Oxygen-dependent gene expression in development and cancer: lessons learned from the Wilms’ tumor gene, WT1

Autor: Holger eScholz, Karin M Kirschner

Publikováno v: Frontiers in Molecular Neuroscience, Vol 4 (2011)

Adequate tissue oxygenation is a prerequisite for normal development of the embryo. Most fetal organs are exquisitely susceptible to hypoxia which occurs when the delivery of oxygen is exceeded by the actual demand. Developmental abnormalities due to

Externí odkaz: https://doaj.org/article/e870382caf524b5494f3b751cbd49f71

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Autor: Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M. Connaughton, Steve Seltzsam, Nina Mann, Amar J. Majmundar, Chen-Han W. Wu, Ana C. Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P. Lifton, Karin M. Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S. Lienkamp, Mirjam M.P. Zegers, Friedhelm Hildebrandt

Publikováno v: Journal of the American Society of Nephrology, 34, 2, pp. 273-290
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Journal of the American Society of Nephrology, 34, 273-290

Background: About 40 disease genes have been described to date for isolated congenital anomalies of the kidneys and urinary tract (CAKUT), the most common cause of childhood chronic kidney disease. However, these genes account for only 20% of cases.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4439761a65e0ca2ac0685948bb12003
https://repository.ubn.ru.nl/handle/2066/290858

Wt1 haploinsufficiency induces browning of epididymal fat and alleviates metabolic dysfunction in mice on high-fat diet

Autor: Karin M. Kirschner, Michael Schupp, Ulrich Kintscher, Holger Scholz, Sabrina Gohlke, Roberto E. Flores, Tim J. Schulz, Chen Li, Anna Foryst-Ludwig

Publikováno v: Diabetologia

Aims/hypothesis Despite a similar fat storing function, visceral (intra-abdominal) white adipose tissue (WAT) is detrimental, whereas subcutaneous WAT is considered to protect against metabolic disease. Recent findings indicate that thermogenic genes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::607784dc4197003a8aaf732cb02f7b34
http://europepmc.org/articles/PMC8803700

Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1

Autor: Hendrik Schlee, Holger Scholz, Cornelia Kraus, Ria Schönauer, Jan Halbritter, Wenjun Jin, Diana Le Duc, Karin M. Kirschner, Johannes Münch

Publikováno v: Journal of Medical Genetics. 58:140-144

PurposeAutosomal dominant polycystic kidney disease (ADPKD), caused by pathogenic variants of either PKD1 or PKD2, is characterised by wide interfamilial and intrafamilial phenotypic variability. This study aimed to determine the molecular basis of m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::974b506510ea0e5ab97a875e2624dbea
https://doi.org/10.1136/jmedgenet-2019-106633

Adaptation of the Oxygen Sensing System during Lung Development

Autor: Karin M. Kirschner, Simon Kelterborn, Herrmann Stehr, Johanna L. T. Penzlin, Charlotte L. J. Jacobi, Stefanie Endesfelder, Miriam Sieg, Jochen Kruppa, Christof Dame, Lina K. Sciesielski

Publikováno v: Oxidative Medicine and Cellular Longevity.

During gestation, the most drastic change in oxygen supply occurs with the onset of ventilation after birth. As the too early exposure of premature infants to high arterial oxygen pressure leads to characteristic diseases, we studied the adaptation o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f73199af2589c725a84fa6a54aed770