Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells
Neurodevelopmental disorders, such as autism spectrum disorders and schizophrenia, are
complex disorders with a high degree of heritability. Genetic studies have identified several
candidate genes associated with these disorders, including contactin-associated protein-like
2 (CNTNAP2). Traditionally, in animal models or in vitro, CNTNAP2 has been studied by
genetic deletion or transcriptional knockdown, which reduces the expression of the entire
gene; however, it remains unclear whether the mutations identified in clinical settings are …
complex disorders with a high degree of heritability. Genetic studies have identified several
candidate genes associated with these disorders, including contactin-associated protein-like
2 (CNTNAP2). Traditionally, in animal models or in vitro, CNTNAP2 has been studied by
genetic deletion or transcriptional knockdown, which reduces the expression of the entire
gene; however, it remains unclear whether the mutations identified in clinical settings are …
[PDF][PDF] Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using...
P Douvaras, AJ Siegel, J Rapoport, DL Levy - 2015 - academia.edu
Neurodevelopmental disorders, such as autism spectrum disorders and schizophrenia, are
complex disorders with a high degree of heritability. Genetic studies have identified several
candidate genes associated with these disorders, including contactin-associated protein-like
2 (CNTNAP2). Traditionally, in animal models or in vitro, CNTNAP2 has been studied by
genetic deletion or transcriptional knockdown, which reduces the expression of the entire
gene; however, it remains unclear whether the mutations identified in clinical settings are …
complex disorders with a high degree of heritability. Genetic studies have identified several
candidate genes associated with these disorders, including contactin-associated protein-like
2 (CNTNAP2). Traditionally, in animal models or in vitro, CNTNAP2 has been studied by
genetic deletion or transcriptional knockdown, which reduces the expression of the entire
gene; however, it remains unclear whether the mutations identified in clinical settings are …
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