2S289 (multipoint LOD score Z(max) = 3.01 at D2S145). The first Gene Locus for SSNS, as a first step to detect the responsible Gene, was thus identified. There was clear evidence for Genetic Locus heteroGeneity upon examination of ten additional families with SSNS.

Thomas F Wienker - One of the best experts on this subject based on the ideXlab platform.

  • identification of the first Gene Locus ssns1 for steroid sensitive nephrotic syndrome on chromosome 2p
    Journal of The American Society of Nephrology, 2003
    Co-Authors: Arno Fuchshuber, Stephanie M Karle, Arnaud Lemainque, Kirsten Huck, Edgar A Otto, Thomas F Wienker, Friedhelm Hildebrandt
    Abstract:

    ABSTRACT. Disease mechanisms of steroid-sensitive nephrotic syndrome (SSNS) remain unknown. Whereas Gene identification has furthered the understanding of pathomechanisms in steroid-resistant nephrotic syndrome (SRNS), not even a Gene Locus is known for SSNS. Total genome linkage analysis was performed in a consanguineous SSNS kindred to identify a Gene Locus for SSNS. Homozygosity mapping identified a Locus for SSNS on chromosome 2p12-p13.2 between markers D2S292 and D2S289 (multipoint LOD score Z max = 3.01 at D2S145). The first Gene Locus for SSNS, as a first step to detect the responsible Gene, was thus identified. There was clear evidence for Genetic Locus heteroGeneity upon examination of ten additional families with SSNS. E-Mail: fhilde@umich.edu

  • Identification of the First Gene Locus (SSNS1) for Steroid-Sensitive Nephrotic Syndrome on Chromosome 2p
    Journal of the American Society of Nephrology : JASN, 2003
    Co-Authors: Rainer G. Ruf, Arno Fuchshuber, Stephanie M Karle, Arnaud Lemainque, Kirsten Huck, Edgar A Otto, Thomas F Wienker, Friedhelm Hildebrandt
    Abstract:

    Disease mechanisms of steroid-sensitive nephrotic syndrome (SSNS) remain unknown. Whereas Gene identification has furthered the understanding of pathomechanisms in steroid-resistant nephrotic syndrome (SRNS), not even a Gene Locus is known for SSNS. Total genome linkage analysis was performed in a consanguineous SSNS kindred to identify a Gene Locus for SSNS. Homozygosity mapping identified a Locus for SSNS on chromosome 2p12-p13.2 between markers D2S292 and D2S289 (multipoint LOD score Z(max) = 3.01 at D2S145). The first Gene Locus for SSNS, as a first step to detect the responsible Gene, was thus identified. There was clear evidence for Genetic Locus heteroGeneity upon examination of ten additional families with SSNS.

  • Chymase Gene Locus is not associated with myocardial infarction and is not linked to heart size or blood pressure
    The American journal of cardiology, 1998
    Co-Authors: Arne Pfeufer, Thomas F Wienker, Andreas Busjahn, Athanasios Vergopoulos, Hans Knoblauch, Hidenori Urata, Karl Josef Osterziel, Marianne Menz, Hans Dieter Faulhaber, Armin Steinmetz
    Abstract:

    The chymase Gene is said to be important for the Generation of angiotensin II in the heart and therefore is a candidate Gene for heart disease. However, we were unable to find an association between allelic variants of the chymase Gene and acute myocardial infarction or linkage between the chymase Gene Locus and heart size.

Arno Fuchshuber - One of the best experts on this subject based on the ideXlab platform.

  • identification of the first Gene Locus ssns1 for steroid sensitive nephrotic syndrome on chromosome 2p
    Journal of The American Society of Nephrology, 2003
    Co-Authors: Arno Fuchshuber, Stephanie M Karle, Arnaud Lemainque, Kirsten Huck, Edgar A Otto, Thomas F Wienker, Friedhelm Hildebrandt
    Abstract:

    ABSTRACT. Disease mechanisms of steroid-sensitive nephrotic syndrome (SSNS) remain unknown. Whereas Gene identification has furthered the understanding of pathomechanisms in steroid-resistant nephrotic syndrome (SRNS), not even a Gene Locus is known for SSNS. Total genome linkage analysis was performed in a consanguineous SSNS kindred to identify a Gene Locus for SSNS. Homozygosity mapping identified a Locus for SSNS on chromosome 2p12-p13.2 between markers D2S292 and D2S289 (multipoint LOD score Z max = 3.01 at D2S145). The first Gene Locus for SSNS, as a first step to detect the responsible Gene, was thus identified. There was clear evidence for Genetic Locus heteroGeneity upon examination of ten additional families with SSNS. E-Mail: fhilde@umich.edu

