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 Forschungsbericht für das Jahr 2017

Department Innere Medizin

Klinik für Innere Medizin IV

Hugstetter Strasse 55
79106 Freiburg
Tel: 0761 / 270-3250 Fax: 0761 / 270-3245
https://www.uniklinik-freiburg.de/medizin4.html


Wissenschaftliche Mitarbeiterinnen und Mitarbeiter

  • Prof.Dr. Gerd Walz
  • PD Dr. Emily Kim
  • Prof. Wolfgang Kühn
  • Prof.Dr. H. Neumann
  • Prof. Tobias Huber
  • Dr. Tina Moser
  • Dr. Elvira Röthele
  • PD Hans-Jörg Busch
  • Dr Elke Neumann-Haefelin
  • Dr Elvira Röthele
  • Prof. Matias Simons
Einträge in der Rubrik "Who is Who"

Forschungsschwerpunkte

  • Effektoren der planaren Polarität in der menschlichen Niere.
  • Molekulare Mechanismen bei der Nierenentwicklung - Systembiologische Ansätze
  • Molekulare Pathogenese der arteriellen Hypertonie
  • Pathogenetische Aspekte des nephrotischen Syndroms. Identifikation neuer Schlitzmembranproteine des Podozyten.
  • Untersuchungen zur molekularen Pathogenese angeborener Zystennieren bei ADPKD und NPH.
  • Funktion und Kontrolle des Regulators der G-Protein-abhängigen Signaltransduktion RGS7.
  • Genomics und Proteomics in der medizinischen Forschung.
  • Modellorganismen zur Studie nierenrelevanter Gene
  • Diagnostik, Pathogenese und Management des von Hippel-Lindau-Syndroms und hereditärer Phäochromozytome.

Finanzierung

  • BIOSS Freiburg Projekt, AG Huber
  • Else-Kröner-Fresenius-Stiftung, Bad Homburg v.d.H.
  • Else-Kröner-Fresenius-Stiftung, Bad Homburg v.d.H. Memorial-Stipendium, Dr- Florian Grahammer, AG Huber
  • Emmy-Noether-Programm, DFG, Bonn Arbeitsgruppenfinanzierung AG Huber
  • Fritz Thyssen Stiftung, Förderantrag AG Huber
  • Klinische Forschergruppe, DFG, Bonn, Teilprojekt, AG Huber

