Words similar to pitx

Example sentences for: pitx

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These genes include PITX2, PITX3, PAX6, FOXC1 (previously known as FKHL7 and FREAC3), Foxc2 and FOXE3 [ 4 5 6 7 8 9 ] . Activity levels for these transcription factors normally associated with diploid gene dosage are important for normal ocular development, with heterozygosity for null mutations in most of these genes causing anterior segment dysgenesis.
For FOXC1 and PAX6, both haploinsufficiency and increased gene dosage due to gene duplication result in abnormal ocular development [ 10 11 12 13 ] . Similarly, a mutation in PITX2 that results in increased transcriptional transactivation causes ASD [ 14 ] .
For general anterior segment development, this is supported by the observations that genetic deficiency of transcription factors such as PAX6, PITX2, FOXC1 [ 44, 45], and LMX1B that are expressed in the periocular mesenchyme results in anterior segment dysgenesis in both humans and mice [ 46, 47, 48, 49, 50, 51, 52, 53, 54].