  • Identification of the First Gene Locus (SSNS1) for Steroid-Sensitive Nephrotic Syndrome on Chromosome 2p
    Journal of the American Society of Nephrology : JASN, 2003
    Co-Authors: Rainer G. Ruf, Arno Fuchshuber, Stephanie M Karle, Arnaud Lemainque, Kirsten Huck, Edgar A Otto, Thomas F Wienker, Friedhelm Hildebrandt
    Abstract:

    Disease mechanisms of steroid-sensitive nephrotic syndrome (SSNS) remain unknown. Whereas Gene identification has furthered the understanding of pathomechanisms in steroid-resistant nephrotic syndrome (SRNS), not even a Gene Locus is known for SSNS. Total genome linkage analysis was performed in a consanguineous SSNS kindred to identify a Gene Locus for SSNS. Homozygosity mapping identified a Locus for SSNS on chromosome 2p12-p13.2 between markers D2S292 and D2S289 (multipoint LOD score Z(max) = 3.01 at D2S145). The first Gene Locus for SSNS, as a first step to detect the responsible Gene, was thus identified. There was clear evidence for Genetic Locus heteroGeneity upon examination of ten additional families with SSNS.

Graziella Migliorati - One of the best experts on this subject based on the ideXlab platform.

  • TCRκ, a new splicing of the murine TCRζ Gene Locus, is modulated by glucocorticoid treatment
    Molecular and Cellular Biochemistry, 1999
    Co-Authors: Linda Giunchi, Giuseppe Nocentini, Simona Ronchetti, Andrea Bartoli, Carlo Riccardi, Graziella Migliorati
    Abstract:

    T-cell receptor (TCR) is a multichain receptor in which the TCRζ subunit is important for membrane assembly and signal transduction. Four alternative splicings of the murine TCRζ Gene Locus have been previously described.

  • Short-Term Dexamethasone Treatment Modulates the Expression of the Murine TCRζ Gene Locus
    Cellular immunology, 1997
    Co-Authors: Simona Ronchetti, Linda Giunchi, Giuseppe Nocentini, Andrea Bartoli, Carlo Riccardi, Rosalba Moraca, Graziella Migliorati
    Abstract:

    Glucocorticoids (GCH) are highly effective agents in controlling inflammation and immune response. We studied the effect of the synthetic GCH dexamethasone (DEX) on the expression of TCR zeta Gene splicings that code for some chains belonging to the T-cell receptor (TCR)/CD3 complex. In the DEX-treated hybridoma T-cell line 3DO, TCR zeta Gene splicings increase within the first 24 hr (about fourfold increase), as demonstrated by reverse transcriptase-polymerase chain reaction and RNase protection assay. This increase is due to the stimulation of TCR zeta Gene Locus transcription, as demonstrated by the "run-on" assay. A similar upregulation was observed in murine thymocytes following in vivo DEX treatment. As a consequence of TCR zeta Gene Locus modulation, the expression of the spliced mRNAs coding for TCR zeta and TCR eta subunits is increased, whereas their relative ratio is only slightly changed. Indeed, the amount of TCR zeta protein in 24-hr DEX-treated cells is fivefold more than that in the untreated cells. A similar effect was seen in 3DO cells treated with hydrocortisone but not in those treated with testosterone. TCR zeta protein increase was confined to the cytoplasm and therefore TCR/CD3 complex expression did not increase. This newly described effect of DEX may constitute an additional molecular mechanism that contributes to its immunomodulating activity.

Rainer G. Ruf - One of the best experts on this subject based on the ideXlab platform.

  • Mapping a new suggestive Gene Locus for autosomal dominant nephrolithiasis to chromosome 9q33.2–q34.2 by total genome search for linkage
    Nephrology dialysis transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2005
    Co-Authors: Matthias T.f. Wolf, Rainer G. Ruf, Isabella Zalewski, Félix Claverie Martín, Dominik N. Müller, Hans Christian Hennies, Stella Schwarz, Franziska Panther, Massimo Attanasio, Hilaria G. Acosta
    Abstract:

