Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
 free
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
 free
 free
 
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve
Pubget Overpricing |  
lüll
TCF4, schizophrenia, and Pitt-Hopkins Syndrome Blake DJ; Forrest M; Chapman RM; Tinsley CL; O'Donovan MC; Owen MJSchizophr Bull 2010[May]; 36 (3): 443-7Genome-wide association studies allied with the identification of rare copy number variants have provided important insights into the genetic risk factors for schizophrenia. Recently, a meta-analysis of several genome-wide association studies found, in addition to several other markers, a single nucleotide polymorphism in intron 4 of the TCF4 gene that was associated with schizophrenia. TCF4 encodes a basic helix-loop-helix transcription factor that interacts with other transcription factors to activate or repress gene expression. TCF4 mutations also cause Pitt-Hopkins Syndrome, an autosomal-dominant neurodevelopmental disorder associated with severe mental retardation. Variants in the TCF4 gene may therefore be associated with a range of neuropsychiatric phenotypes, including schizophrenia. Recessive forms of Pitt-Hopkins syndrome are caused by mutations in NRXN1 and CNTNAP2. Interestingly, NRXN1 deletions have been reported in schizophrenia, whereas CNTNAP2 variants are associated with several neuropsychiatric phenotypes. These data suggest that TCF4, NRXN1, and CNTNAP2 may participate in a biological pathway that is altered in patients with schizophrenia and other neuropsychiatric disorders.|Abnormalities, Multiple/diagnosis/*genetics/physiopathology[MESH]|Alleles[MESH]|Animals[MESH]|Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*genetics[MESH]|Brain/physiopathology[MESH]|Chromosome Aberrations[MESH]|Chromosome Deletion[MESH]|DNA Mutational Analysis[MESH]|Developmental Disabilities/diagnosis/*genetics/physiopathology[MESH]|Genes, Dominant/genetics[MESH]|Genes, Recessive/genetics[MESH]|Genetic Carrier Screening[MESH]|Genetic Markers/genetics[MESH]|Genetic Predisposition to Disease/*genetics[MESH]|Genome-Wide Association Study[MESH]|Humans[MESH]|Intellectual Disability/diagnosis/*genetics/physiopathology[MESH]|Language Development Disorders/diagnosis/*genetics/physiopathology[MESH]|Phenotype[MESH]|Schizophrenia/*genetics/physiopathology[MESH]|Syndrome[MESH]|Transcription Factor 4[MESH]|Transcription Factors/*genetics[MESH] |
