Affiliation: University of Cologne
- 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: email@example.com...
- 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...