0000000000590692
AUTHOR
J. Körner
showing 6 related works from this author
Identification of two novel polymorphisms and a rare deletion variant in the human dopamine D4 receptor gene
1995
We report two novel polymorphisms and a rare deletion variant in the human dopaine D4 receptor gene. The two polymorphisms are characterized by single base pair substitutions, namely a G-->C transversion changing codon 11 from GGG (encoding Gly) to CGG (encoding Arg) and a C-->T transition in position -11 upstream from the start codon. The Arg11 variant occurs at a frequency of about 1% and the C-->T transition at a frequency of about 7% in German control subjects (n = 148). Allele frequencies observed in patients suffering from schizophrenia (n = 256) and bipolar affective disorder (n = 99) were similar. The deletion variant is characterized by a 21 bp deletion affecting codons 36 to 42 co…
Genetic Deletion of JNK1 and JNK2 Aggravates the DSS-Induced Colitis in Mice
2007
The c-Jun N-terminal kinases (JNKs) are considered as novel targets for therapy of inflammatory bowel diseases (IBD). However, the relevant JNK isoforms have to be elucidated. Here, we analyze the individual contribution of the JNK1 and JNK2 isoforms in a dextran sulfate sodium (DSS) model of experimental colitis. JNK1 and JNK2 knockout mice (JNK1 ko, JNK2 ko) and their wild-type controls (WT1, WT2) received three cycles of DSS treatment, each consisting of 1.7% DSS for 5 days, followed by 5 days with water. Animals were daily evaluated by a disease activity index (DAI) comprising measurement of body weight, estimation of stool consistency, and test for occult blood/gross rectal bleeding. A…
Mutationsanalyse des 5-HT1A-Rezeptor-Gens bei schizophrenen und affektiven Psychosen
1996
Storungen im Serotoninstoffwechsel werden bei einer Vielzahl neuropsychiatrischer Erkrankungen (z. B. Angststorung, Depression, Schizophrenie, Alkoholismus, Migrane, Aggressives Verhalten, Suizidalitat, Tourette-Syndrom) beobachtet. Die Serotonin (5-Hydroxytryptamin, 5-HT) Rezeptoren konnen in mindestens drei Hauptgruppen unterteilt werden und zwar in 5-HTr, 5-HT2- und 5-HT3-Rezeptoren. Beim Menschen konnten bislang funf 5-HTrRezeptorsubtypen kloniert werden: der 5-HT1A, 5-HT1Dα, 5-HT1Dβ, 5-HT1E und der 5-HT1F Rezeptor (Ubersicht bei Shih et al. 1995). Der 5-HT1A ist der pharmakologisch am besten charakterisierte 5-HT1-Subtyp.
Systematic screening for mutations in the promoter and the coding region of the 5-HT1A gene.
1995
In the present study we sought to identify genetic variation in the 5-HT{sub 1A} receptor gene which through alteration of protein function or level of expression might contribute to the genetic predisposition to neuropsychiatric diseases. Genomic DNA samples from 159 unrelated subjects (including 45 schizophrenic, 46 bipolar affective, and 43 patients with Tourette`s syndrome, as well as 25 healthy controls) were investigated by single-strand conformation analysis. Overlapping PCR (polymerase chain reaction) fragments covered the whole coding sequence as well as the 5{prime} untranslated region of the 5-HT{sub 1A} gene. The region upstream to the coding sequence we investigated contains a …
Systematic screening for mutations in the human serotonin 1F receptor gene in patients with bipolar affective disorder and schizophrenia
1996
Using single strand conformational analysis we screened the complete coding sequence of the serotonin 1F (5-HT{sub 1F}) receptor gene for the presence of DNA sequence variation in a sample of 137 unrelated individuals including 45 schizophrenic patients, 46 bipolar patients, as well as 46 healthy controls. We detected only three rare sequence variants which are characterized by single base pair substitutions, namely a silent T{r_arrow}A transversion in the third position of codon 261 (encoding isoleucine), a silent C{r_arrow}T transition in the third position of codon 176 (encoding histidine), and a C{r_arrow}T transition in position -78 upstream from the start codon. The lack of significan…
Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: Identification of two naturally occurring receptor variants and …
1996
A statistically significant association between a silent mutation (102T/C) in the serotonin-2A (5-HT2A) receptor gene and schizophrenia has recently been reported in a sample of Japanese patients and healthy controls. This finding suggests that genetic predisposition to schizophrenia may be affected by a functional 5-HT2A receptor variant that is in linkage disequilibrium with 102T/C. In the present study, we have sought to identify genetic variation in the 5-HT2A receptor gene by screening genomic DNA samples from 91 unrelated subjects comprising 45 patients with schizophrenia and 46 healthy controls by using single-strand conformation analysis. We have identified four nucleotide sequence …