Wissenschaftliche Publikationen

Originalarbeiten in wissenschaftlichen Fachzeitschriften:
  • Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanz D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski Ce, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch`ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Liottlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Souöa,o L, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Atnignac C, Hildebrandt F: Mutations in KEOPS-complex cause nephrotic Syndrome with Primary micocephaly. Nat Genet, 2017; 49 (10): 1529-1538. : http://doi: 10.1038/ng.3933
  • Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, Soliman NA, Hashmi S, Halbritter J, Halty M, Kari JA, El-Desoky S, Ferguson MA, Somers MJG, Traum AZ, Stein DR, Daouk GJ, Rodig NM, Katz A, Hanna S, Schwaderer AL, Sager JA, Wassner AJ, Mane S, Lifton RP, Milosevic D, Tasic V, Baum MA, Hildebrand F: Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis Kidney Int, 2017; 17: 30494-30494-5. : http://doi: 10.1016
  • Fantin R, Schmid B, Busche C, Fritz H, Fink K, Busch HJ: Preclinical use of mild therapeutic hypothermia after cardiac Arrest by the emergency Services in Baden-Württemberg, Germany Med Klin-intensivmed, 2017; 25: 00063. : http://doi: 10.1007/s00063-017-0338-1
  • Fink K, Schmid B, Busch HJ: Use of unmanned drones to deliver an automated external Defibrillator for out-of Hospital cardiac Arrest. Med Klin-intensivmed, 2017; 19: 0367-0369. : http://doi; 10.1007/s00063-017-0367-0
  • Ganner A, Neumann-Haefelin E: Genetic kidney diseases: Caenorhabditis elegans as model System. Cell Tissue Res, 2017; 369 (1): 105-118.
  • Getwan M, Lienkamp SS: Toolbox in a tadpole: Xenopus for kidney Research. Cell Tissue Res, 2017; 369: 143- 157.
  • Helbing T, Arnold L, Wiltgen F, Hirschbihl E, Gabelmann V, Hornstein A, Esser JS, Diehl P, Grundmann S, Busch HJ, Fink K, Bode C, Moser M: Endothelial BMP4 Regulates Leukocyte Diapedesis and Promotes Inflammation. Inflammation, 2017; 40 (6): 1862-1874. : http://doi: 10.1007/s10753-017-0627-0
  • Helbing T, Wiltgen G, Hornstein A, Brauers EZ, Arnold L, Bauer A, Esser JS, Diehl P, Grundmann S, Fink K, Patterson C, Bode C, Moser M: Bone Morphogenetic Protein-Modulator BMPER Regulates Endothelial Barrier Function. Inflammation, 2017; 40 (2): 442-453. : http://doi: 10.1007/s10753-016
  • Holst M: MRTF transcription and Ezrin-dependent plasma membrane blebbing are required for entotic Invasion J Cell Biol, 2017; 28774893: 201702010. : http://doi: 10.1083/jcb.201702010
  • Joos A, Baumann K, Scheidt CE, Lahmann C, König R, Busch HJ, Schulze-Bonhage A: Differéntial diagnosis of dissociative seizures Nervenarzt, 2017; 88 Suppl. 10: 1147-1152. : http://doi: 10.1007/s00115-017-0401-4
  • Kaminski MM, Tosic J, Pichler R, Arnold SJ, Lienkamp SS: Engineering kidney cells: reprogramming and directed Differentiation to renal tissues. Cell Tissue Res, 2017; 369: 185-197.
  • Kuechlin S, Schoels M, Slanchev K, Lassmann S, Walz G, Yakulow T.A: EpCAM controls morphogenetic programs during zebrafish pronephros development. Biochem Bioph Res Co, 2017; 487: 209-215.
  • Michels G, Zinke H, Möckel M, Hempel D, Busche C, Janssens U, Kluge S, Riessen R, Buerke M, Kelm M, von Bardeleben RS, Knebel F, Busch HJ: Recommendations for education in ultrasound in medical intensive care and emergency medicine Position paper of DGIIN, DEGUM and DGK Med Klin-intensivmed, 2017; 112 (4): 314-319. : http://doi: 10.1007/s00063-017-0285-x
  • Nkuipou-Kenfack E, Schanstra JP, Bajwa S, Pejchinovski M, Vinel C, Dray C, Valet P, Bascands JL, Vlahou A, Koeck T, Borries M, Busch H, Bechtel-Walz W, Huber TB, Rudolph KL, Pich A, Mischak H, Zürbig P: The use of urinary proteomics in the assessment of suitability of mouse models for ageing. Plos One, 2017; 12 (2): e0166875. : http://doi: 10.1371/journal.pone 0166875
  • Obrador GT, Schultheiss UT, Kretzler M, Langham RG, Nangaku M, Pecoits-Filho R, Pollock C, Rossert J, Correa-Rotter R, Stenvinkel P, Walker R, Yang CW, Fox CS, Köttgen A: Genetic and environmental risk factors for chronic kidney disease Kidney Int, 2017; 7: 88-106.
  • Rao J, Ashraf S, Tan W, van der Ven AT, Gee HY, Braun DA, Feher K, George SP, Esmaeilniakooshkghazi A, Choi WI, Jobst-Schwan T, Schneider R, Schmidt JM, Widmeier E, Warejko JK, Hermle T, Schapiro D, Lovric S, Shril S, Daga N, Nayir A, Shenoy M, Tse Y, Bald M, Helmchen U, Mir S, Berdeli A, Kari JA, El Desoky S, Soliman NA, Bagga A, Mane S, Jairajpuri MA, Lifton RP, Khurana S, Martins JC, Hildebrandt F: Advillin acts upstream of phospholipase C 1 in steroid-resistent nephrotic syndrome J Clin Invest, 2017; 23: 94138 . : http://doi: 10.1172
  • Rassner MP, Seidl M, Salzer U, Rajkumar SV, Epting T, Wäsch R, Neumann-Haefelin E, Engelhardt M: Cast Nephropathy and Deceptively Low Absolute Serum Free Light Chain Levels: Resolution of a Challenging Case and Systematic Review of the Literature. Cl Lymph Myelom Leuk, 2017; 17: 31014-31015. : http://doi;: 10.1016/j.clml.2017.09.019
