Holger ThieleSummaryAffiliation: University of Cologne Country: Germany Publications
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Publications
The val158met polymorphism of human catechol-O-methyltransferase (COMT) affects anterior cingulate cortex activation in response to painful laser stimulationArian Mobascher
Department of Psychiatry, Johannes Gutenberg University, Untere Zahlbacher Str 8, 55131, Germany
Mol Pain 6:32. 2010..In the present fMRI study we therefore sought to investigate the impact of the COMT val158met polymorphism on the blood oxygen level-dependent (BOLD) response to painful laser stimulation...
HaploPainter: a tool for drawing pedigrees with complex haplotypesHolger Thiele
Gene Mapping Center, Max Delbrueck Center MDC for Molecular Medicine, Berlin Buch, Germany
Bioinformatics 21:1730-2. 2005..AVAILABILITY: http://haplopainter.sourceforge.net/ CONTACT: holger.thiele@uni-koeln.de...
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3Dieter E Jenne
Department of Neuroimmunology, Max Planck Institute of Neurobiology, D 82152 Martinsried, Germany
Biol Chem 386:61-7. 2005..We conclude that the structural motif around the Ser606 residue represents an important functional site that may regulate the transient activation and limited proteolysis of calpain 3...
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutationsKim Cryns
Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
Hum Genet 110:389-94. 2002..In contrast, 64% of the Wolfram syndrome mutations are inactivating. Our results indicate that only non-inactivating mutations in WFS1 are responsible for non-syndromic low-frequency hearing impairment...
A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10Markus Pfister
Department of Otolaryngology, University of Tubingen, Tubingen, Germany
Mol Med 8:607-11. 2002..EYA4 is orthologous to the Drosophila gene eya ("eyes absent"), a key regulator of eye formation. EYA4 plays an important role in several developmental processes...
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like diseaseBirgit Uhlenberg
Department of Neuropediatrics, Charite, University Medical School of Berlin, Berlin, Germany
Am J Hum Genet 75:251-60. 2004..In this study, we demonstrate that GJA12 plays a key role in central myelination and is involved in peripheral myelination in humans...
Color-encoded semiautomatic analysis of multi-slice first-pass magnetic resonance perfusion: comparison to tetrofosmin single photon emission computed tomography perfusion and X-ray angiographyHolger Thiele
Department of Cardiology, University of Leipzig Heart Center, Leipzig, Germany
Int J Cardiovasc Imaging 20:371-84; discussion 385-7. 2004....
Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with auraChristian Netzer
Institute of Human Genetics, University of Cologne, Cologne, Germany
Am J Med Genet B Neuropsychiatr Genet 147:37-41. 2008..In summary, we found no convincing evidence for an involvement of common SNPs at the GABA-A receptor cluster on 15q11-q12 in the pathophysiology of MA...
Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26Axel M Hillmer
Department of Genomics, Life and Brain Center, University of Bonn, D 53127 Bonn, Germany
Am J Hum Genet 82:737-43. 2008..97 (empirical p value = 0.00055). This is the first step toward the identification of new susceptibility genes in AGA, a process which will provide important insights into the molecular and cellular basis of scalp hair loss...