    BACKGROUND Nephrolithiasis is a complex, multifactorial disease resulting from Genetic and environmental interaction. The pathoGenesis of nephrolithiasis is far from being understood. So far, no Gene Locus for autosomal dominant nephrolithiasis only has been described. We here identified a new suggestive Gene Locus for autosomal dominant nephrolithiasis by a genome-wide search for linkage in a Spanish kindred with nephrolithiasis. METHODS Clinical data, blood and urine samples of 18 individuals from a Spanish kindred with nephrolithiasis were collected. We performed a genome-wide search for linkage using 380 polymorphic microsatellite markers. RESULTS Nephrolithiasis segregated in this Spanish kindred in a pattern compatible with autosomal dominant inheritance. The total genome search yielded the highest two-point LOD score of Z(max) = 1.99 (theta = 0) for marker D9S159 on chromosome 9q33.2-q34.2. Multipoint analysis of 24 polymorphic markers used for further fine mapping resulted in a LOD score of Z(max) = 2.7 (theta = 0) for markers D9S1881-D9S164, thereby identifying a new Gene Locus for autosomal dominant nephrolithiasis (NPL1). Two recombination events define D9S1850 as the centromeric flanking marker and D9S1818 as the telomeric flanking marker, restricting the NPL1 Locus to a 14 Mb interval. CONCLUSION We here identified a new suggestive Gene Locus (NPL1) for autosomal dominant nephrolithiasis. It is localized on chromosome 9q33.2-q34.2. The identification of the responsible Gene will provide new insights into the molecular basis of nephrolithiasis.

  • Identification of the First Gene Locus (SSNS1) for Steroid-Sensitive Nephrotic Syndrome on Chromosome 2p
    Journal of the American Society of Nephrology : JASN, 2003
    Co-Authors: Rainer G. Ruf, Arno Fuchshuber, Stephanie M Karle, Arnaud Lemainque, Kirsten Huck, Edgar A Otto, Thomas F Wienker, Friedhelm Hildebrandt
    Abstract:

    Disease mechanisms of steroid-sensitive nephrotic syndrome (SSNS) remain unknown. Whereas Gene identification has furthered the understanding of pathomechanisms in steroid-resistant nephrotic syndrome (SRNS), not even a Gene Locus is known for SSNS. Total genome linkage analysis was performed in a consanguineous SSNS kindred to identify a Gene Locus for SSNS. Homozygosity mapping identified a Locus for SSNS on chromosome 2p12-p13.2 between markers D2S292 and D2S289 (multipoint LOD score Z(max) = 3.01 at D2S145). The first Gene Locus for SSNS, as a first step to detect the responsible Gene, was thus identified. There was clear evidence for Genetic Locus heteroGeneity upon examination of ten additional families with SSNS.

  • A Gene Locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3
    Journal of medical genetics, 2003
    Co-Authors: Rainer G. Ruf, Matthias T.f. Wolf, J. Berkman, Peter Nürnberg, Michael Gattas, E. M. Ruf, Valentine J. Hyland, J. Kromberg, Ian A. Glass, J. Macmillan
    Abstract:

    Branchio-oto-renal syndrome (BOR, OMIM 113650) is an autosomal dominant disorder characterised by the association of hearing loss (HL), structural ear anomalies, branchial arch defects, and renal anomalies.1 The prevalence approximates 1:40 000 in the General population, and has been reported in about 2% of deaf children.2 Age of onset for deafness varies from childhood to early adulthood.3 The clinical expression of BOR exhibits wide intra- and interfamilial variability. In addition, reduced penetrance for BOR has been assumed.4 The major feature of BOR, which occurs in 93% of patients, is HL, which can be conductive, sensorineural, or mixed. Besides the classical ear, kidney, and branchial arch anomalies, different developmental manifestations of BOR in other organ systems have been described. Among these, dysfunction of the lacrimal duct system is a common association.5–10 Thus, BOR represents a clinically and Genetically heteroGeneous disease complex that manifests predominantly during organoGenesis. A Gene Locus for autosomal dominant BOR had been localised on chromosome 8q13.11,12 Subsequently, mutations in the human homologue of the Drosophila eyes absent Gene (EYA1) have been shown to be causative for BOR (OMIM 601653).13 Branchio-otic syndrome (BOS) (OMIM 602588) was initially described as a disorder distinct from BOR, featuring the same clinical symptoms as BOR with the exception of renal anomalies.1 The large variety of clinical phenotypes and the description of mutations in the EYA1 Gene for BOR and BOS patients13–15 show that BOR and BOS can represent allelic defects of the EYA1 Gene. The identification of a second Gene Locus in a large BOS pedigree on chromosome 1q31 established the presence of Genetic Locus heteroGeneity for BOS.4 No linkage to this Locus has been published for BOR families and the Gene defect is still to be identified. The issue …