  • Riessen R, Kluge S, Janssens U, Kierdrof H, Bodmann KF, Busch HJ, John S, Möckel M: Choosing wisely recommendations in intensive care medicine Internist, 2017; 58 (6): 550-555. : http://doi: 10.1007/s00101-017-0311-7
  • Rogg M: The WD40-domain containing Protein CORO2B is specifically enriched in glomerular podocytes and regulates the ventral actin cytoskeleton. Sci Rep-uk, 2017; 7: 15910.
  • Schell C, Rogg M: The FERM Protein EPB41L5 regulates actomyosin contractility and focal adhesion Formation to maintain the kidney Filtration barrier. PNAS, 2017; 201617004: 1617004114. : http://doi: 10.1073/pnas.161704114
  • Schmid B, Fink K, Kron J, Busch HJ: Dyspnoe in präklinischer und klinischer Notfallmedizin Notfall Rettungsmed, 2017; 10049: 017-0327-1. : http://doi: 10.1007/s10049-017-9327-1
  • Scholz KH, Andresen D, Böttiger BW, Busch HF, Fischer M, Frey N, Kelm M, Kill C, Schieffer B, Storm C, Thiele H, Gräsner JT: Quality indicators and structural requirements for Cardiac Arrest Centers-German Resuscitation Council (GRC) Anaesthesist, 2017; 66 (5): 360-362.
  • Scholz KH, Andresen D, Böttiger BW, Busch HJ, Fischer M, Frey N, Kelm M, Kill C, Schieffer B, Storm C, Thiele H, Gräsner JT: Quality indicators and structural requirements for Cardiac Arrest Centers-German Resuscitation Council (GRC) Med Klin-intensivmed, 2017; 112 (5): 459-461. : http://10.1007/s00063-017-0299-4
  • Tan W, Lovric S, Ashraf S, Rao J, Schapiro D, Airik M, Shril S, Gee HY, Baum M, Daouk G, Ferguson MA, Rodig N, Somers MJG, Stein DR, Vivante A, Warejko JK, Widmeier E, Hildebrandt F: Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistent nephrotic Syndrome at a single Center Pediatr Nephrol, 2017; 18: 00467-017-3301-6. : http://doi: 10.1007/s00467-017-3301-6
  • Vivane A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, Sanna-Cherchi S, Gharavi AG, Lu W, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavailles V, Kleta R, Anikster Y, Dekel B, Kispert A, Lienkampp SS, Hildebrandt F: A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Trat Malformations via Dysregulation of Retinoic Acid Signaling J Am Soc Nephrol, 2017; 2016060694: 101681.
  • Vivante A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssler C, Chen J, Shril S, van der V en AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, Sanna-Cherchi S, Gharavi AG, Lu W, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavailles V, Kleta R, Anikster Y, Dekel B, Kispert A, Lienkamp SS, Hildebrandt F: A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. J Am Soc Nephrol, 2017; 28 (8): 2364-2376. : http://doi; 10.1681/ASN 2016060694
  • Wanner N, Bechtel-Walz W: Epigenetics of kidney disease. Cell Tissue Res, 2017; 369 (1): 75-92. : http://doi: 10.1007/s00441-017-2588-x
  • Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Roding NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu Sa, Müller D, Noyan A, Ozaltiin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Staljiic N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Pidracka L, Büscher R, Seraroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F: Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephro, 2017; 10: 04120417. : http://doi: 102215
  • Wunnenburger S, Schultheiss UT, Walz G, Hausknecht B, Ekici AB, Kronenberg F, Eckhardt KU, Köttgen A, Wuttke M: Associaations between genetic risk variants for kidney diseases and kidney disease etilogy. Sci Rep-uk, 2017; 7 (1): 13944.
Reviews/Übersichtsartikel in wissenschaftlichen Fachzeitschriften:
  • Helmstädter M, Huber TB, Hermle T: Using the Drosophila Nephrocyte Function and Disease Front Pediatr, 2017. (in Druck)
Vorträge:
  • Schultheiss UT: Thyroid Hormones and CKD in the German Chronic Kidney Disease study. 2017 (Kongress für Nephrologie).
  • Schultheiss UT: Genetics of Serum urate concentrations and gout in a high-risk Population, patients with chronic kideny disease. 2017 (American Society of Nephrology, Kidney Week 2017).
  • Schultheiss UT: Hypothyroidism and CKD. Invited talk 2017 (Deuetsche Gesellschaft für Nephrologie, Kongress für Nephrologie).
  • Widmeier: Analysis of 24 Genes Reveals a Monogenic Cause in 11% of Cases with Steroid Resistant Nephrotic Syndrome at a Single Center 2017.
  • Widmeier E: A Homozygous Mutation in VWA2, Encoding an Interactor of the Fraser-Complex as a Likely Cause of Vesico-Ureteral Reflux 2017.
  • Widmeier E: NOS1AP Mutations Cause Steroid-Resistant Nephrotic Syndrome 2017.
  • Widmeier E: Whole Exome Sequencing Identifies Causaative Mutations in 16% and Novel Candidate Genes in 24% of Individuals with a Diagnosis of CAKUT 2017.

Besondere wissenschaftliche Aktivitäten

Stipendien:
  • Bechtel-Walz W: Margarete von Wrangell-Habilitationsprogramm des Wissenschaftsministeriums Baden-Württemberg, 01.04.2013 bis 31.03.2017.

Abschlussarbeiten