Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Katrin Handschug"'
Autor:
Silke Sperling, Adrian J. L. Clark, Steffen Hennig, Katrin Handschug, Sung-Joo Kim Yoon, Angela Huebner
Publikováno v:
Human Molecular Genetics. 10:283-290
The triple A syndrome (MIM 231550) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia and alacrima. The frequent association with a variety of neurological features may result in a severely disabling disease. We
Publikováno v:
Clinical Genetics. 63:415-417
The triple A or Allgrove syndrome is an autosomal-recessive disease (MIM*231550) characterized by the triad of achalasia, alacrima and adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency. Associated features of the syndrome are neurolo
Publikováno v:
Neuroscience research. 50(1)
LDL receptor-related protein/alpha2-macroglobulin receptor (LRP1/A2MR) a multiligand receptor is considered as not only being a possible risk factor of neurodegenerative diseases like Alzheimer’s disease but also as determining the progression of o
Autor:
Susanne M. Gollin, Shalini Reshmi-Skarja, Adrian J. L. Clark, David N. Finegold, Angela Huebner, Katrin Handschug
Publikováno v:
American journal of medical genetics. Part A. (1)
Triple A syndrome is a rare, autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. Previous studies have shown that the triple A gene (AAAS) maps to chromosomal band 12q13. Mutations in the AAAS gene have been
Autor:
Eva-Maria Fabricius, Katrin Handschug, Christine Gläser, Roman Frank, Gerd Birkenmeier, Katja Heidrich, Dieter Reissig
Publikováno v:
Archives of dermatological research. 290(10)
We compared, using a combination of different immunological methods and by competitive PCR, the expression of the alpha2-macroglobulin receptor/low-density lipoprotein receptor-related protein (alpha2-M-R/LRP) in human keratinocytes and fibroblasts.
Autor:
Wilhelm Teichmann, Susanne Schulz, Christiane Gläser, Katrin Wenzel, Sabine Köhler, Claudia Schnürer, Katrin Handschug
Publikováno v:
Journal of molecular medicine (Berlin, Germany). 76(8)
The low-density lipoprotein receptor-related protein (LRP) is a multifunctional cell-surface receptor that binds and mediates the endocytosis of several structurally and functionally distinct ligands. Involved in a variety of biological processes, in
Autor:
Katrin Handschug, Sabine Ludvik, Andreas Hehr, Ute Schell, Andreas Küchenhoff, Christiane Gläser, Horst Robenek
Publikováno v:
Annals of the New York Academy of Sciences. 737