Search Results - (Author, Cooperation:R. Kofler)

2013-03-12

Nature Publishing Group (NPG)

0028-0836

1476-4687

Biology

Chemistry and Pharmacology

Medicine

Natural Sciences in General

Physics

Amyotrophic Lateral Sclerosis ; Animals ; Animals, Newborn ; Axons/metabolism/pathology ; Cell Death ; Diaphragm/innervation ; Embryo Loss ; Embryo, Mammalian/metabolism/pathology ; Exons/genetics ; Female ; Fibroblasts ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mice, Transgenic ; Motor Neurons/*metabolism/*pathology ; Muscular Atrophy, Spinal ; Neuromuscular Diseases/metabolism/pathology ; Oxidative Stress ; RNA Processing, Post-Transcriptional ; RNA, Transfer, Tyr/genetics/*metabolism ; Respiration ; Spinal Nerves/cytology ; Transcription Factors/deficiency/*metabolism ; Tumor Suppressor Protein p53/metabolism ; Tyrosine/genetics/metabolism

1365-2133

Blackwell Publishing Journal Backfiles 1879-2005

Medicine

Summary Hyperpigmented macules are a characteristic feature of neurofibromatosis and the McCune-Albright syndrome. Whereas neurofibromatosis 1 has an autosomal dominant mode of inheritance, it has been suggested that McCune–Albright syndrome is the result of a lethal gene surviving by mosaicism. Recent molecular studies have supported this concept by providing evidence of a somatic mutation of the gene encoding the G protein. We report two patients with McCune–Albright syndrome whose melanotic macules show a clear relation to the lines of Blaschko. The lines of Blaschko are thought to represent the dorso-ventral outgrowth of two different cell populations during embryogenesis, thus reflecting genetic mosaicism. A survey of published photographs of patients with McCune–Albright syndrome in the literature revealed additional cases with macules following Blaschko's lines. In other cases, the configuration of the macules was reminiscent of the flag-like rectangular pattern of pigmentation found in human chimaeras. A very early somatic mutation may have similar effects on the pigmentation pattern as a chimaeric state, which is the result of the double fertilization of an ovum. Café-au-lait spots in 10 of our own patients with neurofibromatosis 1 could not be associated with either Blaschko's lines or the rectangular pattern of pigmentation in chimaeras. We conclude that, in contrast with the calé-au-lait spots in autosomal dominant neurofibromatosis 1. the configuration pattern of melanotic macules in McCune–Albright syndrome in many cases characteristically reflects the mosaic state of the organism.

Electronic Resource

0029-554X

Elsevier Journal Backfiles on ScienceDirect 1907 - 2002

Energy, Environment Protection, Nuclear Power Engineering

Physics

Electronic Resource

0168-9002

Elsevier Journal Backfiles on ScienceDirect 1907 - 2002

Physics

Electronic Resource

1432-119X

Glucocorticoid-induced apoptosis Lymphatic leukemia Pathophysiology DNA chip analysis CCRF-CEM

Springer Online Journal Archives 1860-2000

Biology

Medicine

Abstract. Glucocorticoids (GCs) induce programmed cell death with the morphologic characteristics of apoptosis in cells of the lymphoid lineage at certain stages of differentiation. Although the physiological significance of this phenomenon is not well understood, it has been exploited to a great extent in the therapy of malignant lymphoproliferative disorders. In spite of its clinical importance, the molecular mechanisms underlying GC-induced apoptosis and – clinically even more important – resistance to this phenomenon are not known. This review summarizes efforts from our and other laboratories addressing these issues in human lymphoblastic leukemia, with particular emphasis on the CCRF-CEM childhood T-cell leukemia model. These studies have shed some light on the downstream execution phase of GC-induced apoptosis but the critical upstream gene regulatory events have remained a mystery. Very recent DNA chip-based expression profile analyses in our laboratory along with data from the literature have, however, suggested that GC receptor auto-upregulation in sensitive target cells might be the critical event leading to persistent downregulation of central metabolic pathways which is incompatible with cell survival. The validity of this hypothesis and its possible clinical implications are currently being investigated in our laboratory.

Electronic Resource

1432-1211

Springer Online Journal Archives 1860-2000

Biology

Medicine

Electronic Resource

1432-1211

Springer Online Journal Archives 1860-2000

Biology

Medicine

Electronic Resource

1432-2196

Springer Online Journal Archives 1860-2000

Medicine

Electronic Resource